Canonical Allele Identifier: CA581462

Gene: KIF1B

Linked Data

• ClinVar Variation Id: 1784629
• ClinVar RCV Id: RCV002419658 ; RCV003581864
• dbSNP Id: rs763303622
• ExAC: 1:10380147 G / A
• gnomAD v2: 1-10380147-G-A
• gnomAD v4: 1-10320089-G-A
• COSMIC: COSM674554
• MyVariant Identifiers: chr1:g.10380147G>A (hg19) ; chr1:g.10320089G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.10320089G>A , CM000663.2:g.10320089G>A	GRCh38
NC_000001.10:g.10380147G>A , CM000663.1:g.10380147G>A	GRCh37
NC_000001.9:g.10302734G>A	NCBI36
NG_008069.1:g.114384G>A , LRG_252:g.114384G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000696502.1:c.2024G>A	ENSP00000512668.1:p.Arg675Gln
ENST00000696503.1:c.2087G>A	ENSP00000512669.1:p.Arg696Gln
ENST00000696504.1:c.2087G>A	ENSP00000512670.1:p.Arg696Gln
ENST00000676179.1:c.2162G>A MANE Select	ENSP00000502065.1:p.Arg721Gln
ENST00000263934.10:c.2024G>A	ENSP00000263934.6:p.Arg675Gln
ENST00000377081.5:c.2162G>A	ENSP00000366284.1:p.Arg721Gln
ENST00000377086.5:c.2162G>A	ENSP00000366290.1:p.Arg721Gln
ENST00000620295.2:c.2120G>A	ENSP00000478500.1:p.Arg707Gln
ENST00000622724.3:c.2084G>A	ENSP00000480063.1:p.Arg695Gln
NM_015074.3:c.2024G>A , LRG_252t1:c.2024G>A	NP_055889.2:p.Arg675Gln
NM_001365951.1:c.2162G>A	NP_001352880.1:p.Arg721Gln
NM_001365952.1:c.2162G>A	NP_001352881.1:p.Arg721Gln
NM_001365951.3:c.2162G>A MANE Select	NP_001352880.1:p.Arg721Gln