Canonical Allele Identifier: CA387298701

Gene: PUS1

Linked Data

• MyVariant Identifiers: chr12:g.132425858G>A (hg19) ; chr12:g.131941313G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941313G>A , CM000674.2:g.131941313G>A	GRCh38
NC_000012.11:g.132425858G>A , CM000674.1:g.132425858G>A	GRCh37
NC_000012.10:g.130991811G>A	NCBI36
NG_013039.1:g.17114G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.566G>A MANE Select	ENSP00000365837.3:p.Gly189Glu
ENST00000322060.9:c.482G>A	ENSP00000324726.5:p.Gly161Glu
ENST00000376649.7:c.566G>A	ENSP00000365837.3:p.Gly189Glu
ENST00000443358.6:c.482G>A	ENSP00000392451.2:p.Gly161Glu
ENST00000535067.5:c.358-2226G>A	ENSP00000443969.1:n.358-2226G>A
ENST00000537484.1:c.491G>A	ENSP00000440179.1:p.Gly164Glu
ENST00000542167.2:c.407G>A	ENSP00000438948.1:p.Gly136Glu
ENST00000543754.1:n.387G>A
NM_001002019.2:c.482G>A	NP_001002019.1:p.Gly161Glu
NM_001002020.2:c.482G>A	NP_001002020.1:p.Gly161Glu
NM_025215.5:c.566G>A	NP_079491.2:p.Gly189Glu
XM_011538768.1:c.167G>A	XP_011537070.1:p.Gly56Glu
XM_011538768.3:c.167G>A	XP_011537070.1:p.Gly56Glu
XR_001748872.1:n.1021G>A
NM_001002019.3:c.482G>A	NP_001002019.1:p.Gly161Glu
NM_001002020.3:c.482G>A	NP_001002020.1:p.Gly161Glu
NM_025215.6:c.566G>A MANE Select	NP_079491.2:p.Gly189Glu