Canonical Allele Identifier: CA2207190

Gene: KIF1A

Linked Data

• ClinVar Variation Id: 426987
• ClinVar RCV Id: RCV000700081 ; RCV000489290 ; RCV000764390
• dbSNP Id: rs757070178
• ExAC: 2:241658608 C / T
• gnomAD v2: 2-241658608-C-T
• gnomAD v3: 2-240719191-C-T
• gnomAD v4: 2-240719191-C-T
• MyVariant Identifiers: chr2:g.241658608C>T (hg19) ; chr2:g.240719191C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240719191C>T , CM000664.2:g.240719191C>T	GRCh38
NC_000002.11:g.241658608C>T , CM000664.1:g.241658608C>T	GRCh37
NC_000002.10:g.241307281C>T	NCBI36
NG_029724.1:g.106017G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320389.12:c.4750G>A	ENSP00000322791.8:p.Val1584Ile
ENST00000404283.9:c.5053G>A	ENSP00000384231.5:p.Val1685Ile
ENST00000431776.6:c.1849G>A	ENSP00000414613.2:p.Val617Ile
ENST00000492812.6:n.3612G>A
ENST00000498729.9:c.5029G>A MANE Select	ENSP00000438388.1:p.Val1677Ile
ENST00000647731.1:c.4753G>A	ENSP00000498099.1:p.Val1585Ile
ENST00000647885.1:c.4840G>A	ENSP00000497739.1:p.Val1614Ile
ENST00000648047.1:c.3988G>A	ENSP00000497935.1:p.Val1330Ile
ENST00000648129.1:c.5002G>A	ENSP00000497293.1:p.Val1668Ile
ENST00000648364.1:c.4753G>A	ENSP00000498196.1:p.Val1585Ile
ENST00000648680.1:c.4780G>A	ENSP00000497586.1:p.Val1594Ile
ENST00000649096.1:c.4726G>A	ENSP00000497030.1:p.Val1576Ile
ENST00000649190.1:n.4023G>A
ENST00000649306.1:c.4828G>A	ENSP00000497678.1:p.Val1610Ile
ENST00000650053.1:c.4726G>A	ENSP00000497824.1:p.Val1576Ile
ENST00000650130.1:c.5002G>A	ENSP00000498082.1:p.Val1668Ile
ENST00000650430.1:n.4101G>A
ENST00000320389.11:c.4726G>A	ENSP00000322791.7:p.Val1576Ile
ENST00000460788.5:n.1586G>A
ENST00000488776.1:n.520G>A
ENST00000492812.5:n.1501G>A
ENST00000498729.6:c.5029G>A	ENSP00000438388.1:p.Val1677Ile
NM_001244008.1:c.5029G>A	NP_001230937.1:p.Val1677Ile
NM_004321.6:c.4726G>A	NP_004312.2:p.Val1576Ile
XM_005247022.1:c.5056G>A	XP_005247079.1:p.Val1686Ile
XM_005247023.1:c.5053G>A	XP_005247080.1:p.Val1685Ile
XM_005247024.1:c.5029G>A	XP_005247081.1:p.Val1677Ile
XM_005247026.1:c.4753G>A	XP_005247083.1:p.Val1585Ile
XM_005247027.1:c.4750G>A	XP_005247084.1:p.Val1584Ile
XM_005247028.1:c.4726G>A	XP_005247085.1:p.Val1576Ile
XM_006712605.1:c.5002G>A	XP_006712668.1:p.Val1668Ile
XM_011511364.1:c.5056G>A	XP_011509666.1:p.Val1686Ile
XM_011511365.1:c.4780G>A	XP_011509667.1:p.Val1594Ile
XM_011511366.1:c.4051G>A	XP_011509668.1:p.Val1351Ile
XM_011511367.1:c.4051G>A	XP_011509669.1:p.Val1351Ile
NM_001320705.1:c.4753G>A	NP_001307634.1:p.Val1585Ile
NM_001330289.1:c.4780G>A	NP_001317218.1:p.Val1594Ile
NM_001330290.1:c.4828G>A	NP_001317219.1:p.Val1610Ile
NM_004321.7:c.4726G>A	NP_004312.2:p.Val1576Ile
NM_001320705.2:c.4753G>A	NP_001307634.1:p.Val1585Ile
NM_001330289.2:c.4780G>A	NP_001317218.1:p.Val1594Ile
NM_001330290.2:c.4828G>A	NP_001317219.1:p.Val1610Ile
NM_001244008.2:c.5029G>A MANE Select	NP_001230937.1:p.Val1677Ile
NM_001379631.1:c.5104G>A	NP_001366560.1:p.Val1702Ile
NM_001379632.1:c.5005G>A	NP_001366561.1:p.Val1669Ile
NM_001379633.1:c.5002G>A	NP_001366562.1:p.Val1668Ile
NM_001379634.1:c.4855G>A	NP_001366563.1:p.Val1619Ile
NM_001379635.1:c.4852G>A	NP_001366564.1:p.Val1618Ile
NM_001379636.1:c.4840G>A	NP_001366565.1:p.Val1614Ile
NM_001379637.1:c.4801G>A	NP_001366566.1:p.Val1601Ile
NM_001379638.1:c.4777G>A	NP_001366567.1:p.Val1593Ile
NM_001379639.1:c.4750G>A	NP_001366568.1:p.Val1584Ile
NM_001379640.1:c.4723G>A	NP_001366569.1:p.Val1575Ile
NM_001379641.1:c.4726G>A	NP_001366570.1:p.Val1576Ile
NM_001379642.1:c.5029G>A	NP_001366571.1:p.Val1677Ile
NM_001379645.1:c.5002G>A	NP_001366574.1:p.Val1668Ile
NM_001379646.1:c.4852G>A	NP_001366575.1:p.Val1618Ile
NM_001379648.1:c.4828G>A	NP_001366577.1:p.Val1610Ile
NM_001379649.1:c.4753G>A	NP_001366578.1:p.Val1585Ile
NM_001379650.1:c.4726G>A	NP_001366579.1:p.Val1576Ile
NM_001379651.1:c.4726G>A	NP_001366580.1:p.Val1576Ile
NM_001379653.1:c.4726G>A	NP_001366582.1:p.Val1576Ile
NM_004321.8:c.4726G>A	NP_004312.2:p.Val1576Ile