Canonical Allele Identifier: CA581528
Community Standard Title: NM_001365951.3(KIF1B):c.2459T>G (p.Phe820Cys)
Gene: KIF1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.10323984T>G , CM000663.2:g.10323984T>G GRCh38
NC_000001.10:g.10384042T>G , CM000663.1:g.10384042T>G GRCh37
NC_000001.9:g.10306629T>G NCBI36
NG_008069.1:g.118279T>G , LRG_252:g.118279T>G

Transcript Alleles

HGVS Amino-acid Change
NM_001365951.3:c.2459T>G MANE Select NP_001352880.1:p.Phe820Cys
ENST00000676179.1:c.2459T>G MANE Select ENSP00000502065.1:p.Phe820Cys
NM_001365951.1:c.2459T>G NP_001352880.1:p.Phe820Cys
NM_001365952.1:c.2459T>G NP_001352881.1:p.Phe820Cys
NM_015074.3:c.2321T>G , LRG_252t1:c.2321T>G NP_055889.2:p.Phe774Cys
ENST00000263934.10:c.2321T>G ENSP00000263934.6:p.Phe774Cys
ENST00000377081.5:c.2459T>G ENSP00000366284.1:p.Phe820Cys
ENST00000377086.5:c.2459T>G ENSP00000366290.1:p.Phe820Cys
ENST00000620295.2:c.2417T>G ENSP00000478500.1:p.Phe806Cys
ENST00000622724.3:c.2381T>G ENSP00000480063.1:p.Phe794Cys
ENST00000696502.1:c.2321T>G ENSP00000512668.1:p.Phe774Cys
ENST00000696503.1:c.2384T>G ENSP00000512669.1:p.Phe795Cys
ENST00000696504.1:c.2384T>G ENSP00000512670.1:p.Phe795Cys