Canonical Allele Identifier: CA128605

Gene: GFPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.69363563G>A , CM000664.2:g.69363563G>A	GRCh38
NC_000002.11:g.69590695G>A , CM000664.1:g.69590695G>A	GRCh37
NC_000002.10:g.69444199G>A	NCBI36
NG_029542.1:g.28688C>T , LRG_787:g.28688C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001244710.2:c.331C>T MANE Select	NP_001231639.1:p.Arg111Cys
ENST00000357308.9:c.331C>T MANE Select	ENSP00000349860.4:p.Arg111Cys
NM_001244710.1:c.331C>T , LRG_787t1:c.331C>T	NP_001231639.1:p.Arg111Cys
NM_002056.3:c.331C>T	NP_002047.2:p.Arg111Cys
NM_002056.4:c.331C>T	NP_002047.2:p.Arg111Cys
ENST00000357308.8:c.331C>T	ENSP00000349860.4:p.Arg111Cys
ENST00000361060.5:c.331C>T	ENSP00000354347.4:p.Arg111Cys
ENST00000493759.2:n.30C>T
ENST00000674438.1:c.115C>T	ENSP00000501469.1:p.Arg39Cys
ENST00000674507.1:c.331C>T	ENSP00000501332.1:p.Arg111Cys
XM_017003801.1:c.406C>T	XP_016859290.1:p.Arg136Cys
XM_017003802.2:c.406C>T	XP_016859291.1:p.Arg136Cys