Canonical Allele Identifier: CA49447041

Gene: GFPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.69329169C>A , CM000664.2:g.69329169C>A	GRCh38
NC_000002.11:g.69556301C>A , CM000664.1:g.69556301C>A	GRCh37
NC_000002.10:g.69409805C>A	NCBI36
NG_029542.1:g.63082G>T , LRG_787:g.63082G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001244710.2:c.1725+128G>T MANE Select	NP_001231639.1:n.1725+128G>T
ENST00000357308.9:c.1725+128G>T MANE Select	ENSP00000349860.4:n.1725+128G>T
NM_001244710.1:c.1725+128G>T , LRG_787t1:c.1725+128G>T	NP_001231639.1:n.1725+128G>T
NM_002056.3:c.1671+128G>T	NP_002047.2:n.1671+128G>T
NM_002056.4:c.1671+128G>T	NP_002047.2:n.1671+128G>T
ENST00000357308.8:c.1725+128G>T	ENSP00000349860.4:n.1725+128G>T
ENST00000361060.5:c.1671+128G>T	ENSP00000354347.4:n.1671+128G>T
ENST00000674438.1:c.1455+128G>T	ENSP00000501469.1:n.1455+128G>T
ENST00000674507.1:c.1671+128G>T	ENSP00000501332.1:n.1671+128G>T
XM_017003801.1:c.1800+128G>T	XP_016859290.1:n.1800+128G>T
XM_017003802.2:c.1746+128G>T	XP_016859291.1:n.1746+128G>T