Canonical Allele Identifier: CA582114
Community Standard Title: NM_001365951.3(KIF1B):c.4526G>A (p.Arg1509His)
Gene: KIF1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.10365422G>A , CM000663.2:g.10365422G>A GRCh38
NC_000001.10:g.10425480G>A , CM000663.1:g.10425480G>A GRCh37
NC_000001.9:g.10348067G>A NCBI36
NG_008069.1:g.159717G>A , LRG_252:g.159717G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001365951.3:c.4526G>A MANE Select NP_001352880.1:p.Arg1509His
ENST00000676179.1:c.4526G>A MANE Select ENSP00000502065.1:p.Arg1509His
NM_001365951.1:c.4526G>A NP_001352880.1:p.Arg1509His
NM_001365952.1:c.4526G>A NP_001352881.1:p.Arg1509His
NM_015074.3:c.4388G>A , LRG_252t1:c.4388G>A NP_055889.2:p.Arg1463His
ENST00000263934.10:c.4388G>A ENSP00000263934.6:p.Arg1463His
ENST00000377081.5:c.4526G>A ENSP00000366284.1:p.Arg1509His
ENST00000377086.5:c.4526G>A ENSP00000366290.1:p.Arg1509His
ENST00000470616.1:n.257G>A
ENST00000620295.2:c.4484G>A ENSP00000478500.1:p.Arg1495His
ENST00000622724.3:c.4448G>A ENSP00000480063.1:p.Arg1483His
ENST00000635499.1:c.571G>A
ENST00000696502.1:c.4589G>A ENSP00000512668.1:p.Arg1530His
ENST00000696503.1:c.4451G>A ENSP00000512669.1:p.Arg1484His
ENST00000696504.1:c.4451G>A ENSP00000512670.1:p.Arg1484His
XR_946953.1:n.355+959C>T
XR_946953.2:n.230+959C>T