Canonical Allele Identifier: CA482841889

Gene: PUS1

Linked Data

• ClinVar Variation Id: 796207
• ClinVar RCV Id: RCV000979577
• dbSNP Id: rs1593296158
• MyVariant Identifiers: chr12:g.132425905C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941360C>T , CM000674.2:g.131941360C>T	GRCh38
NC_000012.11:g.132425905C>T , CM000674.1:g.132425905C>T	GRCh37
NC_000012.10:g.130991858C>T	NCBI36
NG_013039.1:g.17161C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.613C>T MANE Select	ENSP00000365837.3:p.Leu205=
ENST00000322060.9:c.529C>T	ENSP00000324726.5:p.Leu177=
ENST00000376649.7:c.613C>T	ENSP00000365837.3:p.Leu205=
ENST00000443358.6:c.529C>T	ENSP00000392451.2:p.Leu177=
ENST00000535067.5:c.358-2179C>T	ENSP00000443969.1:n.358-2179C>T
ENST00000537484.1:c.538C>T	ENSP00000440179.1:p.Leu180=
ENST00000542167.2:c.454C>T	ENSP00000438948.1:p.Leu152=
ENST00000543754.1:n.434C>T
NM_001002019.2:c.529C>T	NP_001002019.1:p.Leu177=
NM_001002020.2:c.529C>T	NP_001002020.1:p.Leu177=
NM_025215.5:c.613C>T	NP_079491.2:p.Leu205=
XM_011538768.1:c.214C>T	XP_011537070.1:p.Leu72=
XM_011538768.3:c.214C>T	XP_011537070.1:p.Leu72=
XR_001748872.1:n.1068C>T
NM_001002019.3:c.529C>T	NP_001002019.1:p.Leu177=
NM_001002020.3:c.529C>T	NP_001002020.1:p.Leu177=
NM_025215.6:c.613C>T MANE Select	NP_079491.2:p.Leu205=