Canonical Allele Identifier: CA17852542

Gene: KIF1B

Linked Data

• ClinVar Variation Id: 476787
• ClinVar RCV Id: RCV000546378 ; RCV004024387
• dbSNP Id: rs960083901
• gnomAD v4: 1-10368475-A-G
• MyVariant Identifiers: chr1:g.10428533A>G (hg19) ; chr1:g.10368475A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.10368475A>G , CM000663.2:g.10368475A>G	GRCh38
NC_000001.10:g.10428533A>G , CM000663.1:g.10428533A>G	GRCh37
NC_000001.9:g.10351120A>G	NCBI36
NG_008069.1:g.162770A>G , LRG_252:g.162770A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696502.1:c.4824A>G	ENSP00000512668.1:p.Gln1608=
ENST00000696503.1:c.4686A>G	ENSP00000512669.1:p.Gln1562=
ENST00000696504.1:c.4686A>G	ENSP00000512670.1:p.Gln1562=
ENST00000676179.1:c.4761A>G MANE Select	ENSP00000502065.1:p.Gln1587=
ENST00000263934.10:c.4623A>G	ENSP00000263934.6:p.Gln1541=
ENST00000377081.5:c.4761A>G	ENSP00000366284.1:p.Gln1587=
ENST00000377086.5:c.4761A>G	ENSP00000366290.1:p.Gln1587=
ENST00000470616.1:n.492A>G
ENST00000620295.2:c.4719A>G	ENSP00000478500.1:p.Gln1573=
ENST00000622724.3:c.4683A>G	ENSP00000480063.1:p.Gln1561=
ENST00000635499.1:c.806A>G
NM_015074.3:c.4623A>G , LRG_252t1:c.4623A>G	NP_055889.2:p.Gln1541=
NM_001365951.1:c.4761A>G	NP_001352880.1:p.Gln1587=
NM_001365952.1:c.4761A>G	NP_001352881.1:p.Gln1587=
NM_001365951.3:c.4761A>G MANE Select	NP_001352880.1:p.Gln1587=