Canonical Allele Identifier: CA338334706
Community Standard Title: NM_001365951.3(KIF1B):c.2448G>T (p.Glu816Asp)
Gene: KIF1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.10323973G>T , CM000663.2:g.10323973G>T GRCh38
NC_000001.10:g.10384031G>T , CM000663.1:g.10384031G>T GRCh37
NC_000001.9:g.10306618G>T NCBI36
NG_008069.1:g.118268G>T , LRG_252:g.118268G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001365951.3:c.2448G>T MANE Select NP_001352880.1:p.Glu816Asp
ENST00000676179.1:c.2448G>T MANE Select ENSP00000502065.1:p.Glu816Asp
NM_001365951.1:c.2448G>T NP_001352880.1:p.Glu816Asp
NM_001365952.1:c.2448G>T NP_001352881.1:p.Glu816Asp
NM_015074.3:c.2310G>T , LRG_252t1:c.2310G>T NP_055889.2:p.Glu770Asp
ENST00000263934.10:c.2310G>T ENSP00000263934.6:p.Glu770Asp
ENST00000377081.5:c.2448G>T ENSP00000366284.1:p.Glu816Asp
ENST00000377086.5:c.2448G>T ENSP00000366290.1:p.Glu816Asp
ENST00000620295.2:c.2406G>T ENSP00000478500.1:p.Glu802Asp
ENST00000622724.3:c.2370G>T ENSP00000480063.1:p.Glu790Asp
ENST00000696502.1:c.2310G>T ENSP00000512668.1:p.Glu770Asp
ENST00000696503.1:c.2373G>T ENSP00000512669.1:p.Glu791Asp
ENST00000696504.1:c.2373G>T ENSP00000512670.1:p.Glu791Asp