Canonical Allele Identifier: CA000460

Gene: PTEN

Linked Data

• ClinVar Variation Id: 189489
• ClinVar RCV Id: RCV000491120 ; RCV001202091 ; RCV003454442
• dbSNP Id: rs786204934
• COSMIC: COSM921099
• MyVariant Identifiers: chr10:g.89692964G>T (hg19) ; chr10:g.87933207G>T (hg38)
• PubMed: PMID:21194675 ; PMID:25525159

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87933207G>T , CM000672.2:g.87933207G>T	GRCh38
NC_000010.10:g.89692964G>T , CM000672.1:g.89692964G>T	GRCh37
NC_000010.9:g.89682944G>T	NCBI36
NG_007466.2:g.74769G>T , LRG_311:g.74769G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.448G>T	ENSP00000514759.2:p.Glu150Ter
ENST00000710265.1:c.448G>T	ENSP00000518161.1:p.Glu150Ter
ENST00000472832.3:c.448G>T	ENSP00000483066.2:p.Glu150Ter
ENST00000688158.2:n.1183G>T
ENST00000688922.2:c.*278G>T	ENSP00000508742.2:n.*278G>T
ENST00000700021.1:c.403G>T	ENSP00000514757.1:p.Glu135Ter
ENST00000700022.1:c.448G>T	ENSP00000514758.1:p.Glu150Ter
ENST00000700029.1:c.282G>T
ENST00000706954.1:c.448G>T	ENSP00000516674.1:p.Glu150Ter
ENST00000706955.1:c.*483G>T	ENSP00000516675.1:n.*483G>T
ENST00000686459.1:c.448G>T	ENSP00000508909.1:p.Glu150Ter
ENST00000688158.1:c.*559G>T	ENSP00000509254.1:n.*559G>T
ENST00000688308.1:c.448G>T	ENSP00000508752.1:p.Glu150Ter
ENST00000688922.1:c.369G>T
ENST00000693560.1:c.967G>T	ENSP00000509861.1:p.Glu323Ter
ENST00000371953.8:c.448G>T MANE Select	ENSP00000361021.3:p.Glu150Ter
ENST00000371953.7:c.448G>T	ENSP00000361021.3:p.Glu150Ter
ENST00000498703.1:n.274G>T
ENST00000610634.1:c.346G>T	ENSP00000477517.1:p.Glu116Ter
NM_000314.5:c.448G>T	NP_000305.3:p.Glu150Ter
NM_000314.6:c.448G>T	NP_000305.3:p.Glu150Ter
NM_001304717.2:c.967G>T	NP_001291646.2:p.Glu323Ter
NM_001304718.1:c.-303G>T	NP_001291647.1:n.-303G>T
XM_006717926.2:c.403G>T	XP_006717989.1:p.Glu135Ter
XM_011539981.1:c.448G>T	XP_011538283.1:p.Glu150Ter
XM_011539982.1:c.352G>T	XP_011538284.1:p.Glu118Ter
XR_945789.1:n.1160G>T
XR_945790.1:n.1160G>T
XR_945791.1:n.1160G>T
NM_000314.7:c.448G>T	NP_000305.3:p.Glu150Ter
NM_001304717.5:c.967G>T	NP_001291646.4:p.Glu323Ter
NM_001304718.2:c.-303G>T	NP_001291647.1:n.-303G>T
NM_000314.8:c.448G>T MANE Select	NP_000305.3:p.Glu150Ter