Canonical Allele Identifier: CA387299167

Gene: PUS1

Linked Data

• gnomAD v4: 12-131941528-C-G
• MyVariant Identifiers: chr12:g.132426073C>G (hg19) ; chr12:g.131941528C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941528C>G , CM000674.2:g.131941528C>G	GRCh38
NC_000012.11:g.132426073C>G , CM000674.1:g.132426073C>G	GRCh37
NC_000012.10:g.130992026C>G	NCBI36
NG_013039.1:g.17329C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.781C>G MANE Select	ENSP00000365837.3:p.Arg261Gly
ENST00000322060.9:c.697C>G	ENSP00000324726.5:p.Arg233Gly
ENST00000376649.7:c.781C>G	ENSP00000365837.3:p.Arg261Gly
ENST00000443358.6:c.697C>G	ENSP00000392451.2:p.Arg233Gly
ENST00000535067.5:c.358-2011C>G	ENSP00000443969.1:n.358-2011C>G
ENST00000542167.2:c.622C>G	ENSP00000438948.1:p.Arg208Gly
ENST00000543754.1:n.602C>G
NM_001002019.2:c.697C>G	NP_001002019.1:p.Arg233Gly
NM_001002020.2:c.697C>G	NP_001002020.1:p.Arg233Gly
NM_025215.5:c.781C>G	NP_079491.2:p.Arg261Gly
XM_011538768.1:c.382C>G	XP_011537070.1:p.Arg128Gly
XM_011538768.3:c.382C>G	XP_011537070.1:p.Arg128Gly
XR_001748872.1:n.1236C>G
NM_001002019.3:c.697C>G	NP_001002019.1:p.Arg233Gly
NM_001002020.3:c.697C>G	NP_001002020.1:p.Arg233Gly
NM_025215.6:c.781C>G MANE Select	NP_079491.2:p.Arg261Gly