Canonical Allele Identifier: CA357779
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 224543
dbSNP Id: rs869312776

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87933167T>G , CM000672.2:g.87933167T>G GRCh38
NC_000010.10:g.89692924T>G , CM000672.1:g.89692924T>G GRCh37
NC_000010.9:g.89682904T>G NCBI36
NG_007466.2:g.74729T>G , LRG_311:g.74729T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.408T>G ENSP00000514759.2:p.Cys136Trp
ENST00000710265.1:c.408T>G ENSP00000518161.1:p.Cys136Trp
ENST00000472832.3:c.408T>G ENSP00000483066.2:p.Cys136Trp
ENST00000688158.2:n.1143T>G
ENST00000688922.2:c.*238T>G ENSP00000508742.2:n.*238T>G
ENST00000700021.1:c.363T>G ENSP00000514757.1:p.Cys121Trp
ENST00000700022.1:c.408T>G ENSP00000514758.1:p.Cys136Trp
ENST00000700029.1:c.242T>G
ENST00000706954.1:c.408T>G ENSP00000516674.1:p.Cys136Trp
ENST00000706955.1:c.*443T>G ENSP00000516675.1:n.*443T>G
ENST00000686459.1:c.408T>G ENSP00000508909.1:p.Cys136Trp
ENST00000688158.1:c.*519T>G ENSP00000509254.1:n.*519T>G
ENST00000688308.1:c.408T>G ENSP00000508752.1:p.Cys136Trp
ENST00000688922.1:c.329T>G
ENST00000693560.1:c.927T>G ENSP00000509861.1:p.Cys309Trp
ENST00000371953.8:c.408T>G MANE Select ENSP00000361021.3:p.Cys136Trp
ENST00000371953.7:c.408T>G ENSP00000361021.3:p.Cys136Trp
ENST00000498703.1:n.234T>G
ENST00000610634.1:c.306T>G ENSP00000477517.1:p.Cys102Trp
NM_000314.5:c.408T>G NP_000305.3:p.Cys136Trp
NM_000314.6:c.408T>G NP_000305.3:p.Cys136Trp
NM_001304717.2:c.927T>G NP_001291646.2:p.Cys309Trp
NM_001304718.1:c.-343T>G NP_001291647.1:n.-343T>G
XM_006717926.2:c.363T>G XP_006717989.1:p.Cys121Trp
XM_011539981.1:c.408T>G XP_011538283.1:p.Cys136Trp
XM_011539982.1:c.312T>G XP_011538284.1:p.Cys104Trp
XR_945789.1:n.1120T>G
XR_945790.1:n.1120T>G
XR_945791.1:n.1120T>G
NM_000314.7:c.408T>G NP_000305.3:p.Cys136Trp
NM_001304717.5:c.927T>G NP_001291646.4:p.Cys309Trp
NM_001304718.2:c.-343T>G NP_001291647.1:n.-343T>G
NM_000314.8:c.408T>G MANE Select NP_000305.3:p.Cys136Trp