Canonical Allele Identifier: CA387299143

Gene: PUS1

Linked Data

• gnomAD v4: 12-131941517-C-A
• MyVariant Identifiers: chr12:g.132426062C>A (hg19) ; chr12:g.131941517C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941517C>A , CM000674.2:g.131941517C>A	GRCh38
NC_000012.11:g.132426062C>A , CM000674.1:g.132426062C>A	GRCh37
NC_000012.10:g.130992015C>A	NCBI36
NG_013039.1:g.17318C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.770C>A MANE Select	ENSP00000365837.3:p.Pro257His
ENST00000322060.9:c.686C>A	ENSP00000324726.5:p.Pro229His
ENST00000376649.7:c.770C>A	ENSP00000365837.3:p.Pro257His
ENST00000443358.6:c.686C>A	ENSP00000392451.2:p.Pro229His
ENST00000535067.5:c.358-2022C>A	ENSP00000443969.1:n.358-2022C>A
ENST00000542167.2:c.611C>A	ENSP00000438948.1:p.Pro204His
ENST00000543754.1:n.591C>A
NM_001002019.2:c.686C>A	NP_001002019.1:p.Pro229His
NM_001002020.2:c.686C>A	NP_001002020.1:p.Pro229His
NM_025215.5:c.770C>A	NP_079491.2:p.Pro257His
XM_011538768.1:c.371C>A	XP_011537070.1:p.Pro124His
XM_011538768.3:c.371C>A	XP_011537070.1:p.Pro124His
XR_001748872.1:n.1225C>A
NM_001002019.3:c.686C>A	NP_001002019.1:p.Pro229His
NM_001002020.3:c.686C>A	NP_001002020.1:p.Pro229His
NM_025215.6:c.770C>A MANE Select	NP_079491.2:p.Pro257His