Canonical Allele Identifier: CA116990
Gene: KIF1B HGNC NCBI

Linked Data

ClinVar Variation Id: 4660
dbSNP Id: rs121908162
gnomAD v2: 1-10384896-C-T
gnomAD v3: 1-10324838-C-T
gnomAD v4: 1-10324838-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.10324838C>T , CM000663.2:g.10324838C>T GRCh38
NC_000001.10:g.10384896C>T , CM000663.1:g.10384896C>T GRCh37
NC_000001.9:g.10307483C>T NCBI36
NG_008069.1:g.119133C>T , LRG_252:g.119133C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696502.1:c.2480C>T ENSP00000512668.1:p.Thr827Ile
ENST00000696503.1:c.2543C>T ENSP00000512669.1:p.Thr848Ile
ENST00000696504.1:c.2543C>T ENSP00000512670.1:p.Thr848Ile
ENST00000676179.1:c.2618C>T MANE Select ENSP00000502065.1:p.Thr873Ile
ENST00000263934.10:c.2480C>T ENSP00000263934.6:p.Thr827Ile
ENST00000377081.5:c.2618C>T ENSP00000366284.1:p.Thr873Ile
ENST00000377086.5:c.2618C>T ENSP00000366290.1:p.Thr873Ile
ENST00000620295.2:c.2576C>T ENSP00000478500.1:p.Thr859Ile
ENST00000622724.3:c.2540C>T ENSP00000480063.1:p.Thr847Ile
NM_015074.3:c.2480C>T , LRG_252t1:c.2480C>T NP_055889.2:p.Thr827Ile
NM_001365951.1:c.2618C>T NP_001352880.1:p.Thr873Ile
NM_001365952.1:c.2618C>T NP_001352881.1:p.Thr873Ile
NM_001365951.3:c.2618C>T MANE Select NP_001352880.1:p.Thr873Ile