Canonical Allele Identifier: CA6884386

Gene: PUS1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131943568G>A , CM000674.2:g.131943568G>A	GRCh38
NC_000012.11:g.132428113G>A , CM000674.1:g.132428113G>A	GRCh37
NC_000012.10:g.130994066G>A	NCBI36
NG_013039.1:g.19369G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.1266G>A MANE Select	ENSP00000365837.3:p.Gly422=
ENST00000376649.7:c.1266G>A	ENSP00000365837.3:p.Gly422=
ENST00000443358.6:c.1182G>A	ENSP00000392451.2:p.Gly394=
ENST00000535067.5:c.387G>A	ENSP00000443969.1:p.Gly129=
ENST00000542167.2:c.1107G>A	ENSP00000438948.1:p.Gly369=
ENST00000543754.1:n.1087G>A
NM_001002019.2:c.1182G>A	NP_001002019.1:p.Gly394=
NM_001002020.2:c.1182G>A	NP_001002020.1:p.Gly394=
NM_025215.5:c.1266G>A	NP_079491.2:p.Gly422=
XM_011538768.1:c.867G>A	XP_011537070.1:p.Gly289=
XM_011538768.3:c.867G>A	XP_011537070.1:p.Gly289=
XR_001748872.1:n.1721G>A
NM_001002019.3:c.1182G>A	NP_001002019.1:p.Gly394=
NM_001002020.3:c.1182G>A	NP_001002020.1:p.Gly394=
NM_025215.6:c.1266G>A MANE Select	NP_079491.2:p.Gly422=