Canonical Allele Identifier: CA482841927

Gene: PUS1

Linked Data

• ClinVar Variation Id: 2879625
• ClinVar RCV Id: RCV003710849
• MyVariant Identifiers: chr12:g.132425928C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941383C>T , CM000674.2:g.131941383C>T	GRCh38
NC_000012.11:g.132425928C>T , CM000674.1:g.132425928C>T	GRCh37
NC_000012.10:g.130991881C>T	NCBI36
NG_013039.1:g.17184C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.636C>T MANE Select	ENSP00000365837.3:p.His212=
ENST00000322060.9:c.552C>T	ENSP00000324726.5:p.His184=
ENST00000376649.7:c.636C>T	ENSP00000365837.3:p.His212=
ENST00000443358.6:c.552C>T	ENSP00000392451.2:p.His184=
ENST00000535067.5:c.358-2156C>T	ENSP00000443969.1:n.358-2156C>T
ENST00000537484.1:c.561C>T	ENSP00000440179.1:p.His187=
ENST00000542167.2:c.477C>T	ENSP00000438948.1:p.His159=
ENST00000543754.1:n.457C>T
NM_001002019.2:c.552C>T	NP_001002019.1:p.His184=
NM_001002020.2:c.552C>T	NP_001002020.1:p.His184=
NM_025215.5:c.636C>T	NP_079491.2:p.His212=
XM_011538768.1:c.237C>T	XP_011537070.1:p.His79=
XM_011538768.3:c.237C>T	XP_011537070.1:p.His79=
XR_001748872.1:n.1091C>T
NM_001002019.3:c.552C>T	NP_001002019.1:p.His184=
NM_001002020.3:c.552C>T	NP_001002020.1:p.His184=
NM_025215.6:c.636C>T MANE Select	NP_079491.2:p.His212=