Canonical Allele Identifier: CA2207430
Community Standard Title: NM_001244008.2(KIF1A):c.4307C>T (p.Ala1436Val)
Gene: KIF1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240723986G>A , CM000664.2:g.240723986G>A GRCh38
NC_000002.11:g.241663403G>A , CM000664.1:g.241663403G>A GRCh37
NC_000002.10:g.241312076G>A NCBI36
NG_029724.1:g.101222C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001244008.2:c.4307C>T MANE Select NP_001230937.1:p.Ala1436Val
ENST00000498729.9:c.4307C>T MANE Select ENSP00000438388.1:p.Ala1436Val
NM_001244008.1:c.4307C>T NP_001230937.1:p.Ala1436Val
NM_001320705.1:c.4031C>T NP_001307634.1:p.Ala1344Val
NM_001320705.2:c.4031C>T NP_001307634.1:p.Ala1344Val
NM_001330289.1:c.4058C>T NP_001317218.1:p.Ala1353Val
NM_001330289.2:c.4058C>T NP_001317218.1:p.Ala1353Val
NM_001330290.1:c.4106C>T NP_001317219.1:p.Ala1369Val
NM_001330290.2:c.4106C>T NP_001317219.1:p.Ala1369Val
NM_001379631.1:c.4382C>T NP_001366560.1:p.Ala1461Val
NM_001379632.1:c.4283C>T NP_001366561.1:p.Ala1428Val
NM_001379633.1:c.4280C>T NP_001366562.1:p.Ala1427Val
NM_001379634.1:c.4133C>T NP_001366563.1:p.Ala1378Val
NM_001379635.1:c.4130C>T NP_001366564.1:p.Ala1377Val
NM_001379636.1:c.4118C>T NP_001366565.1:p.Ala1373Val
NM_001379637.1:c.4079C>T NP_001366566.1:p.Ala1360Val
NM_001379638.1:c.4055C>T NP_001366567.1:p.Ala1352Val
NM_001379639.1:c.4028C>T NP_001366568.1:p.Ala1343Val
NM_001379640.1:c.4001C>T NP_001366569.1:p.Ala1334Val
NM_001379641.1:c.4004C>T NP_001366570.1:p.Ala1335Val
NM_001379642.1:c.4307C>T NP_001366571.1:p.Ala1436Val
NM_001379645.1:c.4280C>T NP_001366574.1:p.Ala1427Val
NM_001379646.1:c.4130C>T NP_001366575.1:p.Ala1377Val
NM_001379648.1:c.4106C>T NP_001366577.1:p.Ala1369Val
NM_001379649.1:c.4031C>T NP_001366578.1:p.Ala1344Val
NM_001379650.1:c.4004C>T NP_001366579.1:p.Ala1335Val
NM_001379651.1:c.4004C>T NP_001366580.1:p.Ala1335Val
NM_001379653.1:c.4004C>T NP_001366582.1:p.Ala1335Val
NM_004321.6:c.4004C>T NP_004312.2:p.Ala1335Val
NM_004321.7:c.4004C>T NP_004312.2:p.Ala1335Val
NM_004321.8:c.4004C>T NP_004312.2:p.Ala1335Val
ENST00000320389.11:c.4004C>T ENSP00000322791.7:p.Ala1335Val
ENST00000320389.12:c.4028C>T ENSP00000322791.8:p.Ala1343Val
ENST00000404283.7:c.4331C>T ENSP00000384231.3:p.Ala1444Val
ENST00000404283.9:c.4331C>T ENSP00000384231.5:p.Ala1444Val
ENST00000431776.5:c.802C>T
ENST00000431776.6:c.1127C>T ENSP00000414613.2:p.Ala376Val
ENST00000460788.5:n.864C>T
ENST00000492812.5:n.779C>T
ENST00000492812.6:n.2890C>T
ENST00000498729.6:c.4307C>T ENSP00000438388.1:p.Ala1436Val
ENST00000647731.1:c.4031C>T ENSP00000498099.1:p.Ala1344Val
ENST00000647885.1:c.4118C>T ENSP00000497739.1:p.Ala1373Val
ENST00000648047.1:c.3266C>T ENSP00000497935.1:p.Ala1089Val
ENST00000648129.1:c.4280C>T ENSP00000497293.1:p.Ala1427Val
ENST00000648364.1:c.4031C>T ENSP00000498196.1:p.Ala1344Val
ENST00000648680.1:c.4058C>T ENSP00000497586.1:p.Ala1353Val
ENST00000649096.1:c.4004C>T ENSP00000497030.1:p.Ala1335Val
ENST00000649190.1:n.3301C>T
ENST00000649306.1:c.4106C>T ENSP00000497678.1:p.Ala1369Val
ENST00000650053.1:c.4004C>T ENSP00000497824.1:p.Ala1335Val
ENST00000650130.1:c.4280C>T ENSP00000498082.1:p.Ala1427Val
ENST00000650430.1:n.3379C>T
ENST00000676368.1:n.51C>T
XM_005247022.1:c.4334C>T XP_005247079.1:p.Ala1445Val
XM_005247023.1:c.4331C>T XP_005247080.1:p.Ala1444Val
XM_005247024.1:c.4307C>T XP_005247081.1:p.Ala1436Val
XM_005247026.1:c.4031C>T XP_005247083.1:p.Ala1344Val
XM_005247027.1:c.4028C>T XP_005247084.1:p.Ala1343Val
XM_005247028.1:c.4004C>T XP_005247085.1:p.Ala1335Val
XM_006712605.1:c.4280C>T XP_006712668.1:p.Ala1427Val
XM_011511364.1:c.4334C>T XP_011509666.1:p.Ala1445Val
XM_011511365.1:c.4058C>T XP_011509667.1:p.Ala1353Val
XM_011511366.1:c.3329C>T XP_011509668.1:p.Ala1110Val
XM_011511367.1:c.3329C>T XP_011509669.1:p.Ala1110Val