Canonical Allele Identifier: CA323956

Gene: PUS1

Linked Data

• ClinVar Variation Id: 215046
• ClinVar RCV Id: RCV000199413 ; RCV001828029
• dbSNP Id: rs755760215
• ExAC: 12:132426081 C / G
• gnomAD v2: 12-132426081-C-G
• gnomAD v3: 12-131941536-C-G
• gnomAD v4: 12-131941536-C-G
• MyVariant Identifiers: chr12:g.132426081C>G (hg19) ; chr12:g.131941536C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941536C>G , CM000674.2:g.131941536C>G	GRCh38
NC_000012.11:g.132426081C>G , CM000674.1:g.132426081C>G	GRCh37
NC_000012.10:g.130992034C>G	NCBI36
NG_013039.1:g.17337C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.789C>G MANE Select	ENSP00000365837.3:p.Ile263Met
ENST00000322060.9:c.705C>G	ENSP00000324726.5:p.Ile235Met
ENST00000376649.7:c.789C>G	ENSP00000365837.3:p.Ile263Met
ENST00000443358.6:c.705C>G	ENSP00000392451.2:p.Ile235Met
ENST00000535067.5:c.358-2003C>G	ENSP00000443969.1:n.358-2003C>G
ENST00000542167.2:c.630C>G	ENSP00000438948.1:p.Ile210Met
ENST00000543754.1:n.610C>G
NM_001002019.2:c.705C>G	NP_001002019.1:p.Ile235Met
NM_001002020.2:c.705C>G	NP_001002020.1:p.Ile235Met
NM_025215.5:c.789C>G	NP_079491.2:p.Ile263Met
XM_011538768.1:c.390C>G	XP_011537070.1:p.Ile130Met
XM_011538768.3:c.390C>G	XP_011537070.1:p.Ile130Met
XR_001748872.1:n.1244C>G
NM_001002019.3:c.705C>G	NP_001002019.1:p.Ile235Met
NM_001002020.3:c.705C>G	NP_001002020.1:p.Ile235Met
NM_025215.6:c.789C>G MANE Select	NP_079491.2:p.Ile263Met