Canonical Allele Identifier: CA2207238

Gene: KIF1A

Linked Data

• ClinVar Variation Id: 377159
• ClinVar RCV Id: RCV000418762 ; RCV000500845 ; RCV001324698 ; RCV002524723
• dbSNP Id: rs184939069
• ExAC: 2:241659241 G / T
• gnomAD v2: 2-241659241-G-T
• gnomAD v3: 2-240719824-G-T
• gnomAD v4: 2-240719824-G-T
• MyVariant Identifiers: chr2:g.241659241G>T (hg19) ; chr2:g.240719824G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240719824G>T , CM000664.2:g.240719824G>T	GRCh38
NC_000002.11:g.241659241G>T , CM000664.1:g.241659241G>T	GRCh37
NC_000002.10:g.241307914G>T	NCBI36
NG_029724.1:g.105384C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320389.12:c.4692C>A	ENSP00000322791.8:p.Asp1564Glu
ENST00000404283.9:c.4995C>A	ENSP00000384231.5:p.Asp1665Glu
ENST00000431776.6:c.1791C>A	ENSP00000414613.2:p.Asp597Glu
ENST00000492812.6:n.3554C>A
ENST00000498729.9:c.4971C>A MANE Select	ENSP00000438388.1:p.Asp1657Glu
ENST00000647731.1:c.4695C>A	ENSP00000498099.1:p.Asp1565Glu
ENST00000647885.1:c.4782C>A	ENSP00000497739.1:p.Asp1594Glu
ENST00000648047.1:c.3930C>A	ENSP00000497935.1:p.Asp1310Glu
ENST00000648129.1:c.4944C>A	ENSP00000497293.1:p.Asp1648Glu
ENST00000648364.1:c.4695C>A	ENSP00000498196.1:p.Asp1565Glu
ENST00000648680.1:c.4722C>A	ENSP00000497586.1:p.Asp1574Glu
ENST00000649096.1:c.4668C>A	ENSP00000497030.1:p.Asp1556Glu
ENST00000649190.1:n.3965C>A
ENST00000649306.1:c.4770C>A	ENSP00000497678.1:p.Asp1590Glu
ENST00000650053.1:c.4668C>A	ENSP00000497824.1:p.Asp1556Glu
ENST00000650130.1:c.4944C>A	ENSP00000498082.1:p.Asp1648Glu
ENST00000650430.1:n.4043C>A
ENST00000675644.1:c.393C>A	ENSP00000502435.1:n.393C>A
ENST00000675932.1:c.248C>A	ENSP00000502786.1:p.Thr83Lys
ENST00000320389.11:c.4668C>A	ENSP00000322791.7:p.Asp1556Glu
ENST00000460788.5:n.1528C>A
ENST00000488776.1:n.462C>A
ENST00000492812.5:n.1443C>A
ENST00000498729.6:c.4971C>A	ENSP00000438388.1:p.Asp1657Glu
NM_001244008.1:c.4971C>A	NP_001230937.1:p.Asp1657Glu
NM_004321.6:c.4668C>A	NP_004312.2:p.Asp1556Glu
XM_005247022.1:c.4998C>A	XP_005247079.1:p.Asp1666Glu
XM_005247023.1:c.4995C>A	XP_005247080.1:p.Asp1665Glu
XM_005247024.1:c.4971C>A	XP_005247081.1:p.Asp1657Glu
XM_005247026.1:c.4695C>A	XP_005247083.1:p.Asp1565Glu
XM_005247027.1:c.4692C>A	XP_005247084.1:p.Asp1564Glu
XM_005247028.1:c.4668C>A	XP_005247085.1:p.Asp1556Glu
XM_006712605.1:c.4944C>A	XP_006712668.1:p.Asp1648Glu
XM_011511364.1:c.4998C>A	XP_011509666.1:p.Asp1666Glu
XM_011511365.1:c.4722C>A	XP_011509667.1:p.Asp1574Glu
XM_011511366.1:c.3993C>A	XP_011509668.1:p.Asp1331Glu
XM_011511367.1:c.3993C>A	XP_011509669.1:p.Asp1331Glu
NM_001320705.1:c.4695C>A	NP_001307634.1:p.Asp1565Glu
NM_001330289.1:c.4722C>A	NP_001317218.1:p.Asp1574Glu
NM_001330290.1:c.4770C>A	NP_001317219.1:p.Asp1590Glu
NM_004321.7:c.4668C>A	NP_004312.2:p.Asp1556Glu
NM_001320705.2:c.4695C>A	NP_001307634.1:p.Asp1565Glu
NM_001330289.2:c.4722C>A	NP_001317218.1:p.Asp1574Glu
NM_001330290.2:c.4770C>A	NP_001317219.1:p.Asp1590Glu
NM_001244008.2:c.4971C>A MANE Select	NP_001230937.1:p.Asp1657Glu
NM_001379631.1:c.5046C>A	NP_001366560.1:p.Asp1682Glu
NM_001379632.1:c.4947C>A	NP_001366561.1:p.Asp1649Glu
NM_001379633.1:c.4944C>A	NP_001366562.1:p.Asp1648Glu
NM_001379634.1:c.4797C>A	NP_001366563.1:p.Asp1599Glu
NM_001379635.1:c.4794C>A	NP_001366564.1:p.Asp1598Glu
NM_001379636.1:c.4782C>A	NP_001366565.1:p.Asp1594Glu
NM_001379637.1:c.4743C>A	NP_001366566.1:p.Asp1581Glu
NM_001379638.1:c.4719C>A	NP_001366567.1:p.Asp1573Glu
NM_001379639.1:c.4692C>A	NP_001366568.1:p.Asp1564Glu
NM_001379640.1:c.4665C>A	NP_001366569.1:p.Asp1555Glu
NM_001379641.1:c.4668C>A	NP_001366570.1:p.Asp1556Glu
NM_001379642.1:c.4971C>A	NP_001366571.1:p.Asp1657Glu
NM_001379645.1:c.4944C>A	NP_001366574.1:p.Asp1648Glu
NM_001379646.1:c.4794C>A	NP_001366575.1:p.Asp1598Glu
NM_001379648.1:c.4770C>A	NP_001366577.1:p.Asp1590Glu
NM_001379649.1:c.4695C>A	NP_001366578.1:p.Asp1565Glu
NM_001379650.1:c.4668C>A	NP_001366579.1:p.Asp1556Glu
NM_001379651.1:c.4668C>A	NP_001366580.1:p.Asp1556Glu
NM_001379653.1:c.4668C>A	NP_001366582.1:p.Asp1556Glu
NM_004321.8:c.4668C>A	NP_004312.2:p.Asp1556Glu