Canonical Allele Identifier: CA377485030
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 2764864
ClinVar RCV Id: RCV003510241

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957985A>G , CM000672.2:g.87957985A>G GRCh38
NC_000010.10:g.89717742A>G , CM000672.1:g.89717742A>G GRCh37
NC_000010.9:g.89707722A>G NCBI36
NG_007466.2:g.99547A>G , LRG_311:g.99547A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.767A>G ENSP00000514759.2:p.Glu256Gly
ENST00000710265.1:c.767A>G ENSP00000518161.1:p.Glu256Gly
ENST00000472832.3:c.767A>G ENSP00000483066.2:p.Glu256Gly
ENST00000688158.2:n.1502A>G
ENST00000688922.2:c.*597A>G ENSP00000508742.2:n.*597A>G
ENST00000700021.1:c.722A>G ENSP00000514757.1:p.Glu241Gly
ENST00000700022.1:c.*106A>G ENSP00000514758.1:n.*106A>G
ENST00000700023.1:n.1925A>G
ENST00000700024.1:n.2159A>G
ENST00000700025.1:n.1536A>G
ENST00000700026.1:n.404A>G
ENST00000700029.1:c.601A>G
ENST00000706954.1:c.767A>G ENSP00000516674.1:p.Glu256Gly
ENST00000706955.1:c.*802A>G ENSP00000516675.1:n.*802A>G
ENST00000686459.1:c.*353A>G ENSP00000508909.1:n.*353A>G
ENST00000688158.1:c.*878A>G ENSP00000509254.1:n.*878A>G
ENST00000688308.1:c.767A>G ENSP00000508752.1:p.Glu256Gly
ENST00000688922.1:c.688A>G
ENST00000693560.1:c.1286A>G ENSP00000509861.1:p.Glu429Gly
ENST00000371953.8:c.767A>G MANE Select ENSP00000361021.3:p.Glu256Gly
ENST00000371953.7:c.767A>G ENSP00000361021.3:p.Glu256Gly
ENST00000472832.2:c.194A>G ENSP00000483066.1:p.Glu65Gly
NM_000314.5:c.767A>G NP_000305.3:p.Glu256Gly
NM_000314.6:c.767A>G NP_000305.3:p.Glu256Gly
NM_001304717.2:c.1286A>G NP_001291646.2:p.Glu429Gly
NM_001304718.1:c.176A>G NP_001291647.1:p.Glu59Gly
XM_006717926.2:c.722A>G XP_006717989.1:p.Glu241Gly
XM_011539981.1:c.767A>G XP_011538283.1:p.Glu256Gly
XM_011539982.1:c.671A>G XP_011538284.1:p.Glu224Gly
XR_945791.1:n.1337A>G
NM_000314.7:c.767A>G NP_000305.3:p.Glu256Gly
NM_001304717.5:c.1286A>G NP_001291646.4:p.Glu429Gly
NM_001304718.2:c.176A>G NP_001291647.1:p.Glu59Gly
NM_000314.8:c.767A>G MANE Select NP_000305.3:p.Glu256Gly