Canonical Allele Identifier: CA000213

Gene: PTEN

Linked Data

• ClinVar Variation Id: 186293
• ClinVar RCV Id: RCV000165862
• dbSNP Id: rs786202840
• COSMIC: COSM28905
• MyVariant Identifiers: chr10:g.89720699G>T (hg19) ; chr10:g.87960942G>T (hg38)
• PubMed: PMID:18757403 ; PMID:24375884

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87960942G>T , CM000672.2:g.87960942G>T	GRCh38
NC_000010.10:g.89720699G>T , CM000672.1:g.89720699G>T	GRCh37
NC_000010.9:g.89710679G>T	NCBI36
NG_007466.2:g.102504G>T , LRG_311:g.102504G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.943G>T	ENSP00000514759.2:p.Glu315Ter
ENST00000710265.1:c.850G>T	ENSP00000518161.1:p.Glu284Ter
ENST00000472832.3:c.850G>T	ENSP00000483066.2:p.Glu284Ter
ENST00000688158.2:n.1585G>T
ENST00000688922.2:c.*680G>T	ENSP00000508742.2:n.*680G>T
ENST00000700021.1:c.805G>T	ENSP00000514757.1:p.Glu269Ter
ENST00000700022.1:c.*189G>T	ENSP00000514758.1:n.*189G>T
ENST00000700023.1:n.2008G>T
ENST00000700024.1:n.2242G>T
ENST00000700025.1:n.1619G>T
ENST00000700026.1:n.487G>T
ENST00000700029.1:c.777G>T
ENST00000706954.1:c.850G>T	ENSP00000516674.1:p.Glu284Ter
ENST00000706955.1:c.*885G>T	ENSP00000516675.1:n.*885G>T
ENST00000686459.1:c.*436G>T	ENSP00000508909.1:n.*436G>T
ENST00000688158.1:c.*961G>T	ENSP00000509254.1:n.*961G>T
ENST00000688308.1:c.850G>T	ENSP00000508752.1:p.Glu284Ter
ENST00000688922.1:c.771G>T
ENST00000693560.1:c.1369G>T	ENSP00000509861.1:p.Glu457Ter
ENST00000371953.8:c.850G>T MANE Select	ENSP00000361021.3:p.Glu284Ter
ENST00000371953.7:c.850G>T	ENSP00000361021.3:p.Glu284Ter
ENST00000472832.2:c.277G>T	ENSP00000483066.1:p.Glu93Ter
NM_000314.5:c.850G>T	NP_000305.3:p.Glu284Ter
NM_000314.6:c.850G>T	NP_000305.3:p.Glu284Ter
NM_001304717.2:c.1369G>T	NP_001291646.2:p.Glu457Ter
NM_001304718.1:c.259G>T	NP_001291647.1:p.Glu87Ter
XM_006717926.2:c.805G>T	XP_006717989.1:p.Glu269Ter
XM_011539981.1:c.850G>T	XP_011538283.1:p.Glu284Ter
XM_011539982.1:c.754G>T	XP_011538284.1:p.Glu252Ter
XR_945791.1:n.1420G>T
NM_000314.7:c.850G>T	NP_000305.3:p.Glu284Ter
NM_001304717.5:c.1369G>T	NP_001291646.4:p.Glu457Ter
NM_001304718.2:c.259G>T	NP_001291647.1:p.Glu87Ter
NM_000314.8:c.850G>T MANE Select	NP_000305.3:p.Glu284Ter