Canonical Allele Identifier: CA387298724

Gene: PUS1

Linked Data

• dbSNP Id: rs1487202874
• gnomAD v2: 12-132425867-C-G
• gnomAD v4: 12-131941322-C-G
• MyVariant Identifiers: chr12:g.132425867C>G (hg19) ; chr12:g.131941322C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941322C>G , CM000674.2:g.131941322C>G	GRCh38
NC_000012.11:g.132425867C>G , CM000674.1:g.132425867C>G	GRCh37
NC_000012.10:g.130991820C>G	NCBI36
NG_013039.1:g.17123C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.575C>G MANE Select	ENSP00000365837.3:p.Ser192Cys
ENST00000322060.9:c.491C>G	ENSP00000324726.5:p.Ser164Cys
ENST00000376649.7:c.575C>G	ENSP00000365837.3:p.Ser192Cys
ENST00000443358.6:c.491C>G	ENSP00000392451.2:p.Ser164Cys
ENST00000535067.5:c.358-2217C>G	ENSP00000443969.1:n.358-2217C>G
ENST00000537484.1:c.500C>G	ENSP00000440179.1:p.Ser167Cys
ENST00000542167.2:c.416C>G	ENSP00000438948.1:p.Ser139Cys
ENST00000543754.1:n.396C>G
NM_001002019.2:c.491C>G	NP_001002019.1:p.Ser164Cys
NM_001002020.2:c.491C>G	NP_001002020.1:p.Ser164Cys
NM_025215.5:c.575C>G	NP_079491.2:p.Ser192Cys
XM_011538768.1:c.176C>G	XP_011537070.1:p.Ser59Cys
XM_011538768.3:c.176C>G	XP_011537070.1:p.Ser59Cys
XR_001748872.1:n.1030C>G
NM_001002019.3:c.491C>G	NP_001002019.1:p.Ser164Cys
NM_001002020.3:c.491C>G	NP_001002020.1:p.Ser164Cys
NM_025215.6:c.575C>G MANE Select	NP_079491.2:p.Ser192Cys