Canonical Allele Identifier: CA000431

Gene: PTEN

Linked Data

• ClinVar Variation Id: 7812
• ClinVar RCV Id: RCV000008255 ; RCV000413815 ; RCV000490577 ; RCV001021326 ; RCV003332076
• dbSNP Id: rs121909218
• COSMIC: COSM28917
• MyVariant Identifiers: chr10:g.89692902G>A (hg19) ; chr10:g.87933145G>A (hg38)
• PubMed: PMID:9140396 ; PMID:10051603 ; PMID:28526761

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87933145G>A , CM000672.2:g.87933145G>A	GRCh38
NC_000010.10:g.89692902G>A , CM000672.1:g.89692902G>A	GRCh37
NC_000010.9:g.89682882G>A	NCBI36
NG_007466.2:g.74707G>A , LRG_311:g.74707G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.386G>A	ENSP00000514759.2:p.Gly129Glu
ENST00000710265.1:c.386G>A	ENSP00000518161.1:p.Gly129Glu
ENST00000472832.3:c.386G>A	ENSP00000483066.2:p.Gly129Glu
ENST00000688158.2:n.1121G>A
ENST00000688922.2:c.*216G>A	ENSP00000508742.2:n.*216G>A
ENST00000700021.1:c.341G>A	ENSP00000514757.1:p.Gly114Glu
ENST00000700022.1:c.386G>A	ENSP00000514758.1:p.Gly129Glu
ENST00000700029.1:c.220G>A
ENST00000706954.1:c.386G>A	ENSP00000516674.1:p.Gly129Glu
ENST00000706955.1:c.*421G>A	ENSP00000516675.1:n.*421G>A
ENST00000686459.1:c.386G>A	ENSP00000508909.1:p.Gly129Glu
ENST00000688158.1:c.*497G>A	ENSP00000509254.1:n.*497G>A
ENST00000688308.1:c.386G>A	ENSP00000508752.1:p.Gly129Glu
ENST00000688922.1:c.307G>A
ENST00000693560.1:c.905G>A	ENSP00000509861.1:p.Gly302Glu
ENST00000371953.8:c.386G>A MANE Select	ENSP00000361021.3:p.Gly129Glu
ENST00000371953.7:c.386G>A	ENSP00000361021.3:p.Gly129Glu
ENST00000498703.1:n.212G>A
ENST00000610634.1:c.284G>A	ENSP00000477517.1:p.Gly95Glu
NM_000314.5:c.386G>A	NP_000305.3:p.Gly129Glu
NM_000314.6:c.386G>A	NP_000305.3:p.Gly129Glu
NM_001304717.2:c.905G>A	NP_001291646.2:p.Gly302Glu
NM_001304718.1:c.-365G>A	NP_001291647.1:n.-365G>A
XM_006717926.2:c.341G>A	XP_006717989.1:p.Gly114Glu
XM_011539981.1:c.386G>A	XP_011538283.1:p.Gly129Glu
XM_011539982.1:c.290G>A	XP_011538284.1:p.Gly97Glu
XR_945789.1:n.1098G>A
XR_945790.1:n.1098G>A
XR_945791.1:n.1098G>A
NM_000314.7:c.386G>A	NP_000305.3:p.Gly129Glu
NM_001304717.5:c.905G>A	NP_001291646.4:p.Gly302Glu
NM_001304718.2:c.-365G>A	NP_001291647.1:n.-365G>A
NM_000314.8:c.386G>A MANE Select	NP_000305.3:p.Gly129Glu