Canonical Allele Identifier: CA338316952
Community Standard Title: NM_001365951.3(KIF1B):c.1958C>A (p.Pro653His)
Gene: KIF1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.10296993C>A , CM000663.2:g.10296993C>A GRCh38
NC_000001.10:g.10357051C>A , CM000663.1:g.10357051C>A GRCh37
NC_000001.9:g.10279638C>A NCBI36
NG_008069.1:g.91288C>A , LRG_252:g.91288C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001365951.3:c.1958C>A MANE Select NP_001352880.1:p.Pro653His
ENST00000676179.1:c.1958C>A MANE Select ENSP00000502065.1:p.Pro653His
NM_001365951.1:c.1958C>A NP_001352880.1:p.Pro653His
NM_001365952.1:c.1958C>A NP_001352881.1:p.Pro653His
NM_001365953.1:c.1820C>A NP_001352882.1:p.Pro607His
NM_015074.3:c.1820C>A , LRG_252t1:c.1820C>A NP_055889.2:p.Pro607His
NM_183416.3:c.1820C>A NP_904325.2:p.Pro607His
NM_183416.4:c.1820C>A NP_904325.2:p.Pro607His
ENST00000263934.10:c.1820C>A ENSP00000263934.6:p.Pro607His
ENST00000377081.5:c.1958C>A ENSP00000366284.1:p.Pro653His
ENST00000377083.5:c.1820C>A ENSP00000366287.1:p.Pro607His
ENST00000377086.5:c.1958C>A ENSP00000366290.1:p.Pro653His
ENST00000377093.8:c.1820C>A ENSP00000366297.4:p.Pro607His
ENST00000377093.9:c.1820C>A ENSP00000366297.4:p.Pro607His
ENST00000620295.2:c.1916C>A ENSP00000478500.1:p.Pro639His
ENST00000622724.3:c.1880C>A ENSP00000480063.1:p.Pro627His
ENST00000696500.1:c.*992C>A ENSP00000512666.1:n.*992C>A
ENST00000696502.1:c.1820C>A ENSP00000512668.1:p.Pro607His
ENST00000696503.1:c.1883C>A ENSP00000512669.1:p.Pro628His
ENST00000696504.1:c.1883C>A ENSP00000512670.1:p.Pro628His