All transcript variants in gene ATXN1

Information The variants shown are described using the NM_000332.3 transcript reference sequence.

60 entries on 1 page. Showing entries 1 - 60.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Allele Count     

Allele Number     

Combined Depth     

Heterozygote     

Homozygous     

Owner     
./. - c.-969_-968insGAGGAG r.(=) p.(=) g.16761718_16761719insCTCCTC - ATXN1_000060 rs371878187 - - - - - - Admin
./. - c.-968_-966del r.(=) p.(=) g.16761716_16761718del - ATXN1_000058 rs371878187 0.001938 1 516 4572 1 0 Admin
./. - c.-968_-966dup r.(=) p.(=) g.16761716_16761718dup - ATXN1_000059 rs371878187 - - - - - - Admin
./. - c.-867G>A r.(=) p.(=) g.16761617C>T - ATXN1_000057 rs184290566 0.001938 1 516 9168 - - Admin
./. - c.-729-148_-729-147del r.(=) p.(=) g.16753725_16753726del - ATXN1_000056 rs1257313859 0.001938 1 516 4572 1 0 Admin
./. - c.-729-95G>A r.(=) p.(=) g.16753673C>T - ATXN1_000055 rs114602929 0.001938 1 516 2387 - - Admin
./. - c.-615+46C>T r.(=) p.(=) g.16753418G>A - ATXN1_000054 rs950129242 0.001938 1 516 4572 1 0 Admin
./. - c.-615+85_-615+86insCC r.(=) p.(=) g.16753378_16753379insGG - ATXN1_000053 rs761477224 - - - - - - Admin
./. - c.-615+87_-615+90del r.(=) p.(=) g.16753374_16753377del - ATXN1_000052 rs768741417 0.076 39 516 2794 - - Admin
./. - c.-615+112T>G r.(=) p.(=) g.16753352A>C - ATXN1_000051 rs10456791 0.076 39 516 2794 - - Admin
./. - c.-615+13500G>A r.(=) p.(=) g.16739964C>T - ATXN1_000050 rs1047968157 0.001938 1 516 6434 1 0 Admin
./. - c.51C>T r.(=) p.(=) g.16328491G>A - ATXN1_000047 rs138101962 0.001938 1 516 9845 - - Admin
./. - c.158G>A r.(?) p.(Arg53Gln) g.16328384C>T - ATXN1_000046 rs754100060 0.001938 1 516 10199 - - Admin
./. - c.474A>G r.(=) p.(=) g.16328068T>C - ATXN1_000045 rs2072736 0.076 39 516 12581 - - Admin
./. - c.556A>T r.(?) p.(Ser186Cys) g.16327986T>A - ATXN1_000044 rs112175378 0.001938 1 516 10358 - - Admin
./. - c.609G>T r.(?) p.(Gln203His) g.16327933C>A - ATXN1_000043 rs199744696 0.001938 1 516 10727 - - Admin
./. - c.621_629del r.(?) p.(Gln208_Gln210del) g.16327913_16327921del - ATXN1_000031 rs59310777 - - - - - - Admin
./. - c.621_629dup r.(?) p.(Gln208_Gln210dup) g.16327913_16327921dup - ATXN1_000032 rs59310777 - - - - - - Admin
./. - c.623_624insGCAGCA r.(?) p.(Gln207_Gln208dup) g.16327918_16327919insTGCTGC - ATXN1_000040 rs11969612 - - - - - - Admin
./. - c.623_624insGCAGCAGCA r.(?) p.(Gln206_Gln208dup) g.16327918_16327919insTGCTGCTGC - ATXN1_000041 rs11969612 - - - - - - Admin
./. - c.623_624insGCAGCAGCAGCAGCA r.(?) p.(Gln204_Gln208dup) g.16327918_16327919insTGCTGCTGCTGCTGC - ATXN1_000039 rs11969612 - - - - - - Admin
./. - c.623_624insTCA r.(?) p.(Gln207_Gln208insHis) g.16327918_16327919insTGA - ATXN1_000042 rs750728642 - - - - - - Admin
./. - c.624_626del r.(?) p.(Gln208del) g.16327916_16327918del - ATXN1_000038 rs11969612 - - - - - - Admin
./. - c.624_626dup r.(?) p.(Gln208dup) g.16327916_16327918dup - ATXN1_000035 rs11969612 - - - - - - Admin
./. - c.627T>G r.(?) p.(His209Gln) g.16327915A>C - ATXN1_000034 rs11969612 - - - - - - Admin
./. - c.627_628insCAG r.(?) p.(Gln210dup) g.16327914_16327915insCTG - ATXN1_000033 rs59310777 - - - - - - Admin
./. - c.627_629del r.(?) p.(His209del) g.16327913_16327915del - ATXN1_000030 rs751377396 - - - - - - Admin
./. - c.627_650del r.(?) p.(His209_Gln216del) g.16327892_16327915del - ATXN1_000019 rs760281203 - - - - - - Admin
./. - c.633T>G r.(?) p.(His211Gln) g.16327909A>C - ATXN1_000029 rs59310777 - - - - - - Admin
./. - c.633_634insCAGCATCAG r.(?) p.(Gln212_Gln213insHisGlnGln) g.16327908_16327909insCTGATGCTG - ATXN1_000028 rs3817753 - - - - - - Admin
./. - c.633_635del r.(?) p.(His211del) g.16327907_16327909del - ATXN1_000027 rs770305044 - - - - - - Admin
./. - c.633_638del r.(?) p.(His211_Gln212del) g.16327904_16327909del - ATXN1_000025 rs3817753 - - - - - - Admin
./. - c.636_637insCAT r.(?) p.(Gln212_Gln213insHis) g.16327905_16327906insATG - ATXN1_000026 rs3817753 - - - - - - Admin
./. - c.639G>T r.(?) p.(Gln213His) g.16327903C>A - ATXN1_000024 rs3817753 - - - - - - Admin
./. - c.642G>T r.(?) p.(Gln214His) g.16327900C>A - ATXN1_000023 rs200111316 - - - - - - Admin
./. - c.645G>T r.(?) p.(Gln215His) g.16327897C>A - ATXN1_000022 rs184327938 0.014 7 516 11311 - - Admin
./. - c.645_646insCAT r.(?) p.(Gln215_Gln216insHis) g.16327896_16327897insATG - ATXN1_000020 rs764946723 - - - - - - Admin
./. - c.645_646insCATCAGCAT r.(?) p.(Gln215_Gln216insHisGlnHis) g.16327896_16327897insATGCTGATG - ATXN1_000021 rs764946723 - - - - - - Admin
./. - c.671_672insGCAGCAGCA r.(?) p.(Gln223_Gln225dup) g.16327870_16327871insTGCTGCTGC - ATXN1_000018 rs754954093 - - - - - - Admin
./. - c.672_674del r.(?) p.(Gln225del) g.16327868_16327870del - ATXN1_000037 rs754954093 - - - - - - Admin
./. - c.672_674dup r.(?) p.(Gln225dup) g.16327868_16327870dup - ATXN1_000036 rs754954093 - - - - - - Admin
./. - c.672_677del r.(?) p.(Gln224_Gln225del) g.16327865_16327870del - ATXN1_000017 rs754954093 - - - - - - Admin
./. - c.672_677dup r.(?) p.(Gln224_Gln225dup) g.16327865_16327870dup - ATXN1_000048 rs754954093 - - - - - - Admin
./. - c.675_676insCAGCAGCAC r.(?) p.(Gln225_His226insGlnGlnHis) g.16327866_16327867insGTGCTGCTG - ATXN1_000049 rs754954093 - - - - - - Admin
./. - c.726C>G r.(=) p.(=) g.16327816G>C - ATXN1_000016 rs144583284 0.001938 1 516 13473 - - Admin
./. - c.772G>T r.(?) p.(Gly258Cys) g.16327770C>A - ATXN1_000015 rs144962740 0.001938 1 516 13774 - - Admin
./. - c.888C>T r.(=) p.(=) g.16327654G>A - ATXN1_000014 rs140153287 0.005814 3 516 13822 - - Admin
./. - c.927T>C r.(=) p.(=) g.16327615A>G - ATXN1_000012 rs179990 0.711 367 516 21019 - - Admin
./. - c.927T>G r.(=) p.(=) g.16327615A>C - ATXN1_000013 rs179990 0.001938 1 516 21019 - - Admin
./. - c.1207C>T r.(?) p.(Arg403Cys) g.16327335G>A - ATXN1_000011 rs116599639 0.003876 2 516 11843 - - Admin
./. - c.1212A>G r.(=) p.(=) g.16327330T>C - ATXN1_000010 rs2075974 0.304 157 516 13580 - - Admin
./. - c.1399G>A r.(?) p.(Gly467Ser) g.16327143C>T - ATXN1_000009 rs34265178 0.001938 1 516 9954 - - Admin
./. - c.1830C>T r.(=) p.(=) g.16326712G>A - ATXN1_000008 rs35525606 0.003876 2 516 9645 - - Admin
./. - c.1871C>T r.(?) p.(Pro624Leu) g.16326671G>A - ATXN1_000007 rs539283031 0.001938 1 516 9505 - - Admin
./. - c.1917+14G>T r.(=) p.(=) g.16326611C>A - ATXN1_000006 rs72840240 0.025 13 516 7569 - - Admin
./. - c.1917+38C>T r.(=) p.(=) g.16326587G>A - ATXN1_000005 rs78115249 0.136 70 516 6306 - - Admin
./. - c.2031A>G r.(=) p.(=) g.16306977T>C - ATXN1_000004 rs34324423 0.023 12 516 9592 - - Admin
./. - c.2142C>T r.(=) p.(=) g.16306866G>A - ATXN1_000003 rs2072737 0.056 29 516 10275 - - Admin
./. - c.2257C>T r.(?) p.(Pro753Ser) g.16306751G>A - ATXN1_000002 rs16885 0.202 104 516 10968 - - Admin
./. - c.*148G>A r.(=) p.(=) g.16306412C>T - ATXN1_000001 rs904723406 0.002016 1 496 1050 1 0 Admin
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