Canonical Allele Identifier: CA482842214

Gene: PUS1

Linked Data

• dbSNP Id: rs1255693238
• gnomAD v2: 12-132426084-G-A
• gnomAD v3: 12-131941539-G-A
• gnomAD v4: 12-131941539-G-A
• MyVariant Identifiers: chr12:g.132426084G>A (hg19) ; chr12:g.131941539G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941539G>A , CM000674.2:g.131941539G>A	GRCh38
NC_000012.11:g.132426084G>A , CM000674.1:g.132426084G>A	GRCh37
NC_000012.10:g.130992037G>A	NCBI36
NG_013039.1:g.17340G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000376649.8:c.792G>A MANE Select	ENSP00000365837.3:p.Leu264=
ENST00000322060.9:c.708G>A	ENSP00000324726.5:p.Leu236=
ENST00000376649.7:c.792G>A	ENSP00000365837.3:p.Leu264=
ENST00000443358.6:c.708G>A	ENSP00000392451.2:p.Leu236=
ENST00000535067.5:c.358-2000G>A	ENSP00000443969.1:n.358-2000G>A
ENST00000542167.2:c.633G>A	ENSP00000438948.1:p.Leu211=
ENST00000543754.1:n.613G>A
NM_001002019.2:c.708G>A	NP_001002019.1:p.Leu236=
NM_001002020.2:c.708G>A	NP_001002020.1:p.Leu236=
NM_025215.5:c.792G>A	NP_079491.2:p.Leu264=
XM_011538768.1:c.393G>A	XP_011537070.1:p.Leu131=
XM_011538768.3:c.393G>A	XP_011537070.1:p.Leu131=
XR_001748872.1:n.1247G>A
NM_001002019.3:c.708G>A	NP_001002019.1:p.Leu236=
NM_001002020.3:c.708G>A	NP_001002020.1:p.Leu236=
NM_025215.6:c.792G>A MANE Select	NP_079491.2:p.Leu264=