All transcript variants in gene ACVR1

Information The variants shown are described using the NM_001105.4 transcript reference sequence.

36 entries on 1 page. Showing entries 1 - 36.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg38)     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Heterozygote     

Homozygous     

Owner     
./. - c.-183+6825C>A - - g.157868039G>T - ACVR1_000024 rs16842215 0.9176 46 288 Admin
./. - c.-183+7023T>C - - g.157867841A>G - ACVR1_000023 rs2354936 0.0353 20 2 Admin
./. - c.-183+10149G>C - - g.157864715C>G - ACVR1_000027 rs16842204 0.0412 24 2 Admin
./. - c.-183+14080G>A - - g.157860784C>T - ACVR1_000026 rs16842190 0.0779 53 0 Admin
./. - c.-183+14643G>A r.(=) p.(=) g.157860221C>T - ACVR1_000025 rs1036738 0.8559 52 264 Admin
./. - c.-183+15912T>C r.(=) p.(=) g.157858952A>G - ACVR1_000031 rs16842179 0.9309 39 296 Admin
./. - c.-183+15935T>C - - g.157858929A>G - ACVR1_000030 rs4664902 0.0294 20 0 Admin
./. - c.-182-21457T>G - - g.157840016A>C - ACVR1_000029 rs2883605 0.9162 49 286 Admin
./. - c.-182-18010T>C - - g.157836569A>G - ACVR1_000028 rs10168000 0.7250 131 180 Admin
./. - c.-182-12015T>C r.(=) p.(=) g.157830574A>G - ACVR1_000032 rs16842130 0.9544 19 314 Admin
./. - c.-182-11918T>G - - g.157830477A>C - ACVR1_000033 rs16842128 0.9824 12 327 Admin
./. - c.-182-6569T>A r.(=) p.(=) g.157825128A>T - ACVR1_000035 rs16842126 0.0500 32 1 Admin
./. - c.-8+7681T>C - - g.157810704A>G - ACVR1_000034 rs10497191 0.7662 99 210 Admin
./. - c.-7-5776G>A - - g.157805276C>T - ACVR1_000036 rs7561419 0.0529 22 7 Admin
./. - c.67+1649C>A r.(=) p.(=) g.157797778G>T - ACVR1_000022 rs7565550 0.2441 118 24 Admin
./. - c.67+5408T>G - - g.157794019A>C - ACVR1_000021 rs16842101 0.9309 37 297 Admin
./. - c.67+7144G>C - - g.157792283C>G - ACVR1_000020 rs13426299 0.0412 22 3 Admin
./. - c.67+8591G>A - - g.157790836C>T - ACVR1_000019 rs16842091 0.0235 16 0 Admin
./. - c.67+9202G>A - - g.157790225C>T - ACVR1_000018 rs6719924 0.7735 100 212 Admin
./. - c.68-8425G>A - - g.157789025C>T - ACVR1_000017 rs6756964 0.9838 5 331 Admin
./. - c.68-2127T>C - - g.157782727A>G - ACVR1_000016 rs10497190 0.7912 88 224 Admin
./. - c.543+839T>C r.(=) p.(=) g.157777292A>G - ACVR1_000015 rs1146036 0.2397 97 33 Admin
./. - c.643+1536T>C r.(=) p.(=) g.157772552A>G - ACVR1_000014 rs1146033 0.0853 48 5 Admin
./. - c.691T>C - - g.157770467A>G - ACVR1_000013 rs1146031 0.1118 52 12 Admin
./. - c.790+1938G>A - - g.157768430C>T - ACVR1_000012 rs6741119 0.9632 9 322 Admin
./. - c.790+2077T>C - - g.157768291A>G - ACVR1_000011 rs10497189 0.0897 45 8 Admin
./. - c.791-1952T>A - - g.157768148A>T - ACVR1_000010 rs16842025 0.0147 10 0 Admin
./. - c.791-1692G>A - - g.157767888C>T - ACVR1_000009 rs16842023 0.0544 33 2 Admin
./. - c.791-1595G>A r.(=) p.(=) g.157767791C>T - ACVR1_000008 rs16842021 0.9853 6 331 Admin
./. - c.1066+539T>A - - g.157765382A>T - ACVR1_000007 rs7576214 0.7662 88 216 Admin
./. - c.1066+665T>C - - g.157765256A>G - ACVR1_000006 rs16842019 0.9750 13 324 Admin
./. - c.1066+1078T>G - - g.157764843A>C - ACVR1_000005 rs16842018 0.8441 59 257 Admin
./. - c.1265-11061G>A - - g.157749631C>T - ACVR1_000004 rs7595478 0.3529 133 53 Admin
./. - c.1265-10440T>C - - g.157749010A>G - ACVR1_000003 rs1220135 0.0353 14 5 Admin
./. - c.1396-137T>C - - g.157737802A>G - ACVR1_000002 rs3738926 0.9603 13 319 Admin
./. - c.1396-92G>A - - g.157737757C>T - ACVR1_000001 rs16842009 0.0485 13 10 Admin
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