Canonical Allele Identifier: CA581864
Gene: KIF1B HGNC NCBI

Linked Data

ClinVar Variation Id: 291573
dbSNP Id: rs745380720
gnomAD v2: 1-10405939-G-T
gnomAD v3: 1-10345881-G-T
gnomAD v4: 1-10345881-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.10345881G>T , CM000663.2:g.10345881G>T GRCh38
NC_000001.10:g.10405939G>T , CM000663.1:g.10405939G>T GRCh37
NC_000001.9:g.10328526G>T NCBI36
NG_008069.1:g.140176G>T , LRG_252:g.140176G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696502.1:c.3788G>T ENSP00000512668.1:p.Ser1263Ile
ENST00000696503.1:c.3650G>T ENSP00000512669.1:p.Ser1217Ile
ENST00000696504.1:c.3650G>T ENSP00000512670.1:p.Ser1217Ile
ENST00000676179.1:c.3725G>T MANE Select ENSP00000502065.1:p.Ser1242Ile
ENST00000263934.10:c.3587G>T ENSP00000263934.6:p.Ser1196Ile
ENST00000377081.5:c.3725G>T ENSP00000366284.1:p.Ser1242Ile
ENST00000377086.5:c.3725G>T ENSP00000366290.1:p.Ser1242Ile
ENST00000465635.5:n.180G>T
ENST00000483340.1:n.261G>T
ENST00000620295.2:c.3683G>T ENSP00000478500.1:p.Ser1228Ile
ENST00000622724.3:c.3647G>T ENSP00000480063.1:p.Ser1216Ile
NM_015074.3:c.3587G>T , LRG_252t1:c.3587G>T NP_055889.2:p.Ser1196Ile
NM_001365951.1:c.3725G>T NP_001352880.1:p.Ser1242Ile
NM_001365952.1:c.3725G>T NP_001352881.1:p.Ser1242Ile
NM_001365951.3:c.3725G>T MANE Select NP_001352880.1:p.Ser1242Ile