Canonical Allele Identifier: CA387298905

Gene: PUS1

Linked Data

• gnomAD v4: 12-131941405-G-A
• MyVariant Identifiers: chr12:g.132425950G>A (hg19) ; chr12:g.131941405G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941405G>A , CM000674.2:g.131941405G>A	GRCh38
NC_000012.11:g.132425950G>A , CM000674.1:g.132425950G>A	GRCh37
NC_000012.10:g.130991903G>A	NCBI36
NG_013039.1:g.17206G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.658G>A MANE Select	ENSP00000365837.3:p.Glu220Lys
ENST00000322060.9:c.574G>A	ENSP00000324726.5:p.Glu192Lys
ENST00000376649.7:c.658G>A	ENSP00000365837.3:p.Glu220Lys
ENST00000443358.6:c.574G>A	ENSP00000392451.2:p.Glu192Lys
ENST00000535067.5:c.358-2134G>A	ENSP00000443969.1:n.358-2134G>A
ENST00000537484.1:c.583G>A	ENSP00000440179.1:p.Glu195Lys
ENST00000542167.2:c.499G>A	ENSP00000438948.1:p.Glu167Lys
ENST00000543754.1:n.479G>A
NM_001002019.2:c.574G>A	NP_001002019.1:p.Glu192Lys
NM_001002020.2:c.574G>A	NP_001002020.1:p.Glu192Lys
NM_025215.5:c.658G>A	NP_079491.2:p.Glu220Lys
XM_011538768.1:c.259G>A	XP_011537070.1:p.Glu87Lys
XM_011538768.3:c.259G>A	XP_011537070.1:p.Glu87Lys
XR_001748872.1:n.1113G>A
NM_001002019.3:c.574G>A	NP_001002019.1:p.Glu192Lys
NM_001002020.3:c.574G>A	NP_001002020.1:p.Glu192Lys
NM_025215.6:c.658G>A MANE Select	NP_079491.2:p.Glu220Lys