All transcript variants in gene CPT1C

Information The variants shown are described using the NM_152359.2 transcript reference sequence.

52 entries on 1 page. Showing entries 1 - 52.
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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.-14-41G>A r.(=) p.(=) g.50195455G>A - CPT1C_000001 rs115751101 0.064 33 516 3304 - - Admin
./. - c.141+91C>T r.(=) p.(=) g.50195741C>T - CPT1C_000003 rs77633761 0.027 14 516 7417 - - Admin
./. - c.141+120T>C r.(=) p.(=) g.50195770T>C - CPT1C_000005 rs10423579 0.531 274 516 6227 - - Admin
./. - c.141+121T>G r.(=) p.(=) g.50195771T>G - CPT1C_000007 rs10423580 0.531 274 516 6113 - - Admin
./. - c.142-8C>T r.(=) p.(=) g.50200575C>T - CPT1C_000002 rs761461297 0.001938 1 516 3838 - - Admin
./. - c.282-5C>T r.spl? p.? g.50203936C>T - CPT1C_000004 rs527241947 0.001938 1 516 4655 - - Admin
./. - c.288A>C r.(=) p.(=) g.50203947A>C - CPT1C_000006 rs140411644 0.001938 1 516 5680 - - Admin
./. - c.305G>A r.(?) p.(Arg102Gln) g.50203964G>A - CPT1C_000008 rs781746898 0.001938 1 516 7015 - - Admin
./. - c.453+14A>G r.(=) p.(=) g.50204126A>G - CPT1C_000010 rs73588425 0.023 12 516 8849 - - Admin
./. - c.453+53_453+54insCCCCTCTCTCTGGGTCTCTGTCCCCCTCTCTCTCTGGGTCTCTGTC r.(=) p.(=) g.50204165_50204166insCCCCTCTCTCTGGGTCTCTGTCCCCCTCTCTCTCTGGGTCTCTGTC - CPT1C_000012 rs1243264383 - - - - - - Admin
./. - c.453+78_453+79insCT r.(=) p.(=) g.50204190_50204191insCT - CPT1C_000013 rs546010559 - - - - - - Admin
./. - c.453+100T>C r.(=) p.(=) g.50204212T>C - CPT1C_000015 rs113828873 0.005837 3 514 3471 - - Admin
./. - c.645G>A r.(=) p.(=) g.50204843G>A - CPT1C_000017 rs12973248 0.149 77 516 9331 - - Admin
./. - c.693+137C>A r.(=) p.(=) g.50205028C>A - CPT1C_000019 rs12973329 0.113 53 470 1009 - - Admin
./. - c.721T>C r.(?) p.(Tyr241His) g.50207994T>C - CPT1C_000021 rs144205321 0.001938 1 516 8262 - - Admin
./. - c.771+109G>A r.(=) p.(=) g.50208153G>A - CPT1C_000023 rs934653361 0.001938 1 516 6859 1 0 Admin
./. - c.772-104del r.(=) p.(=) g.50208160del - CPT1C_000025 rs143218916 0.001938 1 516 6859 - - Admin
./. - c.772-84G>T r.(=) p.(=) g.50208180G>T - CPT1C_000027 rs12984650 0.153 79 516 5900 - - Admin
./. - c.772-74G>C r.(=) p.(=) g.50208190G>C - CPT1C_000029 rs150387105 0.003876 2 516 5635 - - Admin
./. - c.772-19C>T r.(=) p.(=) g.50208245C>T - CPT1C_000031 rs752460475 0.001938 1 516 4774 - - Admin
./. - c.880-35C>T r.(=) p.(=) g.50208436C>T - CPT1C_000033 - 0.001938 1 516 9229 1 0 Admin
./. - c.964+72C>T r.(=) p.(=) g.50208627C>T - CPT1C_000035 rs45617640 0.056 29 516 5347 - - Admin
./. - c.964+155A>G r.(=) p.(=) g.50208710A>G - CPT1C_000037 rs45480295 0.049 24 494 1884 - - Admin
./. - c.965-169C>G r.(=) p.(=) g.50208997C>G - CPT1C_000039 rs1011983942 0.003891 2 514 1998 2 0 Admin
./. - c.965-71T>G r.(=) p.(=) g.50209095T>G - CPT1C_000041 rs7249356 0.266 137 516 6957 - - Admin
./. - c.1125C>T r.(=) p.(=) g.50209326C>T - CPT1C_000043 rs141956324 0.001938 1 516 8610 - - Admin
./. - c.1167G>A r.(=) p.(=) g.50209494G>A - CPT1C_000045 rs145807606 0.001938 1 516 9519 - - Admin
./. - c.1326C>T r.(=) p.(=) g.50209653C>T - CPT1C_000047 rs12978911 0.153 79 516 5789 - - Admin
./. - c.1343+21G>T r.(=) p.(=) g.50209691G>T - CPT1C_000049 rs562832000 0.001938 1 516 3250 - - Admin
./. - c.1344-163G>A r.(=) p.(=) g.50210612G>A - CPT1C_000009 rs113185396 0.009921 5 504 1692 - - Admin
./. - c.1366C>G r.(?) p.(Leu456Val) g.50210797C>G - CPT1C_000011 - 0.001938 1 516 9059 1 0 Admin
./. - c.1450-62C>T r.(=) p.(=) g.50211918C>T - CPT1C_000014 rs190404093 0.001938 1 516 3437 - - Admin
./. - c.1450-61G>A r.(=) p.(=) g.50211919G>A - CPT1C_000016 rs75581691 0.019 10 516 3487 - - Admin
./. - c.1494C>T r.(=) p.(=) g.50212024C>T - CPT1C_000018 rs61747405 0.017 9 516 7891 - - Admin
./. - c.1524A>G r.(=) p.(=) g.50212054A>G - CPT1C_000020 rs181225621 0.005814 3 516 7611 - - Admin
./. - c.1566+156C>T r.(=) p.(=) g.50212252C>T - CPT1C_000022 rs78340461 0.02 10 498 1107 - - Admin
./. - c.1566+192C>T r.(=) p.(=) g.50212288C>T - CPT1C_000024 rs75715304 0.015 7 464 782 - - Admin
./. - c.1567-44C>T r.(=) p.(=) g.50213533C>T - CPT1C_000026 rs149554934 0.003876 2 516 2795 - - Admin
./. - c.1732-50G>A r.(=) p.(=) g.50213930G>A - CPT1C_000028 rs371961908 0.001938 1 516 9271 - - Admin
./. - c.1866+36C>A r.(=) p.(=) g.50214150C>A - CPT1C_000030 rs148792995 0.001938 1 516 2691 - - Admin
./. - c.1866+64G>A r.(=) p.(=) g.50214178G>A - CPT1C_000032 rs10404778 0.02 10 512 1880 - - Admin
./. - c.1867-54_1867-53insAGCGGCTGGATCAGGCAGGCCTGGGACGGGTCGTGGTGGTCCGGCGACAGGGTGTTCA r.(=) p.(=) g.50215012_50215013insAGCGGCTGGATCAGGCAGGCCTGGGACGGGTCGTGGTGGTCCGGCGACAGGGTGTTCA - CPT1C_000034 - - - - - - - Admin
./. - c.2019+46G>A r.(=) p.(=) g.50215264G>A - CPT1C_000036 - 0.003876 2 516 7907 2 0 Admin
./. - c.2019+49G>A r.(=) p.(=) g.50215267G>A - CPT1C_000038 rs116346946 0.019 10 516 7782 - - Admin
./. - c.2019+120G>A r.(=) p.(=) g.50215338G>A - CPT1C_000040 rs112638321 0.043 22 514 2957 - - Admin
./. - c.2020-73A>C r.(=) p.(=) g.50215920A>C - CPT1C_000042 rs568399797 0.001946 1 514 3639 - - Admin
./. - c.2077C>A r.(?) p.(Leu693Met) g.50216050C>A - CPT1C_000044 rs79488403 0.001938 1 516 8875 - - Admin
./. - c.2133+12_2133+13insG r.(=) p.(=) g.50216118_50216119insG - CPT1C_000046 rs398079927 - - - - - - Admin
./. - c.2227-10_2227-8del r.(=) p.(=) g.50216667_50216669del - CPT1C_000048 rs752790619 - - - - - - Admin
./. - c.2289G>C r.(?) p.(Gln763His) g.50216739G>C - CPT1C_000050 rs368751632 0.001938 1 516 5908 1 0 Admin
./. - c.2334G>C r.(?) p.(Glu778Asp) g.50216784G>C - CPT1C_000051 rs775816343 0.001938 1 516 7075 - - Admin
./. - c.*29A>G r.(=) p.(=) g.50216891A>G - CPT1C_000052 rs73588437 0.019 10 516 6330 - - Admin
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