Canonical Allele Identifier: CA338340404

Gene: KIF1B

Linked Data

• ClinVar Variation Id: 1319765
• ClinVar RCV Id: RCV003238020 ; RCV004040759
• dbSNP Id: rs751916846
• gnomAD v4: 1-10337415-G-A
• MyVariant Identifiers: chr1:g.10397473G>A (hg19) ; chr1:g.10337415G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.10337415G>A , CM000663.2:g.10337415G>A	GRCh38
NC_000001.10:g.10397473G>A , CM000663.1:g.10397473G>A	GRCh37
NC_000001.9:g.10320060G>A	NCBI36
NG_008069.1:g.131710G>A , LRG_252:g.131710G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696502.1:c.3166G>A	ENSP00000512668.1:p.Gly1056Arg
ENST00000696503.1:c.3229G>A	ENSP00000512669.1:p.Gly1077Arg
ENST00000696504.1:c.3229G>A	ENSP00000512670.1:p.Gly1077Arg
ENST00000676179.1:c.3304G>A MANE Select	ENSP00000502065.1:p.Gly1102Arg
ENST00000263934.10:c.3166G>A	ENSP00000263934.6:p.Gly1056Arg
ENST00000377081.5:c.3304G>A	ENSP00000366284.1:p.Gly1102Arg
ENST00000377086.5:c.3304G>A	ENSP00000366290.1:p.Gly1102Arg
ENST00000620295.2:c.3262G>A	ENSP00000478500.1:p.Gly1088Arg
ENST00000622724.3:c.3226G>A	ENSP00000480063.1:p.Gly1076Arg
NM_015074.3:c.3166G>A , LRG_252t1:c.3166G>A	NP_055889.2:p.Gly1056Arg
NM_001365951.1:c.3304G>A	NP_001352880.1:p.Gly1102Arg
NM_001365952.1:c.3304G>A	NP_001352881.1:p.Gly1102Arg
NM_001365951.3:c.3304G>A MANE Select	NP_001352880.1:p.Gly1102Arg