Canonical Allele Identifier: CA10578922
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 232528
dbSNP Id: rs767623493
COSMIC: COSM5301

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957968T>A , CM000672.2:g.87957968T>A GRCh38
NC_000010.10:g.89717725T>A , CM000672.1:g.89717725T>A GRCh37
NC_000010.9:g.89707705T>A NCBI36
NG_007466.2:g.99530T>A , LRG_311:g.99530T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.750T>A ENSP00000514759.2:p.Cys250Ter
ENST00000710265.1:c.750T>A ENSP00000518161.1:p.Cys250Ter
ENST00000472832.3:c.750T>A ENSP00000483066.2:p.Cys250Ter
ENST00000688158.2:n.1485T>A
ENST00000688922.2:c.*580T>A ENSP00000508742.2:n.*580T>A
ENST00000700021.1:c.705T>A ENSP00000514757.1:p.Cys235Ter
ENST00000700022.1:c.*89T>A ENSP00000514758.1:n.*89T>A
ENST00000700023.1:n.1908T>A
ENST00000700024.1:n.2142T>A
ENST00000700025.1:n.1519T>A
ENST00000700026.1:n.387T>A
ENST00000700029.1:c.584T>A
ENST00000706954.1:c.750T>A ENSP00000516674.1:p.Cys250Ter
ENST00000706955.1:c.*785T>A ENSP00000516675.1:n.*785T>A
ENST00000686459.1:c.*336T>A ENSP00000508909.1:n.*336T>A
ENST00000688158.1:c.*861T>A ENSP00000509254.1:n.*861T>A
ENST00000688308.1:c.750T>A ENSP00000508752.1:p.Cys250Ter
ENST00000688922.1:c.671T>A
ENST00000693560.1:c.1269T>A ENSP00000509861.1:p.Cys423Ter
ENST00000371953.8:c.750T>A MANE Select ENSP00000361021.3:p.Cys250Ter
ENST00000371953.7:c.750T>A ENSP00000361021.3:p.Cys250Ter
ENST00000472832.2:c.177T>A ENSP00000483066.1:p.Cys59Ter
NM_000314.5:c.750T>A NP_000305.3:p.Cys250Ter
NM_000314.6:c.750T>A NP_000305.3:p.Cys250Ter
NM_001304717.2:c.1269T>A NP_001291646.2:p.Cys423Ter
NM_001304718.1:c.159T>A NP_001291647.1:p.Cys53Ter
XM_006717926.2:c.705T>A XP_006717989.1:p.Cys235Ter
XM_011539981.1:c.750T>A XP_011538283.1:p.Cys250Ter
XM_011539982.1:c.654T>A XP_011538284.1:p.Cys218Ter
XR_945791.1:n.1320T>A
NM_000314.7:c.750T>A NP_000305.3:p.Cys250Ter
NM_001304717.5:c.1269T>A NP_001291646.4:p.Cys423Ter
NM_001304718.2:c.159T>A NP_001291647.1:p.Cys53Ter
NM_000314.8:c.750T>A MANE Select NP_000305.3:p.Cys250Ter