Canonical Allele Identifier: CA338342511

Gene: KIF1B

Linked Data

• ClinVar Variation Id: 956809
• ClinVar RCV Id: RCV001229687
• dbSNP Id: rs1490841470
• gnomAD v2: 1-10405974-G-A
• gnomAD v4: 1-10345916-G-A
• MyVariant Identifiers: chr1:g.10405974G>A (hg19) ; chr1:g.10345916G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.10345916G>A , CM000663.2:g.10345916G>A	GRCh38
NC_000001.10:g.10405974G>A , CM000663.1:g.10405974G>A	GRCh37
NC_000001.9:g.10328561G>A	NCBI36
NG_008069.1:g.140211G>A , LRG_252:g.140211G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696502.1:c.3823G>A	ENSP00000512668.1:p.Val1275Ile
ENST00000696503.1:c.3685G>A	ENSP00000512669.1:p.Val1229Ile
ENST00000696504.1:c.3685G>A	ENSP00000512670.1:p.Val1229Ile
ENST00000676179.1:c.3760G>A MANE Select	ENSP00000502065.1:p.Val1254Ile
ENST00000263934.10:c.3622G>A	ENSP00000263934.6:p.Val1208Ile
ENST00000377081.5:c.3760G>A	ENSP00000366284.1:p.Val1254Ile
ENST00000377086.5:c.3760G>A	ENSP00000366290.1:p.Val1254Ile
ENST00000465635.5:n.215G>A
ENST00000483340.1:n.296G>A
ENST00000620295.2:c.3718G>A	ENSP00000478500.1:p.Val1240Ile
ENST00000622724.3:c.3682G>A	ENSP00000480063.1:p.Val1228Ile
NM_015074.3:c.3622G>A , LRG_252t1:c.3622G>A	NP_055889.2:p.Val1208Ile
NM_001365951.1:c.3760G>A	NP_001352880.1:p.Val1254Ile
NM_001365952.1:c.3760G>A	NP_001352881.1:p.Val1254Ile
NM_001365951.3:c.3760G>A MANE Select	NP_001352880.1:p.Val1254Ile