Canonical Allele Identifier: CA2207170

Gene: KIF1A

Linked Data

• ClinVar Variation Id: 246454
• ClinVar RCV Id: RCV000236636 ; RCV000764388 ; RCV001068459 ; RCV000719157
• dbSNP Id: rs199574770
• ExAC: 2:241658506 C / T
• gnomAD v2: 2-241658506-C-T
• gnomAD v3: 2-240719089-C-T
• gnomAD v4: 2-240719089-C-T
• MyVariant Identifiers: chr2:g.241658506C>T (hg19) ; chr2:g.240719089C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240719089C>T , CM000664.2:g.240719089C>T	GRCh38
NC_000002.11:g.241658506C>T , CM000664.1:g.241658506C>T	GRCh37
NC_000002.10:g.241307179C>T	NCBI36
NG_029724.1:g.106119G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320389.12:c.4852G>A	ENSP00000322791.8:p.Asp1618Asn
ENST00000404283.9:c.5155G>A	ENSP00000384231.5:p.Asp1719Asn
ENST00000431776.6:c.1951G>A	ENSP00000414613.2:p.Asp651Asn
ENST00000492812.6:n.3714G>A
ENST00000498729.9:c.5131G>A MANE Select	ENSP00000438388.1:p.Asp1711Asn
ENST00000647731.1:c.4855G>A	ENSP00000498099.1:p.Asp1619Asn
ENST00000647885.1:c.4942G>A	ENSP00000497739.1:p.Asp1648Asn
ENST00000648047.1:c.4090G>A	ENSP00000497935.1:p.Asp1364Asn
ENST00000648129.1:c.5104G>A	ENSP00000497293.1:p.Asp1702Asn
ENST00000648364.1:c.4855G>A	ENSP00000498196.1:p.Asp1619Asn
ENST00000648680.1:c.4882G>A	ENSP00000497586.1:p.Asp1628Asn
ENST00000649096.1:c.4828G>A	ENSP00000497030.1:p.Asp1610Asn
ENST00000649190.1:n.4125G>A
ENST00000649306.1:c.4930G>A	ENSP00000497678.1:p.Asp1644Asn
ENST00000650053.1:c.4828G>A	ENSP00000497824.1:p.Asp1610Asn
ENST00000650130.1:c.5104G>A	ENSP00000498082.1:p.Asp1702Asn
ENST00000650430.1:n.4203G>A
ENST00000320389.11:c.4828G>A	ENSP00000322791.7:p.Asp1610Asn
ENST00000460788.5:n.1688G>A
ENST00000492812.5:n.1603G>A
ENST00000498729.6:c.5131G>A	ENSP00000438388.1:p.Asp1711Asn
NM_001244008.1:c.5131G>A	NP_001230937.1:p.Asp1711Asn
NM_004321.6:c.4828G>A	NP_004312.2:p.Asp1610Asn
XM_005247022.1:c.5158G>A	XP_005247079.1:p.Asp1720Asn
XM_005247023.1:c.5155G>A	XP_005247080.1:p.Asp1719Asn
XM_005247024.1:c.5131G>A	XP_005247081.1:p.Asp1711Asn
XM_005247026.1:c.4855G>A	XP_005247083.1:p.Asp1619Asn
XM_005247027.1:c.4852G>A	XP_005247084.1:p.Asp1618Asn
XM_005247028.1:c.4828G>A	XP_005247085.1:p.Asp1610Asn
XM_006712605.1:c.5104G>A	XP_006712668.1:p.Asp1702Asn
XM_011511364.1:c.5158G>A	XP_011509666.1:p.Asp1720Asn
XM_011511365.1:c.4882G>A	XP_011509667.1:p.Asp1628Asn
XM_011511366.1:c.4153G>A	XP_011509668.1:p.Asp1385Asn
XM_011511367.1:c.4153G>A	XP_011509669.1:p.Asp1385Asn
NM_001320705.1:c.4855G>A	NP_001307634.1:p.Asp1619Asn
NM_001330289.1:c.4882G>A	NP_001317218.1:p.Asp1628Asn
NM_001330290.1:c.4930G>A	NP_001317219.1:p.Asp1644Asn
NM_004321.7:c.4828G>A	NP_004312.2:p.Asp1610Asn
NM_001320705.2:c.4855G>A	NP_001307634.1:p.Asp1619Asn
NM_001330289.2:c.4882G>A	NP_001317218.1:p.Asp1628Asn
NM_001330290.2:c.4930G>A	NP_001317219.1:p.Asp1644Asn
NM_001244008.2:c.5131G>A MANE Select	NP_001230937.1:p.Asp1711Asn
NM_001379631.1:c.5206G>A	NP_001366560.1:p.Asp1736Asn
NM_001379632.1:c.5107G>A	NP_001366561.1:p.Asp1703Asn
NM_001379633.1:c.5104G>A	NP_001366562.1:p.Asp1702Asn
NM_001379634.1:c.4957G>A	NP_001366563.1:p.Asp1653Asn
NM_001379635.1:c.4954G>A	NP_001366564.1:p.Asp1652Asn
NM_001379636.1:c.4942G>A	NP_001366565.1:p.Asp1648Asn
NM_001379637.1:c.4903G>A	NP_001366566.1:p.Asp1635Asn
NM_001379638.1:c.4879G>A	NP_001366567.1:p.Asp1627Asn
NM_001379639.1:c.4852G>A	NP_001366568.1:p.Asp1618Asn
NM_001379640.1:c.4825G>A	NP_001366569.1:p.Asp1609Asn
NM_001379641.1:c.4828G>A	NP_001366570.1:p.Asp1610Asn
NM_001379642.1:c.5131G>A	NP_001366571.1:p.Asp1711Asn
NM_001379645.1:c.5104G>A	NP_001366574.1:p.Asp1702Asn
NM_001379646.1:c.4954G>A	NP_001366575.1:p.Asp1652Asn
NM_001379648.1:c.4930G>A	NP_001366577.1:p.Asp1644Asn
NM_001379649.1:c.4855G>A	NP_001366578.1:p.Asp1619Asn
NM_001379650.1:c.4828G>A	NP_001366579.1:p.Asp1610Asn
NM_001379651.1:c.4828G>A	NP_001366580.1:p.Asp1610Asn
NM_001379653.1:c.4828G>A	NP_001366582.1:p.Asp1610Asn
NM_004321.8:c.4828G>A	NP_004312.2:p.Asp1610Asn