Canonical Allele Identifier: CA581130
Community Standard Title: NM_001365951.3(KIF1B):c.1943C>A (p.Pro648His)
Gene: KIF1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.10296978C>A , CM000663.2:g.10296978C>A GRCh38
NC_000001.10:g.10357036C>A , CM000663.1:g.10357036C>A GRCh37
NC_000001.9:g.10279623C>A NCBI36
NG_008069.1:g.91273C>A , LRG_252:g.91273C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001365951.3:c.1943C>A MANE Select NP_001352880.1:p.Pro648His
ENST00000676179.1:c.1943C>A MANE Select ENSP00000502065.1:p.Pro648His
NM_001365951.1:c.1943C>A NP_001352880.1:p.Pro648His
NM_001365952.1:c.1943C>A NP_001352881.1:p.Pro648His
NM_001365953.1:c.1805C>A NP_001352882.1:p.Pro602His
NM_015074.3:c.1805C>A , LRG_252t1:c.1805C>A NP_055889.2:p.Pro602His
NM_183416.3:c.1805C>A NP_904325.2:p.Pro602His
NM_183416.4:c.1805C>A NP_904325.2:p.Pro602His
ENST00000263934.10:c.1805C>A ENSP00000263934.6:p.Pro602His
ENST00000377081.5:c.1943C>A ENSP00000366284.1:p.Pro648His
ENST00000377083.5:c.1805C>A ENSP00000366287.1:p.Pro602His
ENST00000377086.5:c.1943C>A ENSP00000366290.1:p.Pro648His
ENST00000377093.8:c.1805C>A ENSP00000366297.4:p.Pro602His
ENST00000377093.9:c.1805C>A ENSP00000366297.4:p.Pro602His
ENST00000620295.2:c.1901C>A ENSP00000478500.1:p.Pro634His
ENST00000622724.3:c.1865C>A ENSP00000480063.1:p.Pro622His
ENST00000696500.1:c.*977C>A ENSP00000512666.1:n.*977C>A
ENST00000696502.1:c.1805C>A ENSP00000512668.1:p.Pro602His
ENST00000696503.1:c.1868C>A ENSP00000512669.1:p.Pro623His
ENST00000696504.1:c.1868C>A ENSP00000512670.1:p.Pro623His