Canonical Allele Identifier: CA338335837

Gene: KIF1B

Linked Data

• ClinVar Variation Id: 2563625
• ClinVar RCV Id: RCV004332250
• MyVariant Identifiers: chr1:g.10384944T>G (hg19) ; chr1:g.10324886T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.10324886T>G , CM000663.2:g.10324886T>G	GRCh38
NC_000001.10:g.10384944T>G , CM000663.1:g.10384944T>G	GRCh37
NC_000001.9:g.10307531T>G	NCBI36
NG_008069.1:g.119181T>G , LRG_252:g.119181T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696502.1:c.2528T>G	ENSP00000512668.1:p.Leu843Arg
ENST00000696503.1:c.2591T>G	ENSP00000512669.1:p.Leu864Arg
ENST00000696504.1:c.2591T>G	ENSP00000512670.1:p.Leu864Arg
ENST00000676179.1:c.2666T>G MANE Select	ENSP00000502065.1:p.Leu889Arg
ENST00000263934.10:c.2528T>G	ENSP00000263934.6:p.Leu843Arg
ENST00000377081.5:c.2666T>G	ENSP00000366284.1:p.Leu889Arg
ENST00000377086.5:c.2666T>G	ENSP00000366290.1:p.Leu889Arg
ENST00000620295.2:c.2624T>G	ENSP00000478500.1:p.Leu875Arg
ENST00000622724.3:c.2588T>G	ENSP00000480063.1:p.Leu863Arg
NM_015074.3:c.2528T>G , LRG_252t1:c.2528T>G	NP_055889.2:p.Leu843Arg
NM_001365951.1:c.2666T>G	NP_001352880.1:p.Leu889Arg
NM_001365952.1:c.2666T>G	NP_001352881.1:p.Leu889Arg
NM_001365951.3:c.2666T>G MANE Select	NP_001352880.1:p.Leu889Arg