Canonical Allele Identifier: CA582318
Community Standard Title: NM_001365951.3(KIF1B):c.5324G>A (p.Arg1775His)
Gene: KIF1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.10375289G>A , CM000663.2:g.10375289G>A GRCh38
NC_000001.10:g.10435347G>A , CM000663.1:g.10435347G>A GRCh37
NC_000001.9:g.10357934G>A NCBI36
NG_008069.1:g.169584G>A , LRG_252:g.169584G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001365951.3:c.5324G>A MANE Select NP_001352880.1:p.Arg1775His
ENST00000676179.1:c.5324G>A MANE Select ENSP00000502065.1:p.Arg1775His
NM_001365951.1:c.5324G>A NP_001352880.1:p.Arg1775His
NM_001365952.1:c.5324G>A NP_001352881.1:p.Arg1775His
NM_015074.3:c.5186G>A , LRG_252t1:c.5186G>A NP_055889.2:p.Arg1729His
ENST00000263934.10:c.5186G>A ENSP00000263934.6:p.Arg1729His
ENST00000377081.5:c.5324G>A ENSP00000366284.1:p.Arg1775His
ENST00000377086.5:c.5324G>A ENSP00000366290.1:p.Arg1775His
ENST00000620295.2:c.5282G>A ENSP00000478500.1:p.Arg1761His
ENST00000622724.3:c.5246G>A ENSP00000480063.1:p.Arg1749His
ENST00000635499.1:c.1369G>A
ENST00000696502.1:c.5387G>A ENSP00000512668.1:p.Arg1796His
ENST00000696503.1:c.5249G>A ENSP00000512669.1:p.Arg1750His
ENST00000696504.1:c.5249G>A ENSP00000512670.1:p.Arg1750His