Canonical Allele Identifier: CA338315492

Gene: KIF1B

Linked Data

• ClinVar Variation Id: 1777161
• ClinVar RCV Id: RCV002394986
• MyVariant Identifiers: chr1:g.10356646T>C (hg19) ; chr1:g.10296588T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.10296588T>C , CM000663.2:g.10296588T>C	GRCh38
NC_000001.10:g.10356646T>C , CM000663.1:g.10356646T>C	GRCh37
NC_000001.9:g.10279233T>C	NCBI36
NG_008069.1:g.90883T>C , LRG_252:g.90883T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000696500.1:c.*818T>C	ENSP00000512666.1:n.*818T>C
ENST00000696502.1:c.1646T>C	ENSP00000512668.1:p.Val549Ala
ENST00000696503.1:c.1709T>C	ENSP00000512669.1:p.Val570Ala
ENST00000696504.1:c.1709T>C	ENSP00000512670.1:p.Val570Ala
ENST00000377093.9:c.1646T>C	ENSP00000366297.4:p.Val549Ala
ENST00000676179.1:c.1784T>C MANE Select	ENSP00000502065.1:p.Val595Ala
ENST00000263934.10:c.1646T>C	ENSP00000263934.6:p.Val549Ala
ENST00000377081.5:c.1784T>C	ENSP00000366284.1:p.Val595Ala
ENST00000377083.5:c.1646T>C	ENSP00000366287.1:p.Val549Ala
ENST00000377086.5:c.1784T>C	ENSP00000366290.1:p.Val595Ala
ENST00000377093.8:c.1646T>C	ENSP00000366297.4:p.Val549Ala
ENST00000620295.2:c.1742T>C	ENSP00000478500.1:p.Val581Ala
ENST00000622724.3:c.1706T>C	ENSP00000480063.1:p.Val569Ala
NM_015074.3:c.1646T>C , LRG_252t1:c.1646T>C	NP_055889.2:p.Val549Ala
NM_183416.3:c.1646T>C	NP_904325.2:p.Val549Ala
NM_001365951.1:c.1784T>C	NP_001352880.1:p.Val595Ala
NM_001365952.1:c.1784T>C	NP_001352881.1:p.Val595Ala
NM_001365953.1:c.1646T>C	NP_001352882.1:p.Val549Ala
NM_001365951.3:c.1784T>C MANE Select	NP_001352880.1:p.Val595Ala
NM_183416.4:c.1646T>C	NP_904325.2:p.Val549Ala