Canonical Allele Identifier: CA482842044

Gene: PUS1

Linked Data

• ClinVar Variation Id: 2024718
• ClinVar RCV Id: RCV002847903
• MyVariant Identifiers: chr12:g.132425994G>A (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.702G>A MANE Select	ENSP00000365837.3:p.Arg234=
ENST00000322060.9:c.618G>A	ENSP00000324726.5:p.Arg206=
ENST00000376649.7:c.702G>A	ENSP00000365837.3:p.Arg234=
ENST00000443358.6:c.618G>A	ENSP00000392451.2:p.Arg206=
ENST00000535067.5:c.358-2090G>A	ENSP00000443969.1:n.358-2090G>A
ENST00000542167.2:c.543G>A	ENSP00000438948.1:p.Arg181=
ENST00000543754.1:n.523G>A
NM_001002019.2:c.618G>A	NP_001002019.1:p.Arg206=
NM_001002020.2:c.618G>A	NP_001002020.1:p.Arg206=
NM_025215.5:c.702G>A	NP_079491.2:p.Arg234=
XM_011538768.1:c.303G>A	XP_011537070.1:p.Arg101=
XM_011538768.3:c.303G>A	XP_011537070.1:p.Arg101=
XR_001748872.1:n.1157G>A
NM_001002019.3:c.618G>A	NP_001002019.1:p.Arg206=
NM_001002020.3:c.618G>A	NP_001002020.1:p.Arg206=
NM_025215.6:c.702G>A MANE Select	NP_079491.2:p.Arg234=