Canonical Allele Identifier: CA6884212

Gene: PUS1

Linked Data

• dbSNP Id: rs763808149
• ExAC: 12:132425954 C / G
• gnomAD v2: 12-132425954-C-G
• gnomAD v4: 12-131941409-C-G
• MyVariant Identifiers: chr12:g.132425954C>G (hg19) ; chr12:g.131941409C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941409C>G , CM000674.2:g.131941409C>G	GRCh38
NC_000012.11:g.132425954C>G , CM000674.1:g.132425954C>G	GRCh37
NC_000012.10:g.130991907C>G	NCBI36
NG_013039.1:g.17210C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.662C>G MANE Select	ENSP00000365837.3:p.Thr221Ser
ENST00000322060.9:c.578C>G	ENSP00000324726.5:p.Thr193Ser
ENST00000376649.7:c.662C>G	ENSP00000365837.3:p.Thr221Ser
ENST00000443358.6:c.578C>G	ENSP00000392451.2:p.Thr193Ser
ENST00000535067.5:c.358-2130C>G	ENSP00000443969.1:n.358-2130C>G
ENST00000537484.1:c.587C>G	ENSP00000440179.1:p.Thr196Ser
ENST00000542167.2:c.503C>G	ENSP00000438948.1:p.Thr168Ser
ENST00000543754.1:n.483C>G
NM_001002019.2:c.578C>G	NP_001002019.1:p.Thr193Ser
NM_001002020.2:c.578C>G	NP_001002020.1:p.Thr193Ser
NM_025215.5:c.662C>G	NP_079491.2:p.Thr221Ser
XM_011538768.1:c.263C>G	XP_011537070.1:p.Thr88Ser
XM_011538768.3:c.263C>G	XP_011537070.1:p.Thr88Ser
XR_001748872.1:n.1117C>G
NM_001002019.3:c.578C>G	NP_001002019.1:p.Thr193Ser
NM_001002020.3:c.578C>G	NP_001002020.1:p.Thr193Ser
NM_025215.6:c.662C>G MANE Select	NP_079491.2:p.Thr221Ser