Canonical Allele Identifier: CA482841674

Gene: PUS1

Linked Data

• gnomAD v4: 12-131941357-C-T
• MyVariant Identifiers: chr12:g.132425902C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941357C>T , CM000674.2:g.131941357C>T	GRCh38
NC_000012.11:g.132425902C>T , CM000674.1:g.132425902C>T	GRCh37
NC_000012.10:g.130991855C>T	NCBI36
NG_013039.1:g.17158C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.610C>T MANE Select	ENSP00000365837.3:p.Leu204=
ENST00000322060.9:c.526C>T	ENSP00000324726.5:p.Leu176=
ENST00000376649.7:c.610C>T	ENSP00000365837.3:p.Leu204=
ENST00000443358.6:c.526C>T	ENSP00000392451.2:p.Leu176=
ENST00000535067.5:c.358-2182C>T	ENSP00000443969.1:n.358-2182C>T
ENST00000537484.1:c.535C>T	ENSP00000440179.1:p.Leu179=
ENST00000542167.2:c.451C>T	ENSP00000438948.1:p.Leu151=
ENST00000543754.1:n.431C>T
NM_001002019.2:c.526C>T	NP_001002019.1:p.Leu176=
NM_001002020.2:c.526C>T	NP_001002020.1:p.Leu176=
NM_025215.5:c.610C>T	NP_079491.2:p.Leu204=
XM_011538768.1:c.211C>T	XP_011537070.1:p.Leu71=
XM_011538768.3:c.211C>T	XP_011537070.1:p.Leu71=
XR_001748872.1:n.1065C>T
NM_001002019.3:c.526C>T	NP_001002019.1:p.Leu176=
NM_001002020.3:c.526C>T	NP_001002020.1:p.Leu176=
NM_025215.6:c.610C>T MANE Select	NP_079491.2:p.Leu204=