Canonical Allele Identifier: CA246187182

Gene: PUS1

Linked Data

• ClinVar Variation Id: 1629577
• ClinVar RCV Id: RCV002118408
• dbSNP Id: rs1023565853
• gnomAD v4: 12-131941447-A-C
• MyVariant Identifiers: chr12:g.132425992A>C (hg19) ; chr12:g.131941447A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941447A>C , CM000674.2:g.131941447A>C	GRCh38
NC_000012.11:g.132425992A>C , CM000674.1:g.132425992A>C	GRCh37
NC_000012.10:g.130991945A>C	NCBI36
NG_013039.1:g.17248A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.700A>C MANE Select	ENSP00000365837.3:p.Arg234=
ENST00000322060.9:c.616A>C	ENSP00000324726.5:p.Arg206=
ENST00000376649.7:c.700A>C	ENSP00000365837.3:p.Arg234=
ENST00000443358.6:c.616A>C	ENSP00000392451.2:p.Arg206=
ENST00000535067.5:c.358-2092A>C	ENSP00000443969.1:n.358-2092A>C
ENST00000542167.2:c.541A>C	ENSP00000438948.1:p.Arg181=
ENST00000543754.1:n.521A>C
NM_001002019.2:c.616A>C	NP_001002019.1:p.Arg206=
NM_001002020.2:c.616A>C	NP_001002020.1:p.Arg206=
NM_025215.5:c.700A>C	NP_079491.2:p.Arg234=
XM_011538768.1:c.301A>C	XP_011537070.1:p.Arg101=
XM_011538768.3:c.301A>C	XP_011537070.1:p.Arg101=
XR_001748872.1:n.1155A>C
NM_001002019.3:c.616A>C	NP_001002019.1:p.Arg206=
NM_001002020.3:c.616A>C	NP_001002020.1:p.Arg206=
NM_025215.6:c.700A>C MANE Select	NP_079491.2:p.Arg234=