Canonical Allele Identifier: CA387298882

Gene: PUS1

Linked Data

• MyVariant Identifiers: chr12:g.132425940C>A (hg19) ; chr12:g.131941395C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941395C>A , CM000674.2:g.131941395C>A	GRCh38
NC_000012.11:g.132425940C>A , CM000674.1:g.132425940C>A	GRCh37
NC_000012.10:g.130991893C>A	NCBI36
NG_013039.1:g.17196C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.648C>A MANE Select	ENSP00000365837.3:p.Asp216Glu
ENST00000322060.9:c.564C>A	ENSP00000324726.5:p.Asp188Glu
ENST00000376649.7:c.648C>A	ENSP00000365837.3:p.Asp216Glu
ENST00000443358.6:c.564C>A	ENSP00000392451.2:p.Asp188Glu
ENST00000535067.5:c.358-2144C>A	ENSP00000443969.1:n.358-2144C>A
ENST00000537484.1:c.573C>A	ENSP00000440179.1:p.Asp191Glu
ENST00000542167.2:c.489C>A	ENSP00000438948.1:p.Asp163Glu
ENST00000543754.1:n.469C>A
NM_001002019.2:c.564C>A	NP_001002019.1:p.Asp188Glu
NM_001002020.2:c.564C>A	NP_001002020.1:p.Asp188Glu
NM_025215.5:c.648C>A	NP_079491.2:p.Asp216Glu
XM_011538768.1:c.249C>A	XP_011537070.1:p.Asp83Glu
XM_011538768.3:c.249C>A	XP_011537070.1:p.Asp83Glu
XR_001748872.1:n.1103C>A
NM_001002019.3:c.564C>A	NP_001002019.1:p.Asp188Glu
NM_001002020.3:c.564C>A	NP_001002020.1:p.Asp188Glu
NM_025215.6:c.648C>A MANE Select	NP_079491.2:p.Asp216Glu