Canonical Allele Identifier: CA470671383
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 480385
dbSNP Id: rs1345063638

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87965391T>C , CM000672.2:g.87965391T>C GRCh38
NC_000010.10:g.89725148T>C , CM000672.1:g.89725148T>C GRCh37
NC_000010.9:g.89715128T>C NCBI36
NG_007466.2:g.106953T>C , LRG_311:g.106953T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1224T>C ENSP00000514759.2:p.Tyr408=
ENST00000710265.1:c.*160T>C ENSP00000518161.1:n.*160T>C
ENST00000688158.2:n.1866T>C
ENST00000688922.2:c.*961T>C ENSP00000508742.2:n.*961T>C
ENST00000700021.1:c.1086T>C ENSP00000514757.1:p.Tyr362=
ENST00000700022.1:c.*470T>C ENSP00000514758.1:n.*470T>C
ENST00000700023.1:n.2289T>C
ENST00000700024.1:n.2523T>C
ENST00000706954.1:c.1131T>C ENSP00000516674.1:p.Tyr377=
ENST00000706955.1:c.*1166T>C ENSP00000516675.1:n.*1166T>C
ENST00000686459.1:c.*717T>C ENSP00000508909.1:n.*717T>C
ENST00000688158.1:c.*1242T>C ENSP00000509254.1:n.*1242T>C
ENST00000688308.1:c.1131T>C ENSP00000508752.1:p.Tyr377=
ENST00000688922.1:c.1052T>C
ENST00000693560.1:c.1650T>C ENSP00000509861.1:p.Tyr550=
ENST00000371953.8:c.1131T>C MANE Select ENSP00000361021.3:p.Tyr377=
ENST00000371953.7:c.1131T>C ENSP00000361021.3:p.Tyr377=
NM_000314.5:c.1131T>C NP_000305.3:p.Tyr377=
NM_000314.6:c.1131T>C NP_000305.3:p.Tyr377=
NM_001304717.2:c.1650T>C NP_001291646.2:p.Tyr550=
NM_001304718.1:c.540T>C NP_001291647.1:p.Tyr180=
XM_006717926.2:c.1086T>C XP_006717989.1:p.Tyr362=
XM_011539982.1:c.1035T>C XP_011538284.1:p.Tyr345=
XR_945791.1:n.1701T>C
NM_000314.7:c.1131T>C NP_000305.3:p.Tyr377=
NM_001304717.5:c.1650T>C NP_001291646.4:p.Tyr550=
NM_001304718.2:c.540T>C NP_001291647.1:p.Tyr180=
NM_000314.8:c.1131T>C MANE Select NP_000305.3:p.Tyr377=