Canonical Allele Identifier: CA000446

Gene: PTEN

Linked Data

• ClinVar Variation Id: 7852
• ClinVar RCV Id: RCV000008302 ; RCV000221956 ; RCV000489810 ; RCV000656691 ; RCV003460438 ; RCV004532311
• dbSNP Id: rs121909241
• COSMIC: COSM5229
• MyVariant Identifiers: chr10:g.89692911G>T (hg19) ; chr10:g.87933154G>T (hg38)
• PubMed: PMID:12471211 ; PMID:15120218 ; PMID:16752378 ; PMID:21659347 ; PMID:22266152

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87933154G>T , CM000672.2:g.87933154G>T	GRCh38
NC_000010.10:g.89692911G>T , CM000672.1:g.89692911G>T	GRCh37
NC_000010.9:g.89682891G>T	NCBI36
NG_007466.2:g.74716G>T , LRG_311:g.74716G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.395G>T	ENSP00000514759.2:p.Gly132Val
ENST00000710265.1:c.395G>T	ENSP00000518161.1:p.Gly132Val
ENST00000472832.3:c.395G>T	ENSP00000483066.2:p.Gly132Val
ENST00000688158.2:n.1130G>T
ENST00000688922.2:c.*225G>T	ENSP00000508742.2:n.*225G>T
ENST00000700021.1:c.350G>T	ENSP00000514757.1:p.Gly117Val
ENST00000700022.1:c.395G>T	ENSP00000514758.1:p.Gly132Val
ENST00000700029.1:c.229G>T
ENST00000706954.1:c.395G>T	ENSP00000516674.1:p.Gly132Val
ENST00000706955.1:c.*430G>T	ENSP00000516675.1:n.*430G>T
ENST00000686459.1:c.395G>T	ENSP00000508909.1:p.Gly132Val
ENST00000688158.1:c.*506G>T	ENSP00000509254.1:n.*506G>T
ENST00000688308.1:c.395G>T	ENSP00000508752.1:p.Gly132Val
ENST00000688922.1:c.316G>T
ENST00000693560.1:c.914G>T	ENSP00000509861.1:p.Gly305Val
ENST00000371953.8:c.395G>T MANE Select	ENSP00000361021.3:p.Gly132Val
ENST00000371953.7:c.395G>T	ENSP00000361021.3:p.Gly132Val
ENST00000498703.1:n.221G>T
ENST00000610634.1:c.293G>T	ENSP00000477517.1:p.Gly98Val
NM_000314.5:c.395G>T	NP_000305.3:p.Gly132Val
NM_000314.6:c.395G>T	NP_000305.3:p.Gly132Val
NM_001304717.2:c.914G>T	NP_001291646.2:p.Gly305Val
NM_001304718.1:c.-356G>T	NP_001291647.1:n.-356G>T
XM_006717926.2:c.350G>T	XP_006717989.1:p.Gly117Val
XM_011539981.1:c.395G>T	XP_011538283.1:p.Gly132Val
XM_011539982.1:c.299G>T	XP_011538284.1:p.Gly100Val
XR_945789.1:n.1107G>T
XR_945790.1:n.1107G>T
XR_945791.1:n.1107G>T
NM_000314.7:c.395G>T	NP_000305.3:p.Gly132Val
NM_001304717.5:c.914G>T	NP_001291646.4:p.Gly305Val
NM_001304718.2:c.-356G>T	NP_001291647.1:n.-356G>T
NM_000314.8:c.395G>T MANE Select	NP_000305.3:p.Gly132Val