Canonical Allele Identifier: CA000442
Community Standard Title: NM_000314.8(PTEN):c.392C>T (p.Thr131Ile)
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87933151C>T , CM000672.2:g.87933151C>T GRCh38
NC_000010.10:g.89692908C>T , CM000672.1:g.89692908C>T GRCh37
NC_000010.9:g.89682888C>T NCBI36
NG_007466.2:g.74713C>T , LRG_311:g.74713C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000314.8:c.392C>T MANE Select NP_000305.3:p.Thr131Ile
ENST00000371953.8:c.392C>T MANE Select ENSP00000361021.3:p.Thr131Ile
NM_000314.5:c.392C>T NP_000305.3:p.Thr131Ile
NM_000314.6:c.392C>T NP_000305.3:p.Thr131Ile
NM_000314.7:c.392C>T NP_000305.3:p.Thr131Ile
NM_001304717.2:c.911C>T NP_001291646.2:p.Thr304Ile
NM_001304717.5:c.911C>T NP_001291646.4:p.Thr304Ile
NM_001304718.1:c.-359C>T NP_001291647.1:n.-359C>T
NM_001304718.2:c.-359C>T NP_001291647.1:n.-359C>T
ENST00000371953.7:c.392C>T ENSP00000361021.3:p.Thr131Ile
ENST00000472832.3:c.392C>T ENSP00000483066.2:p.Thr131Ile
ENST00000498703.1:n.218C>T
ENST00000610634.1:c.290C>T ENSP00000477517.1:p.Thr97Ile
ENST00000686459.1:c.392C>T ENSP00000508909.1:p.Thr131Ile
ENST00000688158.1:c.*503C>T ENSP00000509254.1:n.*503C>T
ENST00000688158.2:n.1127C>T
ENST00000688308.1:c.392C>T ENSP00000508752.1:p.Thr131Ile
ENST00000688922.1:c.313C>T
ENST00000688922.2:c.*222C>T ENSP00000508742.2:n.*222C>T
ENST00000693560.1:c.911C>T ENSP00000509861.1:p.Thr304Ile
ENST00000700021.1:c.347C>T ENSP00000514757.1:p.Thr116Ile
ENST00000700022.1:c.392C>T ENSP00000514758.1:p.Thr131Ile
ENST00000700029.1:c.226C>T
ENST00000700029.2:c.392C>T ENSP00000514759.2:p.Thr131Ile
ENST00000706954.1:c.392C>T ENSP00000516674.1:p.Thr131Ile
ENST00000706955.1:c.*427C>T ENSP00000516675.1:n.*427C>T
ENST00000710265.1:c.392C>T ENSP00000518161.1:p.Thr131Ile
XM_006717926.2:c.347C>T XP_006717989.1:p.Thr116Ile
XM_011539981.1:c.392C>T XP_011538283.1:p.Thr131Ile
XM_011539982.1:c.296C>T XP_011538284.1:p.Thr99Ile
XR_945789.1:n.1104C>T
XR_945790.1:n.1104C>T
XR_945791.1:n.1104C>T