Canonical Allele Identifier: CA2207375
Community Standard Title: NM_001244008.2(KIF1A):c.4613G>A (p.Arg1538His)
Gene: KIF1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240722508C>T , CM000664.2:g.240722508C>T GRCh38
NC_000002.11:g.241661925C>T , CM000664.1:g.241661925C>T GRCh37
NC_000002.10:g.241310598C>T NCBI36
NG_029724.1:g.102700G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001244008.2:c.4613G>A MANE Select NP_001230937.1:p.Arg1538His
ENST00000498729.9:c.4613G>A MANE Select ENSP00000438388.1:p.Arg1538His
NM_001244008.1:c.4613G>A NP_001230937.1:p.Arg1538His
NM_001320705.1:c.4337G>A NP_001307634.1:p.Arg1446His
NM_001320705.2:c.4337G>A NP_001307634.1:p.Arg1446His
NM_001330289.1:c.4364G>A NP_001317218.1:p.Arg1455His
NM_001330289.2:c.4364G>A NP_001317218.1:p.Arg1455His
NM_001330290.1:c.4412G>A NP_001317219.1:p.Arg1471His
NM_001330290.2:c.4412G>A NP_001317219.1:p.Arg1471His
NM_001379631.1:c.4688G>A NP_001366560.1:p.Arg1563His
NM_001379632.1:c.4589G>A NP_001366561.1:p.Arg1530His
NM_001379633.1:c.4586G>A NP_001366562.1:p.Arg1529His
NM_001379634.1:c.4439G>A NP_001366563.1:p.Arg1480His
NM_001379635.1:c.4436G>A NP_001366564.1:p.Arg1479His
NM_001379636.1:c.4424G>A NP_001366565.1:p.Arg1475His
NM_001379637.1:c.4385G>A NP_001366566.1:p.Arg1462His
NM_001379638.1:c.4361G>A NP_001366567.1:p.Arg1454His
NM_001379639.1:c.4334G>A NP_001366568.1:p.Arg1445His
NM_001379640.1:c.4307G>A NP_001366569.1:p.Arg1436His
NM_001379641.1:c.4310G>A NP_001366570.1:p.Arg1437His
NM_001379642.1:c.4613G>A NP_001366571.1:p.Arg1538His
NM_001379645.1:c.4586G>A NP_001366574.1:p.Arg1529His
NM_001379646.1:c.4436G>A NP_001366575.1:p.Arg1479His
NM_001379648.1:c.4412G>A NP_001366577.1:p.Arg1471His
NM_001379649.1:c.4337G>A NP_001366578.1:p.Arg1446His
NM_001379650.1:c.4310G>A NP_001366579.1:p.Arg1437His
NM_001379651.1:c.4310G>A NP_001366580.1:p.Arg1437His
NM_001379653.1:c.4310G>A NP_001366582.1:p.Arg1437His
NM_004321.6:c.4310G>A NP_004312.2:p.Arg1437His
NM_004321.7:c.4310G>A NP_004312.2:p.Arg1437His
NM_004321.8:c.4310G>A NP_004312.2:p.Arg1437His
ENST00000320389.11:c.4310G>A ENSP00000322791.7:p.Arg1437His
ENST00000320389.12:c.4334G>A ENSP00000322791.8:p.Arg1445His
ENST00000404283.9:c.4637G>A ENSP00000384231.5:p.Arg1546His
ENST00000431776.6:c.1433G>A ENSP00000414613.2:p.Arg478His
ENST00000460788.5:n.1170G>A
ENST00000465813.1:n.151G>A
ENST00000465813.2:n.173G>A
ENST00000492812.5:n.1085G>A
ENST00000492812.6:n.3196G>A
ENST00000498729.6:c.4613G>A ENSP00000438388.1:p.Arg1538His
ENST00000647731.1:c.4337G>A ENSP00000498099.1:p.Arg1446His
ENST00000647885.1:c.4424G>A ENSP00000497739.1:p.Arg1475His
ENST00000648047.1:c.3572G>A ENSP00000497935.1:p.Arg1191His
ENST00000648129.1:c.4586G>A ENSP00000497293.1:p.Arg1529His
ENST00000648364.1:c.4337G>A ENSP00000498196.1:p.Arg1446His
ENST00000648680.1:c.4364G>A ENSP00000497586.1:p.Arg1455His
ENST00000649096.1:c.4310G>A ENSP00000497030.1:p.Arg1437His
ENST00000649190.1:n.3607G>A
ENST00000649306.1:c.4412G>A ENSP00000497678.1:p.Arg1471His
ENST00000650053.1:c.4310G>A ENSP00000497824.1:p.Arg1437His
ENST00000650130.1:c.4586G>A ENSP00000498082.1:p.Arg1529His
ENST00000650430.1:n.3685G>A
XM_005247022.1:c.4640G>A XP_005247079.1:p.Arg1547His
XM_005247023.1:c.4637G>A XP_005247080.1:p.Arg1546His
XM_005247024.1:c.4613G>A XP_005247081.1:p.Arg1538His
XM_005247026.1:c.4337G>A XP_005247083.1:p.Arg1446His
XM_005247027.1:c.4334G>A XP_005247084.1:p.Arg1445His
XM_005247028.1:c.4310G>A XP_005247085.1:p.Arg1437His
XM_006712605.1:c.4586G>A XP_006712668.1:p.Arg1529His
XM_011511364.1:c.4640G>A XP_011509666.1:p.Arg1547His
XM_011511365.1:c.4364G>A XP_011509667.1:p.Arg1455His
XM_011511366.1:c.3635G>A XP_011509668.1:p.Arg1212His
XM_011511367.1:c.3635G>A XP_011509669.1:p.Arg1212His