Canonical Allele Identifier: CA10582770
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 237638
ClinVar RCV Id: RCV000228166
dbSNP Id: rs878853932

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87965318A>G , CM000672.2:g.87965318A>G GRCh38
NC_000010.10:g.89725075A>G , CM000672.1:g.89725075A>G GRCh37
NC_000010.9:g.89715055A>G NCBI36
NG_007466.2:g.106880A>G , LRG_311:g.106880A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1151A>G ENSP00000514759.2:p.Glu384Gly
ENST00000710265.1:c.*87A>G ENSP00000518161.1:n.*87A>G
ENST00000688158.2:n.1793A>G
ENST00000688922.2:c.*888A>G ENSP00000508742.2:n.*888A>G
ENST00000700021.1:c.1013A>G ENSP00000514757.1:p.Glu338Gly
ENST00000700022.1:c.*397A>G ENSP00000514758.1:n.*397A>G
ENST00000700023.1:n.2216A>G
ENST00000700024.1:n.2450A>G
ENST00000706954.1:c.1058A>G ENSP00000516674.1:p.Glu353Gly
ENST00000706955.1:c.*1093A>G ENSP00000516675.1:n.*1093A>G
ENST00000686459.1:c.*644A>G ENSP00000508909.1:n.*644A>G
ENST00000688158.1:c.*1169A>G ENSP00000509254.1:n.*1169A>G
ENST00000688308.1:c.1058A>G ENSP00000508752.1:p.Glu353Gly
ENST00000688922.1:c.979A>G
ENST00000693560.1:c.1577A>G ENSP00000509861.1:p.Glu526Gly
ENST00000371953.8:c.1058A>G MANE Select ENSP00000361021.3:p.Glu353Gly
ENST00000371953.7:c.1058A>G ENSP00000361021.3:p.Glu353Gly
NM_000314.5:c.1058A>G NP_000305.3:p.Glu353Gly
NM_000314.6:c.1058A>G NP_000305.3:p.Glu353Gly
NM_001304717.2:c.1577A>G NP_001291646.2:p.Glu526Gly
NM_001304718.1:c.467A>G NP_001291647.1:p.Glu156Gly
XM_006717926.2:c.1013A>G XP_006717989.1:p.Glu338Gly
XM_011539982.1:c.962A>G XP_011538284.1:p.Glu321Gly
XR_945791.1:n.1628A>G
NM_000314.7:c.1058A>G NP_000305.3:p.Glu353Gly
NM_001304717.5:c.1577A>G NP_001291646.4:p.Glu526Gly
NM_001304718.2:c.467A>G NP_001291647.1:p.Glu156Gly
NM_000314.8:c.1058A>G MANE Select NP_000305.3:p.Glu353Gly