Canonical Allele Identifier: CA351300967
Gene: KIF1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240719906C>A , CM000664.2:g.240719906C>A GRCh38
NC_000002.11:g.241659323C>A , CM000664.1:g.241659323C>A GRCh37
NC_000002.10:g.241307996C>A NCBI36
NG_029724.1:g.105302G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001244008.2:c.4889G>T MANE Select NP_001230937.1:p.Arg1630Leu
ENST00000498729.9:c.4889G>T MANE Select ENSP00000438388.1:p.Arg1630Leu
NM_001244008.1:c.4889G>T NP_001230937.1:p.Arg1630Leu
NM_001320705.1:c.4613G>T NP_001307634.1:p.Arg1538Leu
NM_001320705.2:c.4613G>T NP_001307634.1:p.Arg1538Leu
NM_001330289.1:c.4640G>T NP_001317218.1:p.Arg1547Leu
NM_001330289.2:c.4640G>T NP_001317218.1:p.Arg1547Leu
NM_001330290.1:c.4688G>T NP_001317219.1:p.Arg1563Leu
NM_001330290.2:c.4688G>T NP_001317219.1:p.Arg1563Leu
NM_001379631.1:c.4964G>T NP_001366560.1:p.Arg1655Leu
NM_001379632.1:c.4865G>T NP_001366561.1:p.Arg1622Leu
NM_001379633.1:c.4862G>T NP_001366562.1:p.Arg1621Leu
NM_001379634.1:c.4715G>T NP_001366563.1:p.Arg1572Leu
NM_001379635.1:c.4712G>T NP_001366564.1:p.Arg1571Leu
NM_001379636.1:c.4700G>T NP_001366565.1:p.Arg1567Leu
NM_001379637.1:c.4661G>T NP_001366566.1:p.Arg1554Leu
NM_001379638.1:c.4637G>T NP_001366567.1:p.Arg1546Leu
NM_001379639.1:c.4610G>T NP_001366568.1:p.Arg1537Leu
NM_001379640.1:c.4583G>T NP_001366569.1:p.Arg1528Leu
NM_001379641.1:c.4586G>T NP_001366570.1:p.Arg1529Leu
NM_001379642.1:c.4889G>T NP_001366571.1:p.Arg1630Leu
NM_001379645.1:c.4862G>T NP_001366574.1:p.Arg1621Leu
NM_001379646.1:c.4712G>T NP_001366575.1:p.Arg1571Leu
NM_001379648.1:c.4688G>T NP_001366577.1:p.Arg1563Leu
NM_001379649.1:c.4613G>T NP_001366578.1:p.Arg1538Leu
NM_001379650.1:c.4586G>T NP_001366579.1:p.Arg1529Leu
NM_001379651.1:c.4586G>T NP_001366580.1:p.Arg1529Leu
NM_001379653.1:c.4586G>T NP_001366582.1:p.Arg1529Leu
NM_004321.6:c.4586G>T NP_004312.2:p.Arg1529Leu
NM_004321.7:c.4586G>T NP_004312.2:p.Arg1529Leu
NM_004321.8:c.4586G>T NP_004312.2:p.Arg1529Leu
ENST00000320389.11:c.4586G>T ENSP00000322791.7:p.Arg1529Leu
ENST00000320389.12:c.4610G>T ENSP00000322791.8:p.Arg1537Leu
ENST00000404283.9:c.4913G>T ENSP00000384231.5:p.Arg1638Leu
ENST00000431776.6:c.1709G>T ENSP00000414613.2:p.Arg570Leu
ENST00000460788.5:n.1446G>T
ENST00000488776.1:n.380G>T
ENST00000492812.5:n.1361G>T
ENST00000492812.6:n.3472G>T
ENST00000498729.6:c.4889G>T ENSP00000438388.1:p.Arg1630Leu
ENST00000647731.1:c.4613G>T ENSP00000498099.1:p.Arg1538Leu
ENST00000647885.1:c.4700G>T ENSP00000497739.1:p.Arg1567Leu
ENST00000648047.1:c.3848G>T ENSP00000497935.1:p.Arg1283Leu
ENST00000648129.1:c.4862G>T ENSP00000497293.1:p.Arg1621Leu
ENST00000648364.1:c.4613G>T ENSP00000498196.1:p.Arg1538Leu
ENST00000648680.1:c.4640G>T ENSP00000497586.1:p.Arg1547Leu
ENST00000649096.1:c.4586G>T ENSP00000497030.1:p.Arg1529Leu
ENST00000649190.1:n.3883G>T
ENST00000649306.1:c.4688G>T ENSP00000497678.1:p.Arg1563Leu
ENST00000650053.1:c.4586G>T ENSP00000497824.1:p.Arg1529Leu
ENST00000650130.1:c.4862G>T ENSP00000498082.1:p.Arg1621Leu
ENST00000650430.1:n.3961G>T
ENST00000675644.1:c.311G>T ENSP00000502435.1:n.311G>T
ENST00000675932.1:c.166G>T ENSP00000502786.1:p.Gly56Cys
XM_005247022.1:c.4916G>T XP_005247079.1:p.Arg1639Leu
XM_005247023.1:c.4913G>T XP_005247080.1:p.Arg1638Leu
XM_005247024.1:c.4889G>T XP_005247081.1:p.Arg1630Leu
XM_005247026.1:c.4613G>T XP_005247083.1:p.Arg1538Leu
XM_005247027.1:c.4610G>T XP_005247084.1:p.Arg1537Leu
XM_005247028.1:c.4586G>T XP_005247085.1:p.Arg1529Leu
XM_006712605.1:c.4862G>T XP_006712668.1:p.Arg1621Leu
XM_011511364.1:c.4916G>T XP_011509666.1:p.Arg1639Leu
XM_011511365.1:c.4640G>T XP_011509667.1:p.Arg1547Leu
XM_011511366.1:c.3911G>T XP_011509668.1:p.Arg1304Leu
XM_011511367.1:c.3911G>T XP_011509669.1:p.Arg1304Leu