Canonical Allele Identifier: CA581837
Gene: KIF1B HGNC NCBI

Linked Data

ClinVar Variation Id: 655578
dbSNP Id: rs763460099
gnomAD v2: 1-10403306-C-T
gnomAD v3: 1-10343248-C-T
gnomAD v4: 1-10343248-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.10343248C>T , CM000663.2:g.10343248C>T GRCh38
NC_000001.10:g.10403306C>T , CM000663.1:g.10403306C>T GRCh37
NC_000001.9:g.10325893C>T NCBI36
NG_008069.1:g.137543C>T , LRG_252:g.137543C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696502.1:c.3511C>T ENSP00000512668.1:p.Arg1171Cys
ENST00000696503.1:c.3574C>T ENSP00000512669.1:p.Arg1192Cys
ENST00000696504.1:c.3574C>T ENSP00000512670.1:p.Arg1192Cys
ENST00000676179.1:c.3649C>T MANE Select ENSP00000502065.1:p.Arg1217Cys
ENST00000263934.10:c.3511C>T ENSP00000263934.6:p.Arg1171Cys
ENST00000377081.5:c.3649C>T ENSP00000366284.1:p.Arg1217Cys
ENST00000377086.5:c.3649C>T ENSP00000366290.1:p.Arg1217Cys
ENST00000620295.2:c.3607C>T ENSP00000478500.1:p.Arg1203Cys
ENST00000622724.3:c.3571C>T ENSP00000480063.1:p.Arg1191Cys
NM_015074.3:c.3511C>T , LRG_252t1:c.3511C>T NP_055889.2:p.Arg1171Cys
NM_001365951.1:c.3649C>T NP_001352880.1:p.Arg1217Cys
NM_001365952.1:c.3649C>T NP_001352881.1:p.Arg1217Cys
NM_001365951.3:c.3649C>T MANE Select NP_001352880.1:p.Arg1217Cys