Canonical Allele Identifier: CA377487130

Gene: PTEN

Linked Data

• ClinVar Variation Id: 1774712
• ClinVar RCV Id: RCV002403036
• MyVariant Identifiers: chr10:g.89725060C>G (hg19) ; chr10:g.87965303C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87965303C>G , CM000672.2:g.87965303C>G	GRCh38
NC_000010.10:g.89725060C>G , CM000672.1:g.89725060C>G	GRCh37
NC_000010.9:g.89715040C>G	NCBI36
NG_007466.2:g.106865C>G , LRG_311:g.106865C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1136C>G	ENSP00000514759.2:p.Thr379Arg
ENST00000710265.1:c.*72C>G	ENSP00000518161.1:n.*72C>G
ENST00000688158.2:n.1778C>G
ENST00000688922.2:c.*873C>G	ENSP00000508742.2:n.*873C>G
ENST00000700021.1:c.998C>G	ENSP00000514757.1:p.Thr333Arg
ENST00000700022.1:c.*382C>G	ENSP00000514758.1:n.*382C>G
ENST00000700023.1:n.2201C>G
ENST00000700024.1:n.2435C>G
ENST00000706954.1:c.1043C>G	ENSP00000516674.1:p.Thr348Arg
ENST00000706955.1:c.*1078C>G	ENSP00000516675.1:n.*1078C>G
ENST00000686459.1:c.*629C>G	ENSP00000508909.1:n.*629C>G
ENST00000688158.1:c.*1154C>G	ENSP00000509254.1:n.*1154C>G
ENST00000688308.1:c.1043C>G	ENSP00000508752.1:p.Thr348Arg
ENST00000688922.1:c.964C>G
ENST00000693560.1:c.1562C>G	ENSP00000509861.1:p.Thr521Arg
ENST00000371953.8:c.1043C>G MANE Select	ENSP00000361021.3:p.Thr348Arg
ENST00000371953.7:c.1043C>G	ENSP00000361021.3:p.Thr348Arg
NM_000314.5:c.1043C>G	NP_000305.3:p.Thr348Arg
NM_000314.6:c.1043C>G	NP_000305.3:p.Thr348Arg
NM_001304717.2:c.1562C>G	NP_001291646.2:p.Thr521Arg
NM_001304718.1:c.452C>G	NP_001291647.1:p.Thr151Arg
XM_006717926.2:c.998C>G	XP_006717989.1:p.Thr333Arg
XM_011539982.1:c.947C>G	XP_011538284.1:p.Thr316Arg
XR_945791.1:n.1613C>G
NM_000314.7:c.1043C>G	NP_000305.3:p.Thr348Arg
NM_001304717.5:c.1562C>G	NP_001291646.4:p.Thr521Arg
NM_001304718.2:c.452C>G	NP_001291647.1:p.Thr151Arg
NM_000314.8:c.1043C>G MANE Select	NP_000305.3:p.Thr348Arg