Canonical Allele Identifier: CA2207576

Gene: KIF1A

Linked Data

• ClinVar Variation Id: 451113
• ClinVar RCV Id: RCV000523796 ; RCV002314914 ; RCV004541632 ; RCV001087401
• dbSNP Id: rs371252476
• ExAC: 2:241676559 C / T
• gnomAD v2: 2-241676559-C-T
• gnomAD v3: 2-240737142-C-T
• gnomAD v4: 2-240737142-C-T
• MyVariant Identifiers: chr2:g.241676559C>T (hg19) ; chr2:g.240737142C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240737142C>T , CM000664.2:g.240737142C>T	GRCh38
NC_000002.11:g.241676559C>T , CM000664.1:g.241676559C>T	GRCh37
NC_000002.10:g.241325232C>T	NCBI36
NG_029724.1:g.88066G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320389.12:c.3625G>A	ENSP00000322791.8:p.Asp1209Asn
ENST00000404283.9:c.3928G>A	ENSP00000384231.5:p.Asp1310Asn
ENST00000431776.6:c.697G>A	ENSP00000414613.2:p.Asp233Asn
ENST00000492812.6:n.1090G>A
ENST00000498729.9:c.3928G>A MANE Select	ENSP00000438388.1:p.Asp1310Asn
ENST00000647731.1:c.3625G>A	ENSP00000498099.1:p.Asp1209Asn
ENST00000647885.1:c.3739G>A	ENSP00000497739.1:p.Asp1247Asn
ENST00000648047.1:c.2863G>A	ENSP00000497935.1:p.Asp955Asn
ENST00000648129.1:c.3901G>A	ENSP00000497293.1:p.Asp1301Asn
ENST00000648364.1:c.3652G>A	ENSP00000498196.1:p.Asp1218Asn
ENST00000648680.1:c.3652G>A	ENSP00000497586.1:p.Asp1218Asn
ENST00000649064.1:n.3783G>A
ENST00000649096.1:c.3625G>A	ENSP00000497030.1:p.Asp1209Asn
ENST00000649190.1:n.2922G>A
ENST00000649306.1:c.3727G>A	ENSP00000497678.1:p.Asp1243Asn
ENST00000650053.1:c.3625G>A	ENSP00000497824.1:p.Asp1209Asn
ENST00000650130.1:c.3901G>A	ENSP00000498082.1:p.Asp1301Asn
ENST00000650430.1:n.3000G>A
ENST00000320389.11:c.3625G>A	ENSP00000322791.7:p.Asp1209Asn
ENST00000404283.7:c.3928G>A	ENSP00000384231.3:p.Asp1310Asn
ENST00000431776.5:c.396G>A
ENST00000494452.1:n.401G>A
ENST00000498729.6:c.3928G>A	ENSP00000438388.1:p.Asp1310Asn
NM_001244008.1:c.3928G>A	NP_001230937.1:p.Asp1310Asn
NM_004321.6:c.3625G>A	NP_004312.2:p.Asp1209Asn
XM_005247022.1:c.3928G>A	XP_005247079.1:p.Asp1310Asn
XM_005247023.1:c.3928G>A	XP_005247080.1:p.Asp1310Asn
XM_005247024.1:c.3901G>A	XP_005247081.1:p.Asp1301Asn
XM_005247026.1:c.3652G>A	XP_005247083.1:p.Asp1218Asn
XM_005247027.1:c.3625G>A	XP_005247084.1:p.Asp1209Asn
XM_005247028.1:c.3625G>A	XP_005247085.1:p.Asp1209Asn
XM_006712605.1:c.3901G>A	XP_006712668.1:p.Asp1301Asn
XM_011511364.1:c.3928G>A	XP_011509666.1:p.Asp1310Asn
XM_011511365.1:c.3652G>A	XP_011509667.1:p.Asp1218Asn
XM_011511366.1:c.2923G>A	XP_011509668.1:p.Asp975Asn
XM_011511367.1:c.2923G>A	XP_011509669.1:p.Asp975Asn
NM_001320705.1:c.3652G>A	NP_001307634.1:p.Asp1218Asn
NM_001330289.1:c.3652G>A	NP_001317218.1:p.Asp1218Asn
NM_001330290.1:c.3727G>A	NP_001317219.1:p.Asp1243Asn
NM_004321.7:c.3625G>A	NP_004312.2:p.Asp1209Asn
NM_001320705.2:c.3652G>A	NP_001307634.1:p.Asp1218Asn
NM_001330289.2:c.3652G>A	NP_001317218.1:p.Asp1218Asn
NM_001330290.2:c.3727G>A	NP_001317219.1:p.Asp1243Asn
NM_001244008.2:c.3928G>A MANE Select	NP_001230937.1:p.Asp1310Asn
NM_001379631.1:c.4003G>A	NP_001366560.1:p.Asp1335Asn
NM_001379632.1:c.3877G>A	NP_001366561.1:p.Asp1293Asn
NM_001379633.1:c.3901G>A	NP_001366562.1:p.Asp1301Asn
NM_001379634.1:c.3727G>A	NP_001366563.1:p.Asp1243Asn
NM_001379635.1:c.3727G>A	NP_001366564.1:p.Asp1243Asn
NM_001379636.1:c.3739G>A	NP_001366565.1:p.Asp1247Asn
NM_001379637.1:c.3700G>A	NP_001366566.1:p.Asp1234Asn
NM_001379638.1:c.3652G>A	NP_001366567.1:p.Asp1218Asn
NM_001379639.1:c.3625G>A	NP_001366568.1:p.Asp1209Asn
NM_001379640.1:c.3622G>A	NP_001366569.1:p.Asp1208Asn
NM_001379641.1:c.3625G>A	NP_001366570.1:p.Asp1209Asn
NM_001379642.1:c.3901G>A	NP_001366571.1:p.Asp1301Asn
NM_001379645.1:c.3901G>A	NP_001366574.1:p.Asp1301Asn
NM_001379646.1:c.3727G>A	NP_001366575.1:p.Asp1243Asn
NM_001379648.1:c.3700G>A	NP_001366577.1:p.Asp1234Asn
NM_001379649.1:c.3625G>A	NP_001366578.1:p.Asp1209Asn
NM_001379650.1:c.3625G>A	NP_001366579.1:p.Asp1209Asn
NM_001379651.1:c.3625G>A	NP_001366580.1:p.Asp1209Asn
NM_001379653.1:c.3625G>A	NP_001366582.1:p.Asp1209Asn
NM_004321.8:c.3625G>A	NP_004312.2:p.Asp1209Asn