Canonical Allele Identifier: CA6884225

Gene: PUS1

Linked Data

• ClinVar Variation Id: 1918811
• ClinVar RCV Id: RCV002602167
• dbSNP Id: rs780957532
• ExAC: 12:132425994 G / C
• gnomAD v2: 12-132425994-G-C
• gnomAD v3: 12-131941449-G-C
• gnomAD v4: 12-131941449-G-C
• MyVariant Identifiers: chr12:g.132425994G>C (hg19) ; chr12:g.131941449G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941449G>C , CM000674.2:g.131941449G>C	GRCh38
NC_000012.11:g.132425994G>C , CM000674.1:g.132425994G>C	GRCh37
NC_000012.10:g.130991947G>C	NCBI36
NG_013039.1:g.17250G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.702G>C MANE Select	ENSP00000365837.3:p.Arg234Ser
ENST00000322060.9:c.618G>C	ENSP00000324726.5:p.Arg206Ser
ENST00000376649.7:c.702G>C	ENSP00000365837.3:p.Arg234Ser
ENST00000443358.6:c.618G>C	ENSP00000392451.2:p.Arg206Ser
ENST00000535067.5:c.358-2090G>C	ENSP00000443969.1:n.358-2090G>C
ENST00000542167.2:c.543G>C	ENSP00000438948.1:p.Arg181Ser
ENST00000543754.1:n.523G>C
NM_001002019.2:c.618G>C	NP_001002019.1:p.Arg206Ser
NM_001002020.2:c.618G>C	NP_001002020.1:p.Arg206Ser
NM_025215.5:c.702G>C	NP_079491.2:p.Arg234Ser
XM_011538768.1:c.303G>C	XP_011537070.1:p.Arg101Ser
XM_011538768.3:c.303G>C	XP_011537070.1:p.Arg101Ser
XR_001748872.1:n.1157G>C
NM_001002019.3:c.618G>C	NP_001002019.1:p.Arg206Ser
NM_001002020.3:c.618G>C	NP_001002020.1:p.Arg206Ser
NM_025215.6:c.702G>C MANE Select	NP_079491.2:p.Arg234Ser