Canonical Allele Identifier: CA351306196
Community Standard Title: NM_001244008.2(KIF1A):c.4278C>G (p.Tyr1426Ter)
Gene: KIF1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240724015G>C , CM000664.2:g.240724015G>C GRCh38
NC_000002.11:g.241663432G>C , CM000664.1:g.241663432G>C GRCh37
NC_000002.10:g.241312105G>C NCBI36
NG_029724.1:g.101193C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001244008.2:c.4278C>G MANE Select NP_001230937.1:p.Tyr1426Ter
ENST00000498729.9:c.4278C>G MANE Select ENSP00000438388.1:p.Tyr1426Ter
NM_001244008.1:c.4278C>G NP_001230937.1:p.Tyr1426Ter
NM_001320705.1:c.4002C>G NP_001307634.1:p.Tyr1334Ter
NM_001320705.2:c.4002C>G NP_001307634.1:p.Tyr1334Ter
NM_001330289.1:c.4029C>G NP_001317218.1:p.Tyr1343Ter
NM_001330289.2:c.4029C>G NP_001317218.1:p.Tyr1343Ter
NM_001330290.1:c.4077C>G NP_001317219.1:p.Tyr1359Ter
NM_001330290.2:c.4077C>G NP_001317219.1:p.Tyr1359Ter
NM_001379631.1:c.4353C>G NP_001366560.1:p.Tyr1451Ter
NM_001379632.1:c.4254C>G NP_001366561.1:p.Tyr1418Ter
NM_001379633.1:c.4251C>G NP_001366562.1:p.Tyr1417Ter
NM_001379634.1:c.4104C>G NP_001366563.1:p.Tyr1368Ter
NM_001379635.1:c.4101C>G NP_001366564.1:p.Tyr1367Ter
NM_001379636.1:c.4089C>G NP_001366565.1:p.Tyr1363Ter
NM_001379637.1:c.4050C>G NP_001366566.1:p.Tyr1350Ter
NM_001379638.1:c.4026C>G NP_001366567.1:p.Tyr1342Ter
NM_001379639.1:c.3999C>G NP_001366568.1:p.Tyr1333Ter
NM_001379640.1:c.3972C>G NP_001366569.1:p.Tyr1324Ter
NM_001379641.1:c.3975C>G NP_001366570.1:p.Tyr1325Ter
NM_001379642.1:c.4278C>G NP_001366571.1:p.Tyr1426Ter
NM_001379645.1:c.4251C>G NP_001366574.1:p.Tyr1417Ter
NM_001379646.1:c.4101C>G NP_001366575.1:p.Tyr1367Ter
NM_001379648.1:c.4077C>G NP_001366577.1:p.Tyr1359Ter
NM_001379649.1:c.4002C>G NP_001366578.1:p.Tyr1334Ter
NM_001379650.1:c.3975C>G NP_001366579.1:p.Tyr1325Ter
NM_001379651.1:c.3975C>G NP_001366580.1:p.Tyr1325Ter
NM_001379653.1:c.3975C>G NP_001366582.1:p.Tyr1325Ter
NM_004321.6:c.3975C>G NP_004312.2:p.Tyr1325Ter
NM_004321.7:c.3975C>G NP_004312.2:p.Tyr1325Ter
NM_004321.8:c.3975C>G NP_004312.2:p.Tyr1325Ter
ENST00000320389.11:c.3975C>G ENSP00000322791.7:p.Tyr1325Ter
ENST00000320389.12:c.3999C>G ENSP00000322791.8:p.Tyr1333Ter
ENST00000404283.7:c.4302C>G ENSP00000384231.3:p.Tyr1434Ter
ENST00000404283.9:c.4302C>G ENSP00000384231.5:p.Tyr1434Ter
ENST00000431776.5:c.773C>G
ENST00000431776.6:c.1098C>G ENSP00000414613.2:p.Tyr366Ter
ENST00000460788.5:n.835C>G
ENST00000492812.5:n.750C>G
ENST00000492812.6:n.2861C>G
ENST00000498729.6:c.4278C>G ENSP00000438388.1:p.Tyr1426Ter
ENST00000647731.1:c.4002C>G ENSP00000498099.1:p.Tyr1334Ter
ENST00000647885.1:c.4089C>G ENSP00000497739.1:p.Tyr1363Ter
ENST00000648047.1:c.3237C>G ENSP00000497935.1:p.Tyr1079Ter
ENST00000648129.1:c.4251C>G ENSP00000497293.1:p.Tyr1417Ter
ENST00000648364.1:c.4002C>G ENSP00000498196.1:p.Tyr1334Ter
ENST00000648680.1:c.4029C>G ENSP00000497586.1:p.Tyr1343Ter
ENST00000649096.1:c.3975C>G ENSP00000497030.1:p.Tyr1325Ter
ENST00000649190.1:n.3272C>G
ENST00000649306.1:c.4077C>G ENSP00000497678.1:p.Tyr1359Ter
ENST00000650053.1:c.3975C>G ENSP00000497824.1:p.Tyr1325Ter
ENST00000650130.1:c.4251C>G ENSP00000498082.1:p.Tyr1417Ter
ENST00000650430.1:n.3350C>G
ENST00000676368.1:n.22C>G
XM_005247022.1:c.4305C>G XP_005247079.1:p.Tyr1435Ter
XM_005247023.1:c.4302C>G XP_005247080.1:p.Tyr1434Ter
XM_005247024.1:c.4278C>G XP_005247081.1:p.Tyr1426Ter
XM_005247026.1:c.4002C>G XP_005247083.1:p.Tyr1334Ter
XM_005247027.1:c.3999C>G XP_005247084.1:p.Tyr1333Ter
XM_005247028.1:c.3975C>G XP_005247085.1:p.Tyr1325Ter
XM_006712605.1:c.4251C>G XP_006712668.1:p.Tyr1417Ter
XM_011511364.1:c.4305C>G XP_011509666.1:p.Tyr1435Ter
XM_011511365.1:c.4029C>G XP_011509667.1:p.Tyr1343Ter
XM_011511366.1:c.3300C>G XP_011509668.1:p.Tyr1100Ter
XM_011511367.1:c.3300C>G XP_011509669.1:p.Tyr1100Ter