Canonical Allele Identifier: CA000539

Gene: PTEN

Linked Data

• ClinVar Variation Id: 7838
• ClinVar RCV Id: RCV000008286 ; RCV001342733
• dbSNP Id: rs121909234
• COSMIC: COSM5058
• MyVariant Identifiers: chr10:g.89717624G>A (hg19) ; chr10:g.87957867G>A (hg38)
• PubMed: PMID:10978354

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87957867G>A , CM000672.2:g.87957867G>A	GRCh38
NC_000010.10:g.89717624G>A , CM000672.1:g.89717624G>A	GRCh37
NC_000010.9:g.89707604G>A	NCBI36
NG_007466.2:g.99429G>A , LRG_311:g.99429G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000700029.2:c.649G>A	ENSP00000514759.2:p.Val217Ile
ENST00000710265.1:c.649G>A	ENSP00000518161.1:p.Val217Ile
ENST00000472832.3:c.649G>A	ENSP00000483066.2:p.Val217Ile
ENST00000688158.2:n.1384G>A
ENST00000688922.2:c.*479G>A	ENSP00000508742.2:n.*479G>A
ENST00000700021.1:c.604G>A	ENSP00000514757.1:p.Val202Ile
ENST00000700022.1:c.507G>A	ENSP00000514758.1:p.Trp169Ter
ENST00000700023.1:n.1807G>A
ENST00000700024.1:n.2041G>A
ENST00000700025.1:n.1418G>A
ENST00000700026.1:n.286G>A
ENST00000700029.1:c.483G>A
ENST00000706954.1:c.649G>A	ENSP00000516674.1:p.Val217Ile
ENST00000706955.1:c.*684G>A	ENSP00000516675.1:n.*684G>A
ENST00000686459.1:c.*235G>A	ENSP00000508909.1:n.*235G>A
ENST00000688158.1:c.*760G>A	ENSP00000509254.1:n.*760G>A
ENST00000688308.1:c.649G>A	ENSP00000508752.1:p.Val217Ile
ENST00000688922.1:c.570G>A
ENST00000693560.1:c.1168G>A	ENSP00000509861.1:p.Val390Ile
ENST00000371953.8:c.649G>A MANE Select	ENSP00000361021.3:p.Val217Ile
ENST00000371953.7:c.649G>A	ENSP00000361021.3:p.Val217Ile
ENST00000472832.2:c.76G>A	ENSP00000483066.1:p.Val26Ile
NM_000314.5:c.649G>A	NP_000305.3:p.Val217Ile
NM_000314.6:c.649G>A	NP_000305.3:p.Val217Ile
NM_001304717.2:c.1168G>A	NP_001291646.2:p.Val390Ile
NM_001304718.1:c.58G>A	NP_001291647.1:p.Val20Ile
XM_006717926.2:c.604G>A	XP_006717989.1:p.Val202Ile
XM_011539981.1:c.649G>A	XP_011538283.1:p.Val217Ile
XM_011539982.1:c.553G>A	XP_011538284.1:p.Val185Ile
XR_945791.1:n.1219G>A
NM_000314.7:c.649G>A	NP_000305.3:p.Val217Ile
NM_001304717.5:c.1168G>A	NP_001291646.4:p.Val390Ile
NM_001304718.2:c.58G>A	NP_001291647.1:p.Val20Ile
NM_000314.8:c.649G>A MANE Select	NP_000305.3:p.Val217Ile