Canonical Allele Identifier: CA16043890

Gene: KIF1A

Linked Data

• ClinVar Variation Id: 374775
• ClinVar RCV Id: RCV003766169
• dbSNP Id: rs1057519240
• gnomAD v4: 2-240723538-G-A
• MyVariant Identifiers: chr2:g.241662955G>A (hg19) ; chr2:g.240723538G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240723538G>A , CM000664.2:g.240723538G>A	GRCh38
NC_000002.11:g.241662955G>A , CM000664.1:g.241662955G>A	GRCh37
NC_000002.10:g.241311628G>A	NCBI36
NG_029724.1:g.101670C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000320389.12:c.4060C>T	ENSP00000322791.8:p.Arg1354Ter
ENST00000404283.9:c.4363C>T	ENSP00000384231.5:p.Arg1455Ter
ENST00000431776.6:c.1159C>T	ENSP00000414613.2:p.Arg387Ter
ENST00000492812.6:n.2922C>T
ENST00000498729.9:c.4339C>T MANE Select	ENSP00000438388.1:p.Arg1447Ter
ENST00000647731.1:c.4063C>T	ENSP00000498099.1:p.Arg1355Ter
ENST00000647885.1:c.4150C>T	ENSP00000497739.1:p.Arg1384Ter
ENST00000648047.1:c.3298C>T	ENSP00000497935.1:p.Arg1100Ter
ENST00000648129.1:c.4312C>T	ENSP00000497293.1:p.Arg1438Ter
ENST00000648364.1:c.4063C>T	ENSP00000498196.1:p.Arg1355Ter
ENST00000648680.1:c.4090C>T	ENSP00000497586.1:p.Arg1364Ter
ENST00000649096.1:c.4036C>T	ENSP00000497030.1:p.Arg1346Ter
ENST00000649190.1:n.3333C>T
ENST00000649306.1:c.4138C>T	ENSP00000497678.1:p.Arg1380Ter
ENST00000650053.1:c.4036C>T	ENSP00000497824.1:p.Arg1346Ter
ENST00000650130.1:c.4312C>T	ENSP00000498082.1:p.Arg1438Ter
ENST00000650430.1:n.3411C>T
ENST00000676368.1:n.111C>T
ENST00000320389.11:c.4036C>T	ENSP00000322791.7:p.Arg1346Ter
ENST00000404283.7:c.4363C>T	ENSP00000384231.3:p.Arg1455Ter
ENST00000431776.5:c.834C>T
ENST00000460788.5:n.896C>T
ENST00000492812.5:n.811C>T
ENST00000498729.6:c.4339C>T	ENSP00000438388.1:p.Arg1447Ter
NM_001244008.1:c.4339C>T	NP_001230937.1:p.Arg1447Ter
NM_004321.6:c.4036C>T	NP_004312.2:p.Arg1346Ter
XM_005247022.1:c.4366C>T	XP_005247079.1:p.Arg1456Ter
XM_005247023.1:c.4363C>T	XP_005247080.1:p.Arg1455Ter
XM_005247024.1:c.4339C>T	XP_005247081.1:p.Arg1447Ter
XM_005247026.1:c.4063C>T	XP_005247083.1:p.Arg1355Ter
XM_005247027.1:c.4060C>T	XP_005247084.1:p.Arg1354Ter
XM_005247028.1:c.4036C>T	XP_005247085.1:p.Arg1346Ter
XM_006712605.1:c.4312C>T	XP_006712668.1:p.Arg1438Ter
XM_011511364.1:c.4366C>T	XP_011509666.1:p.Arg1456Ter
XM_011511365.1:c.4090C>T	XP_011509667.1:p.Arg1364Ter
XM_011511366.1:c.3361C>T	XP_011509668.1:p.Arg1121Ter
XM_011511367.1:c.3361C>T	XP_011509669.1:p.Arg1121Ter
NM_001320705.1:c.4063C>T	NP_001307634.1:p.Arg1355Ter
NM_001330289.1:c.4090C>T	NP_001317218.1:p.Arg1364Ter
NM_001330290.1:c.4138C>T	NP_001317219.1:p.Arg1380Ter
NM_004321.7:c.4036C>T	NP_004312.2:p.Arg1346Ter
NM_001320705.2:c.4063C>T	NP_001307634.1:p.Arg1355Ter
NM_001330289.2:c.4090C>T	NP_001317218.1:p.Arg1364Ter
NM_001330290.2:c.4138C>T	NP_001317219.1:p.Arg1380Ter
NM_001244008.2:c.4339C>T MANE Select	NP_001230937.1:p.Arg1447Ter
NM_001379631.1:c.4414C>T	NP_001366560.1:p.Arg1472Ter
NM_001379632.1:c.4315C>T	NP_001366561.1:p.Arg1439Ter
NM_001379633.1:c.4312C>T	NP_001366562.1:p.Arg1438Ter
NM_001379634.1:c.4165C>T	NP_001366563.1:p.Arg1389Ter
NM_001379635.1:c.4162C>T	NP_001366564.1:p.Arg1388Ter
NM_001379636.1:c.4150C>T	NP_001366565.1:p.Arg1384Ter
NM_001379637.1:c.4111C>T	NP_001366566.1:p.Arg1371Ter
NM_001379638.1:c.4087C>T	NP_001366567.1:p.Arg1363Ter
NM_001379639.1:c.4060C>T	NP_001366568.1:p.Arg1354Ter
NM_001379640.1:c.4033C>T	NP_001366569.1:p.Arg1345Ter
NM_001379641.1:c.4036C>T	NP_001366570.1:p.Arg1346Ter
NM_001379642.1:c.4339C>T	NP_001366571.1:p.Arg1447Ter
NM_001379645.1:c.4312C>T	NP_001366574.1:p.Arg1438Ter
NM_001379646.1:c.4162C>T	NP_001366575.1:p.Arg1388Ter
NM_001379648.1:c.4138C>T	NP_001366577.1:p.Arg1380Ter
NM_001379649.1:c.4063C>T	NP_001366578.1:p.Arg1355Ter
NM_001379650.1:c.4036C>T	NP_001366579.1:p.Arg1346Ter
NM_001379651.1:c.4036C>T	NP_001366580.1:p.Arg1346Ter
NM_001379653.1:c.4036C>T	NP_001366582.1:p.Arg1346Ter
NM_004321.8:c.4036C>T	NP_004312.2:p.Arg1346Ter