Canonical Allele Identifier: CA387298676

Gene: PUS1

Linked Data

• ClinVar Variation Id: 1311588
• ClinVar RCV Id: RCV001752571
• dbSNP Id: rs1891051855
• gnomAD v3: 12-131941298-A-G
• gnomAD v4: 12-131941298-A-G
• MyVariant Identifiers: chr12:g.132425843A>G (hg19) ; chr12:g.131941298A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941298A>G , CM000674.2:g.131941298A>G	GRCh38
NC_000012.11:g.132425843A>G , CM000674.1:g.132425843A>G	GRCh37
NC_000012.10:g.130991796A>G	NCBI36
NG_013039.1:g.17099A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.551A>G MANE Select	ENSP00000365837.3:p.Lys184Arg
ENST00000322060.9:c.467A>G	ENSP00000324726.5:p.Lys156Arg
ENST00000376649.7:c.551A>G	ENSP00000365837.3:p.Lys184Arg
ENST00000443358.6:c.467A>G	ENSP00000392451.2:p.Lys156Arg
ENST00000535067.5:c.358-2241A>G	ENSP00000443969.1:n.358-2241A>G
ENST00000537484.1:c.476A>G	ENSP00000440179.1:p.Lys159Arg
ENST00000542167.2:c.392A>G	ENSP00000438948.1:p.Lys131Arg
ENST00000543754.1:n.372A>G
NM_001002019.2:c.467A>G	NP_001002019.1:p.Lys156Arg
NM_001002020.2:c.467A>G	NP_001002020.1:p.Lys156Arg
NM_025215.5:c.551A>G	NP_079491.2:p.Lys184Arg
XM_011538768.1:c.152A>G	XP_011537070.1:p.Lys51Arg
XM_011538768.3:c.152A>G	XP_011537070.1:p.Lys51Arg
XR_001748872.1:n.1006A>G
NM_001002019.3:c.467A>G	NP_001002019.1:p.Lys156Arg
NM_001002020.3:c.467A>G	NP_001002020.1:p.Lys156Arg
NM_025215.6:c.551A>G MANE Select	NP_079491.2:p.Lys184Arg