Canonical Allele Identifier: CA377485027

Gene: PTEN

Linked Data

• dbSNP Id: rs121909228
• COSMIC: COSM17564
• MyVariant Identifiers: chr10:g.89717741G>A (hg19) ; chr10:g.87957984G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87957984G>A , CM000672.2:g.87957984G>A	GRCh38
NC_000010.10:g.89717741G>A , CM000672.1:g.89717741G>A	GRCh37
NC_000010.9:g.89707721G>A	NCBI36
NG_007466.2:g.99546G>A , LRG_311:g.99546G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000700029.2:c.766G>A	ENSP00000514759.2:p.Glu256Lys
ENST00000710265.1:c.766G>A	ENSP00000518161.1:p.Glu256Lys
ENST00000472832.3:c.766G>A	ENSP00000483066.2:p.Glu256Lys
ENST00000688158.2:n.1501G>A
ENST00000688922.2:c.*596G>A	ENSP00000508742.2:n.*596G>A
ENST00000700021.1:c.721G>A	ENSP00000514757.1:p.Glu241Lys
ENST00000700022.1:c.*105G>A	ENSP00000514758.1:n.*105G>A
ENST00000700023.1:n.1924G>A
ENST00000700024.1:n.2158G>A
ENST00000700025.1:n.1535G>A
ENST00000700026.1:n.403G>A
ENST00000700029.1:c.600G>A
ENST00000706954.1:c.766G>A	ENSP00000516674.1:p.Glu256Lys
ENST00000706955.1:c.*801G>A	ENSP00000516675.1:n.*801G>A
ENST00000686459.1:c.*352G>A	ENSP00000508909.1:n.*352G>A
ENST00000688158.1:c.*877G>A	ENSP00000509254.1:n.*877G>A
ENST00000688308.1:c.766G>A	ENSP00000508752.1:p.Glu256Lys
ENST00000688922.1:c.687G>A
ENST00000693560.1:c.1285G>A	ENSP00000509861.1:p.Glu429Lys
ENST00000371953.8:c.766G>A MANE Select	ENSP00000361021.3:p.Glu256Lys
ENST00000371953.7:c.766G>A	ENSP00000361021.3:p.Glu256Lys
ENST00000472832.2:c.193G>A	ENSP00000483066.1:p.Glu65Lys
NM_000314.5:c.766G>A	NP_000305.3:p.Glu256Lys
NM_000314.6:c.766G>A	NP_000305.3:p.Glu256Lys
NM_001304717.2:c.1285G>A	NP_001291646.2:p.Glu429Lys
NM_001304718.1:c.175G>A	NP_001291647.1:p.Glu59Lys
XM_006717926.2:c.721G>A	XP_006717989.1:p.Glu241Lys
XM_011539981.1:c.766G>A	XP_011538283.1:p.Glu256Lys
XM_011539982.1:c.670G>A	XP_011538284.1:p.Glu224Lys
XR_945791.1:n.1336G>A
NM_000314.7:c.766G>A	NP_000305.3:p.Glu256Lys
NM_001304717.5:c.1285G>A	NP_001291646.4:p.Glu429Lys
NM_001304718.2:c.175G>A	NP_001291647.1:p.Glu59Lys
NM_000314.8:c.766G>A MANE Select	NP_000305.3:p.Glu256Lys