Canonical Allele Identifier: CA1259076712

Gene: GFPT1

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_001244710.2:c.331C= MANE Select	NP_001231639.1:p.Arg111=
ENST00000357308.9:c.331C= MANE Select	ENSP00000349860.4:p.Arg111=
NM_001244710.1:c.331C= , LRG_787t1:c.331C=	NP_001231639.1:p.Arg111=
NM_002056.3:c.331C=	NP_002047.2:p.Arg111=
NM_002056.4:c.331C=	NP_002047.2:p.Arg111=
ENST00000357308.8:c.331C=	ENSP00000349860.4:p.Arg111=
ENST00000361060.5:c.331C=	ENSP00000354347.4:p.Arg111=
ENST00000493759.2:n.30C=
ENST00000674438.1:c.115C=	ENSP00000501469.1:p.Arg39=
ENST00000674507.1:c.331C=	ENSP00000501332.1:p.Arg111=
XM_017003801.1:c.406C=	XP_016859290.1:p.Arg136=
XM_017003802.2:c.406C=	XP_016859291.1:p.Arg136=