Canonical Allele Identifier: CA581916

Gene: KIF1B

Linked Data

• ClinVar Variation Id: 1734527
• ClinVar RCV Id: RCV003743945 ; RCV004049820
• dbSNP Id: rs745760971
• ExAC: 1:10408728 G / C
• gnomAD v2: 1-10408728-G-C
• gnomAD v3: 1-10348670-G-C
• gnomAD v4: 1-10348670-G-C
• MyVariant Identifiers: chr1:g.10408728G>C (hg19) ; chr1:g.10348670G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.10348670G>C , CM000663.2:g.10348670G>C	GRCh38
NC_000001.10:g.10408728G>C , CM000663.1:g.10408728G>C	GRCh37
NC_000001.9:g.10331315G>C	NCBI36
NG_008069.1:g.142965G>C , LRG_252:g.142965G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696502.1:c.3949G>C	ENSP00000512668.1:p.Val1317Leu
ENST00000696503.1:c.3811G>C	ENSP00000512669.1:p.Val1271Leu
ENST00000696504.1:c.3811G>C	ENSP00000512670.1:p.Val1271Leu
ENST00000676179.1:c.3886G>C MANE Select	ENSP00000502065.1:p.Val1296Leu
ENST00000263934.10:c.3748G>C	ENSP00000263934.6:p.Val1250Leu
ENST00000377081.5:c.3886G>C	ENSP00000366284.1:p.Val1296Leu
ENST00000377086.5:c.3886G>C	ENSP00000366290.1:p.Val1296Leu
ENST00000465635.5:n.341G>C
ENST00000483340.1:n.422G>C
ENST00000620295.2:c.3844G>C	ENSP00000478500.1:p.Val1282Leu
ENST00000622724.3:c.3808G>C	ENSP00000480063.1:p.Val1270Leu
NM_015074.3:c.3748G>C , LRG_252t1:c.3748G>C	NP_055889.2:p.Val1250Leu
NM_001365951.1:c.3886G>C	NP_001352880.1:p.Val1296Leu
NM_001365952.1:c.3886G>C	NP_001352881.1:p.Val1296Leu
NM_001365951.3:c.3886G>C MANE Select	NP_001352880.1:p.Val1296Leu