Canonical Allele Identifier: CA581747

Gene: KIF1B

Linked Data

• dbSNP Id: rs765823745
• ExAC: 1:10397433 G / C
• gnomAD v2: 1-10397433-G-C
• gnomAD v3: 1-10337375-G-C
• gnomAD v4: 1-10337375-G-C
• MyVariant Identifiers: chr1:g.10397433G>C (hg19) ; chr1:g.10337375G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.10337375G>C , CM000663.2:g.10337375G>C	GRCh38
NC_000001.10:g.10397433G>C , CM000663.1:g.10397433G>C	GRCh37
NC_000001.9:g.10320020G>C	NCBI36
NG_008069.1:g.131670G>C , LRG_252:g.131670G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000696502.1:c.3126G>C	ENSP00000512668.1:p.Leu1042Phe
ENST00000696503.1:c.3189G>C	ENSP00000512669.1:p.Leu1063Phe
ENST00000696504.1:c.3189G>C	ENSP00000512670.1:p.Leu1063Phe
ENST00000676179.1:c.3264G>C MANE Select	ENSP00000502065.1:p.Leu1088Phe
ENST00000263934.10:c.3126G>C	ENSP00000263934.6:p.Leu1042Phe
ENST00000377081.5:c.3264G>C	ENSP00000366284.1:p.Leu1088Phe
ENST00000377086.5:c.3264G>C	ENSP00000366290.1:p.Leu1088Phe
ENST00000620295.2:c.3222G>C	ENSP00000478500.1:p.Leu1074Phe
ENST00000622724.3:c.3186G>C	ENSP00000480063.1:p.Leu1062Phe
NM_015074.3:c.3126G>C , LRG_252t1:c.3126G>C	NP_055889.2:p.Leu1042Phe
NM_001365951.1:c.3264G>C	NP_001352880.1:p.Leu1088Phe
NM_001365952.1:c.3264G>C	NP_001352881.1:p.Leu1088Phe
NM_001365951.3:c.3264G>C MANE Select	NP_001352880.1:p.Leu1088Phe