Canonical Allele Identifier: CA377482258
Community Standard Title: NM_000314.8(PTEN):c.355G>T (p.Val119Phe)
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87933114G>T , CM000672.2:g.87933114G>T GRCh38
NC_000010.10:g.89692871G>T , CM000672.1:g.89692871G>T GRCh37
NC_000010.9:g.89682851G>T NCBI36
NG_007466.2:g.74676G>T , LRG_311:g.74676G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000314.8:c.355G>T MANE Select NP_000305.3:p.Val119Phe
ENST00000371953.8:c.355G>T MANE Select ENSP00000361021.3:p.Val119Phe
NM_000314.5:c.355G>T NP_000305.3:p.Val119Phe
NM_000314.6:c.355G>T NP_000305.3:p.Val119Phe
NM_000314.7:c.355G>T NP_000305.3:p.Val119Phe
NM_001304717.2:c.874G>T NP_001291646.2:p.Val292Phe
NM_001304717.5:c.874G>T NP_001291646.4:p.Val292Phe
NM_001304718.1:c.-396G>T NP_001291647.1:n.-396G>T
NM_001304718.2:c.-396G>T NP_001291647.1:n.-396G>T
ENST00000371953.7:c.355G>T ENSP00000361021.3:p.Val119Phe
ENST00000472832.3:c.355G>T ENSP00000483066.2:p.Val119Phe
ENST00000498703.1:n.181G>T
ENST00000610634.1:c.253G>T ENSP00000477517.1:p.Val85Phe
ENST00000686459.1:c.355G>T ENSP00000508909.1:p.Val119Phe
ENST00000688158.1:c.*466G>T ENSP00000509254.1:n.*466G>T
ENST00000688158.2:n.1090G>T
ENST00000688308.1:c.355G>T ENSP00000508752.1:p.Val119Phe
ENST00000688922.1:c.276G>T
ENST00000688922.2:c.*185G>T ENSP00000508742.2:n.*185G>T
ENST00000693560.1:c.874G>T ENSP00000509861.1:p.Val292Phe
ENST00000700021.1:c.310G>T ENSP00000514757.1:p.Val104Phe
ENST00000700022.1:c.355G>T ENSP00000514758.1:p.Val119Phe
ENST00000700029.1:c.189G>T
ENST00000700029.2:c.355G>T ENSP00000514759.2:p.Val119Phe
ENST00000706954.1:c.355G>T ENSP00000516674.1:p.Val119Phe
ENST00000706955.1:c.*390G>T ENSP00000516675.1:n.*390G>T
ENST00000710265.1:c.355G>T ENSP00000518161.1:p.Val119Phe
XM_006717926.2:c.310G>T XP_006717989.1:p.Val104Phe
XM_011539981.1:c.355G>T XP_011538283.1:p.Val119Phe
XM_011539982.1:c.259G>T XP_011538284.1:p.Val87Phe
XR_945789.1:n.1067G>T
XR_945790.1:n.1067G>T
XR_945791.1:n.1067G>T