Canonical Allele Identifier: CA581554

Gene: KIF1B

Linked Data

• ClinVar Variation Id: 501119
• ClinVar RCV Id: RCV000592018 ; RCV001393026 ; RCV001173604 ; RCV003935620 ; RCV004024810
• dbSNP Id: rs139572764
• ExAC: 1:10384829 T / A
• gnomAD v2: 1-10384829-T-A
• gnomAD v3: 1-10324771-T-A
• gnomAD v4: 1-10324771-T-A
• MyVariant Identifiers: chr1:g.10384829T>A (hg19) ; chr1:g.10324771T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.10324771T>A , CM000663.2:g.10324771T>A	GRCh38
NC_000001.10:g.10384829T>A , CM000663.1:g.10384829T>A	GRCh37
NC_000001.9:g.10307416T>A	NCBI36
NG_008069.1:g.119066T>A , LRG_252:g.119066T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696502.1:c.2413T>A	ENSP00000512668.1:p.Leu805Met
ENST00000696503.1:c.2476T>A	ENSP00000512669.1:p.Leu826Met
ENST00000696504.1:c.2476T>A	ENSP00000512670.1:p.Leu826Met
ENST00000676179.1:c.2551T>A MANE Select	ENSP00000502065.1:p.Leu851Met
ENST00000263934.10:c.2413T>A	ENSP00000263934.6:p.Leu805Met
ENST00000377081.5:c.2551T>A	ENSP00000366284.1:p.Leu851Met
ENST00000377086.5:c.2551T>A	ENSP00000366290.1:p.Leu851Met
ENST00000620295.2:c.2509T>A	ENSP00000478500.1:p.Leu837Met
ENST00000622724.3:c.2473T>A	ENSP00000480063.1:p.Leu825Met
NM_015074.3:c.2413T>A , LRG_252t1:c.2413T>A	NP_055889.2:p.Leu805Met
NM_001365951.1:c.2551T>A	NP_001352880.1:p.Leu851Met
NM_001365952.1:c.2551T>A	NP_001352881.1:p.Leu851Met
NM_001365951.3:c.2551T>A MANE Select	NP_001352880.1:p.Leu851Met