Canonical Allele Identifier: CA000448

Gene: PTEN

Linked Data

• ClinVar Variation Id: 142287
• ClinVar RCV Id: RCV000131316 ; RCV000521053 ; RCV000645036 ; RCV000785581 ; RCV003453083
• dbSNP Id: rs587782360
• COSMIC: COSM5065
• MyVariant Identifiers: chr10:g.89692919A>G (hg19) ; chr10:g.87933162A>G (hg38)
• PubMed: PMID:10400993 ; PMID:11234884 ; PMID:11849740 ; PMID:12938083 ; PMID:16894538 ; PMID:21194675 ; PMID:22473468

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87933162A>G , CM000672.2:g.87933162A>G	GRCh38
NC_000010.10:g.89692919A>G , CM000672.1:g.89692919A>G	GRCh37
NC_000010.9:g.89682899A>G	NCBI36
NG_007466.2:g.74724A>G , LRG_311:g.74724A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.403A>G	ENSP00000514759.2:p.Ile135Val
ENST00000710265.1:c.403A>G	ENSP00000518161.1:p.Ile135Val
ENST00000472832.3:c.403A>G	ENSP00000483066.2:p.Ile135Val
ENST00000688158.2:n.1138A>G
ENST00000688922.2:c.*233A>G	ENSP00000508742.2:n.*233A>G
ENST00000700021.1:c.358A>G	ENSP00000514757.1:p.Ile120Val
ENST00000700022.1:c.403A>G	ENSP00000514758.1:p.Ile135Val
ENST00000700029.1:c.237A>G
ENST00000706954.1:c.403A>G	ENSP00000516674.1:p.Ile135Val
ENST00000706955.1:c.*438A>G	ENSP00000516675.1:n.*438A>G
ENST00000686459.1:c.403A>G	ENSP00000508909.1:p.Ile135Val
ENST00000688158.1:c.*514A>G	ENSP00000509254.1:n.*514A>G
ENST00000688308.1:c.403A>G	ENSP00000508752.1:p.Ile135Val
ENST00000688922.1:c.324A>G
ENST00000693560.1:c.922A>G	ENSP00000509861.1:p.Ile308Val
ENST00000371953.8:c.403A>G MANE Select	ENSP00000361021.3:p.Ile135Val
ENST00000371953.7:c.403A>G	ENSP00000361021.3:p.Ile135Val
ENST00000498703.1:n.229A>G
ENST00000610634.1:c.301A>G	ENSP00000477517.1:p.Ile101Val
NM_000314.5:c.403A>G	NP_000305.3:p.Ile135Val
NM_000314.6:c.403A>G	NP_000305.3:p.Ile135Val
NM_001304717.2:c.922A>G	NP_001291646.2:p.Ile308Val
NM_001304718.1:c.-348A>G	NP_001291647.1:n.-348A>G
XM_006717926.2:c.358A>G	XP_006717989.1:p.Ile120Val
XM_011539981.1:c.403A>G	XP_011538283.1:p.Ile135Val
XM_011539982.1:c.307A>G	XP_011538284.1:p.Ile103Val
XR_945789.1:n.1115A>G
XR_945790.1:n.1115A>G
XR_945791.1:n.1115A>G
NM_000314.7:c.403A>G	NP_000305.3:p.Ile135Val
NM_001304717.5:c.922A>G	NP_001291646.4:p.Ile308Val
NM_001304718.2:c.-348A>G	NP_001291647.1:n.-348A>G
NM_000314.8:c.403A>G MANE Select	NP_000305.3:p.Ile135Val