Canonical Allele Identifier: CA581655
Gene: KIF1B HGNC NCBI

Linked Data

ClinVar Variation Id: 476784
dbSNP Id: rs78611156
gnomAD v2: 1-10394623-C-A
gnomAD v3: 1-10334565-C-A
gnomAD v4: 1-10334565-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.10334565C>A , CM000663.2:g.10334565C>A GRCh38
NC_000001.10:g.10394623C>A , CM000663.1:g.10394623C>A GRCh37
NC_000001.9:g.10317210C>A NCBI36
NG_008069.1:g.128860C>A , LRG_252:g.128860C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696502.1:c.2832C>A ENSP00000512668.1:p.Ile944=
ENST00000696503.1:c.2895C>A ENSP00000512669.1:p.Ile965=
ENST00000696504.1:c.2895C>A ENSP00000512670.1:p.Ile965=
ENST00000676179.1:c.2970C>A MANE Select ENSP00000502065.1:p.Ile990=
ENST00000263934.10:c.2832C>A ENSP00000263934.6:p.Ile944=
ENST00000377081.5:c.2970C>A ENSP00000366284.1:p.Ile990=
ENST00000377086.5:c.2970C>A ENSP00000366290.1:p.Ile990=
ENST00000620295.2:c.2928C>A ENSP00000478500.1:p.Ile976=
ENST00000622724.3:c.2892C>A ENSP00000480063.1:p.Ile964=
NM_015074.3:c.2832C>A , LRG_252t1:c.2832C>A NP_055889.2:p.Ile944=
NM_001365951.1:c.2970C>A NP_001352880.1:p.Ile990=
NM_001365952.1:c.2970C>A NP_001352881.1:p.Ile990=
NM_001365951.3:c.2970C>A MANE Select NP_001352880.1:p.Ile990=