Canonical Allele Identifier: CA246187215

Gene: PUS1

Linked Data

• dbSNP Id: rs986682392
• gnomAD v4: 12-131941478-A-G
• COSMIC: COSM430753
• MyVariant Identifiers: chr12:g.132426023A>G (hg19) ; chr12:g.131941478A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941478A>G , CM000674.2:g.131941478A>G	GRCh38
NC_000012.11:g.132426023A>G , CM000674.1:g.132426023A>G	GRCh37
NC_000012.10:g.130991976A>G	NCBI36
NG_013039.1:g.17279A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.731A>G MANE Select	ENSP00000365837.3:p.Asn244Ser
ENST00000322060.9:c.647A>G	ENSP00000324726.5:p.Asn216Ser
ENST00000376649.7:c.731A>G	ENSP00000365837.3:p.Asn244Ser
ENST00000443358.6:c.647A>G	ENSP00000392451.2:p.Asn216Ser
ENST00000535067.5:c.358-2061A>G	ENSP00000443969.1:n.358-2061A>G
ENST00000542167.2:c.572A>G	ENSP00000438948.1:p.Asn191Ser
ENST00000543754.1:n.552A>G
NM_001002019.2:c.647A>G	NP_001002019.1:p.Asn216Ser
NM_001002020.2:c.647A>G	NP_001002020.1:p.Asn216Ser
NM_025215.5:c.731A>G	NP_079491.2:p.Asn244Ser
XM_011538768.1:c.332A>G	XP_011537070.1:p.Asn111Ser
XM_011538768.3:c.332A>G	XP_011537070.1:p.Asn111Ser
XR_001748872.1:n.1186A>G
NM_001002019.3:c.647A>G	NP_001002019.1:p.Asn216Ser
NM_001002020.3:c.647A>G	NP_001002020.1:p.Asn216Ser
NM_025215.6:c.731A>G MANE Select	NP_079491.2:p.Asn244Ser