Canonical Allele Identifier: CA387298805

Gene: PUS1

Linked Data

• dbSNP Id: rs1299156014
• gnomAD v2: 12-132425902-C-G
• gnomAD v4: 12-131941357-C-G
• MyVariant Identifiers: chr12:g.132425902C>G (hg19) ; chr12:g.131941357C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941357C>G , CM000674.2:g.131941357C>G	GRCh38
NC_000012.11:g.132425902C>G , CM000674.1:g.132425902C>G	GRCh37
NC_000012.10:g.130991855C>G	NCBI36
NG_013039.1:g.17158C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.610C>G MANE Select	ENSP00000365837.3:p.Leu204Val
ENST00000322060.9:c.526C>G	ENSP00000324726.5:p.Leu176Val
ENST00000376649.7:c.610C>G	ENSP00000365837.3:p.Leu204Val
ENST00000443358.6:c.526C>G	ENSP00000392451.2:p.Leu176Val
ENST00000535067.5:c.358-2182C>G	ENSP00000443969.1:n.358-2182C>G
ENST00000537484.1:c.535C>G	ENSP00000440179.1:p.Leu179Val
ENST00000542167.2:c.451C>G	ENSP00000438948.1:p.Leu151Val
ENST00000543754.1:n.431C>G
NM_001002019.2:c.526C>G	NP_001002019.1:p.Leu176Val
NM_001002020.2:c.526C>G	NP_001002020.1:p.Leu176Val
NM_025215.5:c.610C>G	NP_079491.2:p.Leu204Val
XM_011538768.1:c.211C>G	XP_011537070.1:p.Leu71Val
XM_011538768.3:c.211C>G	XP_011537070.1:p.Leu71Val
XR_001748872.1:n.1065C>G
NM_001002019.3:c.526C>G	NP_001002019.1:p.Leu176Val
NM_001002020.3:c.526C>G	NP_001002020.1:p.Leu176Val
NM_025215.6:c.610C>G MANE Select	NP_079491.2:p.Leu204Val