Canonical Allele Identifier: CA387298795

Gene: PUS1

Linked Data

• MyVariant Identifiers: chr12:g.132425898C>G (hg19) ; chr12:g.131941353C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941353C>G , CM000674.2:g.131941353C>G	GRCh38
NC_000012.11:g.132425898C>G , CM000674.1:g.132425898C>G	GRCh37
NC_000012.10:g.130991851C>G	NCBI36
NG_013039.1:g.17154C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.606C>G MANE Select	ENSP00000365837.3:p.Cys202Trp
ENST00000322060.9:c.522C>G	ENSP00000324726.5:p.Cys174Trp
ENST00000376649.7:c.606C>G	ENSP00000365837.3:p.Cys202Trp
ENST00000443358.6:c.522C>G	ENSP00000392451.2:p.Cys174Trp
ENST00000535067.5:c.358-2186C>G	ENSP00000443969.1:n.358-2186C>G
ENST00000537484.1:c.531C>G	ENSP00000440179.1:p.Cys177Trp
ENST00000542167.2:c.447C>G	ENSP00000438948.1:p.Cys149Trp
ENST00000543754.1:n.427C>G
NM_001002019.2:c.522C>G	NP_001002019.1:p.Cys174Trp
NM_001002020.2:c.522C>G	NP_001002020.1:p.Cys174Trp
NM_025215.5:c.606C>G	NP_079491.2:p.Cys202Trp
XM_011538768.1:c.207C>G	XP_011537070.1:p.Cys69Trp
XM_011538768.3:c.207C>G	XP_011537070.1:p.Cys69Trp
XR_001748872.1:n.1061C>G
NM_001002019.3:c.522C>G	NP_001002019.1:p.Cys174Trp
NM_001002020.3:c.522C>G	NP_001002020.1:p.Cys174Trp
NM_025215.6:c.606C>G MANE Select	NP_079491.2:p.Cys202Trp