Canonical Allele Identifier: CA521452746

Gene: KIF1B

Linked Data

• ClinVar Variation Id: 1595089
• ClinVar RCV Id: RCV002109366
• dbSNP Id: rs1344150193
• gnomAD v2: 1-10425447-A-G
• gnomAD v4: 1-10365389-A-G
• MyVariant Identifiers: chr1:g.10425447A>G (hg19) ; chr1:g.10365389A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.10365389A>G , CM000663.2:g.10365389A>G	GRCh38
NC_000001.10:g.10425447A>G , CM000663.1:g.10425447A>G	GRCh37
NC_000001.9:g.10348034A>G	NCBI36
NG_008069.1:g.159684A>G , LRG_252:g.159684A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696502.1:c.4576-20A>G	ENSP00000512668.1:n.4576-20A>G
ENST00000696503.1:c.4438-20A>G	ENSP00000512669.1:n.4438-20A>G
ENST00000696504.1:c.4438-20A>G	ENSP00000512670.1:n.4438-20A>G
ENST00000676179.1:c.4513-20A>G MANE Select	ENSP00000502065.1:n.4513-20A>G
ENST00000263934.10:c.4375-20A>G	ENSP00000263934.6:n.4375-20A>G
ENST00000377081.5:c.4513-20A>G	ENSP00000366284.1:n.4513-20A>G
ENST00000377086.5:c.4513-20A>G	ENSP00000366290.1:n.4513-20A>G
ENST00000470616.1:n.224A>G
ENST00000620295.2:c.4471-20A>G	ENSP00000478500.1:n.4471-20A>G
ENST00000622724.3:c.4435-20A>G	ENSP00000480063.1:n.4435-20A>G
ENST00000635499.1:c.558-20A>G
NM_015074.3:c.4375-20A>G , LRG_252t1:c.4375-20A>G	NP_055889.2:n.4375-20A>G
XR_946953.1:n.355+992T>C
NM_001365951.1:c.4513-20A>G	NP_001352880.1:n.4513-20A>G
NM_001365952.1:c.4513-20A>G	NP_001352881.1:n.4513-20A>G
XR_946953.2:n.230+992T>C
NM_001365951.3:c.4513-20A>G MANE Select	NP_001352880.1:n.4513-20A>G