Canonical Allele Identifier: CA482841639

Gene: PUS1

Linked Data

• MyVariant Identifiers: chr12:g.132425868C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941323C>G , CM000674.2:g.131941323C>G	GRCh38
NC_000012.11:g.132425868C>G , CM000674.1:g.132425868C>G	GRCh37
NC_000012.10:g.130991821C>G	NCBI36
NG_013039.1:g.17124C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.576C>G MANE Select	ENSP00000365837.3:p.Ser192=
ENST00000322060.9:c.492C>G	ENSP00000324726.5:p.Ser164=
ENST00000376649.7:c.576C>G	ENSP00000365837.3:p.Ser192=
ENST00000443358.6:c.492C>G	ENSP00000392451.2:p.Ser164=
ENST00000535067.5:c.358-2216C>G	ENSP00000443969.1:n.358-2216C>G
ENST00000537484.1:c.501C>G	ENSP00000440179.1:p.Ser167=
ENST00000542167.2:c.417C>G	ENSP00000438948.1:p.Ser139=
ENST00000543754.1:n.397C>G
NM_001002019.2:c.492C>G	NP_001002019.1:p.Ser164=
NM_001002020.2:c.492C>G	NP_001002020.1:p.Ser164=
NM_025215.5:c.576C>G	NP_079491.2:p.Ser192=
XM_011538768.1:c.177C>G	XP_011537070.1:p.Ser59=
XM_011538768.3:c.177C>G	XP_011537070.1:p.Ser59=
XR_001748872.1:n.1031C>G
NM_001002019.3:c.492C>G	NP_001002019.1:p.Ser164=
NM_001002020.3:c.492C>G	NP_001002020.1:p.Ser164=
NM_025215.6:c.576C>G MANE Select	NP_079491.2:p.Ser192=