Canonical Allele Identifier: CA000318
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 92813
dbSNP Id: rs150651961
COSMIC: COSM5168

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87894077C>T , CM000672.2:g.87894077C>T GRCh38
NC_000010.10:g.89653834C>T , CM000672.1:g.89653834C>T GRCh37
NC_000010.9:g.89643814C>T NCBI36
NG_007466.2:g.35639C>T , LRG_311:g.35639C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.132C>T ENSP00000514759.2:p.Gly44=
ENST00000710265.1:c.132C>T ENSP00000518161.1:p.Gly44=
ENST00000472832.3:c.132C>T ENSP00000483066.2:p.Gly44=
ENST00000688158.2:n.899+13639C>T
ENST00000688922.2:c.132C>T ENSP00000508742.2:p.Gly44=
ENST00000700021.1:c.132C>T ENSP00000514757.1:p.Gly44=
ENST00000700022.1:c.132C>T ENSP00000514758.1:p.Gly44=
ENST00000706954.1:c.132C>T ENSP00000516674.1:p.Gly44=
ENST00000706955.1:c.*167C>T ENSP00000516675.1:n.*167C>T
ENST00000686459.1:c.132C>T ENSP00000508909.1:p.Gly44=
ENST00000688158.1:c.*275+13639C>T ENSP00000509254.1:n.*275+13639C>T
ENST00000688308.1:c.132C>T ENSP00000508752.1:p.Gly44=
ENST00000688922.1:c.1C>T
ENST00000693560.1:c.651C>T ENSP00000509861.1:p.Gly217=
ENST00000371953.8:c.132C>T MANE Select ENSP00000361021.3:p.Gly44=
ENST00000371953.7:c.132C>T ENSP00000361021.3:p.Gly44=
ENST00000462694.1:n.134C>T
ENST00000610634.1:c.30C>T ENSP00000477517.1:p.Gly10=
NM_000314.5:c.132C>T NP_000305.3:p.Gly44=
NM_000314.6:c.132C>T NP_000305.3:p.Gly44=
NM_001304717.2:c.651C>T NP_001291646.2:p.Gly217=
NM_001304718.1:c.-574C>T NP_001291647.1:n.-574C>T
XM_006717926.2:c.132C>T XP_006717989.1:p.Gly44=
XM_011539981.1:c.132C>T XP_011538283.1:p.Gly44=
XM_011539982.1:c.68+13639C>T XP_011538284.1:n.68+13639C>T
XR_945789.1:n.844C>T
XR_945790.1:n.844C>T
XR_945791.1:n.844C>T
NM_000314.7:c.132C>T NP_000305.3:p.Gly44=
NM_001304717.5:c.651C>T NP_001291646.4:p.Gly217=
NM_001304718.2:c.-574C>T NP_001291647.1:n.-574C>T
NM_000314.8:c.132C>T MANE Select NP_000305.3:p.Gly44=