Canonical Allele Identifier: CA6884204

Gene: PUS1

Linked Data

• ClinVar Variation Id: 1586790
• ClinVar RCV Id: RCV002100663
• dbSNP Id: rs779282199
• ExAC: 12:132425925 G / A
• gnomAD v2: 12-132425925-G-A
• gnomAD v3: 12-131941380-G-A
• gnomAD v4: 12-131941380-G-A
• COSMIC: COSM5361971
• MyVariant Identifiers: chr12:g.132425925G>A (hg19) ; chr12:g.131941380G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941380G>A , CM000674.2:g.131941380G>A	GRCh38
NC_000012.11:g.132425925G>A , CM000674.1:g.132425925G>A	GRCh37
NC_000012.10:g.130991878G>A	NCBI36
NG_013039.1:g.17181G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.633G>A MANE Select	ENSP00000365837.3:p.Ala211=
ENST00000322060.9:c.549G>A	ENSP00000324726.5:p.Ala183=
ENST00000376649.7:c.633G>A	ENSP00000365837.3:p.Ala211=
ENST00000443358.6:c.549G>A	ENSP00000392451.2:p.Ala183=
ENST00000535067.5:c.358-2159G>A	ENSP00000443969.1:n.358-2159G>A
ENST00000537484.1:c.558G>A	ENSP00000440179.1:p.Ala186=
ENST00000542167.2:c.474G>A	ENSP00000438948.1:p.Ala158=
ENST00000543754.1:n.454G>A
NM_001002019.2:c.549G>A	NP_001002019.1:p.Ala183=
NM_001002020.2:c.549G>A	NP_001002020.1:p.Ala183=
NM_025215.5:c.633G>A	NP_079491.2:p.Ala211=
XM_011538768.1:c.234G>A	XP_011537070.1:p.Ala78=
XM_011538768.3:c.234G>A	XP_011537070.1:p.Ala78=
XR_001748872.1:n.1088G>A
NM_001002019.3:c.549G>A	NP_001002019.1:p.Ala183=
NM_001002020.3:c.549G>A	NP_001002020.1:p.Ala183=
NM_025215.6:c.633G>A MANE Select	NP_079491.2:p.Ala211=