Canonical Allele Identifier: CA6884209

Gene: PUS1

Linked Data

• ClinVar Variation Id: 806965
• ClinVar RCV Id: RCV000995006
• dbSNP Id: rs528150799
• ExAC: 12:132425939 A / G
• gnomAD v2: 12-132425939-A-G
• gnomAD v3: 12-131941394-A-G
• gnomAD v4: 12-131941394-A-G
• MyVariant Identifiers: chr12:g.132425939A>G (hg19) ; chr12:g.131941394A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941394A>G , CM000674.2:g.131941394A>G	GRCh38
NC_000012.11:g.132425939A>G , CM000674.1:g.132425939A>G	GRCh37
NC_000012.10:g.130991892A>G	NCBI36
NG_013039.1:g.17195A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.647A>G MANE Select	ENSP00000365837.3:p.Asp216Gly
ENST00000322060.9:c.563A>G	ENSP00000324726.5:p.Asp188Gly
ENST00000376649.7:c.647A>G	ENSP00000365837.3:p.Asp216Gly
ENST00000443358.6:c.563A>G	ENSP00000392451.2:p.Asp188Gly
ENST00000535067.5:c.358-2145A>G	ENSP00000443969.1:n.358-2145A>G
ENST00000537484.1:c.572A>G	ENSP00000440179.1:p.Asp191Gly
ENST00000542167.2:c.488A>G	ENSP00000438948.1:p.Asp163Gly
ENST00000543754.1:n.468A>G
NM_001002019.2:c.563A>G	NP_001002019.1:p.Asp188Gly
NM_001002020.2:c.563A>G	NP_001002020.1:p.Asp188Gly
NM_025215.5:c.647A>G	NP_079491.2:p.Asp216Gly
XM_011538768.1:c.248A>G	XP_011537070.1:p.Asp83Gly
XM_011538768.3:c.248A>G	XP_011537070.1:p.Asp83Gly
XR_001748872.1:n.1102A>G
NM_001002019.3:c.563A>G	NP_001002019.1:p.Asp188Gly
NM_001002020.3:c.563A>G	NP_001002020.1:p.Asp188Gly
NM_025215.6:c.647A>G MANE Select	NP_079491.2:p.Asp216Gly