Canonical Allele Identifier: CA338340199

Gene: KIF1B

Linked Data

• ClinVar Variation Id: 2497105
• ClinVar RCV Id: RCV003216682
• MyVariant Identifiers: chr1:g.10397429A>G (hg19) ; chr1:g.10337371A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.10337371A>G , CM000663.2:g.10337371A>G	GRCh38
NC_000001.10:g.10397429A>G , CM000663.1:g.10397429A>G	GRCh37
NC_000001.9:g.10320016A>G	NCBI36
NG_008069.1:g.131666A>G , LRG_252:g.131666A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000696502.1:c.3122A>G	ENSP00000512668.1:p.Asp1041Gly
ENST00000696503.1:c.3185A>G	ENSP00000512669.1:p.Asp1062Gly
ENST00000696504.1:c.3185A>G	ENSP00000512670.1:p.Asp1062Gly
ENST00000676179.1:c.3260A>G MANE Select	ENSP00000502065.1:p.Asp1087Gly
ENST00000263934.10:c.3122A>G	ENSP00000263934.6:p.Asp1041Gly
ENST00000377081.5:c.3260A>G	ENSP00000366284.1:p.Asp1087Gly
ENST00000377086.5:c.3260A>G	ENSP00000366290.1:p.Asp1087Gly
ENST00000620295.2:c.3218A>G	ENSP00000478500.1:p.Asp1073Gly
ENST00000622724.3:c.3182A>G	ENSP00000480063.1:p.Asp1061Gly
NM_015074.3:c.3122A>G , LRG_252t1:c.3122A>G	NP_055889.2:p.Asp1041Gly
NM_001365951.1:c.3260A>G	NP_001352880.1:p.Asp1087Gly
NM_001365952.1:c.3260A>G	NP_001352881.1:p.Asp1087Gly
NM_001365951.3:c.3260A>G MANE Select	NP_001352880.1:p.Asp1087Gly