Canonical Allele Identifier: CA338340906
Gene: KIF1B HGNC NCBI

Linked Data

dbSNP Id: rs777585476
gnomAD v2: 1-10399835-A-T
gnomAD v4: 1-10339777-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.10339777A>T , CM000663.2:g.10339777A>T GRCh38
NC_000001.10:g.10399835A>T , CM000663.1:g.10399835A>T GRCh37
NC_000001.9:g.10322422A>T NCBI36
NG_008069.1:g.134072A>T , LRG_252:g.134072A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696502.1:c.3293A>T ENSP00000512668.1:p.His1098Leu
ENST00000696503.1:c.3356A>T ENSP00000512669.1:p.His1119Leu
ENST00000696504.1:c.3356A>T ENSP00000512670.1:p.His1119Leu
ENST00000676179.1:c.3431A>T MANE Select ENSP00000502065.1:p.His1144Leu
ENST00000263934.10:c.3293A>T ENSP00000263934.6:p.His1098Leu
ENST00000377081.5:c.3431A>T ENSP00000366284.1:p.His1144Leu
ENST00000377086.5:c.3431A>T ENSP00000366290.1:p.His1144Leu
ENST00000620295.2:c.3389A>T ENSP00000478500.1:p.His1130Leu
ENST00000622724.3:c.3353A>T ENSP00000480063.1:p.His1118Leu
NM_015074.3:c.3293A>T , LRG_252t1:c.3293A>T NP_055889.2:p.His1098Leu
NM_001365951.1:c.3431A>T NP_001352880.1:p.His1144Leu
NM_001365952.1:c.3431A>T NP_001352881.1:p.His1144Leu
NM_001365951.3:c.3431A>T MANE Select NP_001352880.1:p.His1144Leu