Canonical Allele Identifier: CA377482787
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87933228G>A , CM000672.2:g.87933228G>A GRCh38
NC_000010.10:g.89692985G>A , CM000672.1:g.89692985G>A GRCh37
NC_000010.9:g.89682965G>A NCBI36
NG_007466.2:g.74790G>A , LRG_311:g.74790G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.469G>A ENSP00000514759.2:p.Glu157Lys
ENST00000710265.1:c.469G>A ENSP00000518161.1:p.Glu157Lys
ENST00000472832.3:c.469G>A ENSP00000483066.2:p.Glu157Lys
ENST00000688158.2:n.1204G>A
ENST00000688922.2:c.*299G>A ENSP00000508742.2:n.*299G>A
ENST00000700021.1:c.424G>A ENSP00000514757.1:p.Glu142Lys
ENST00000700022.1:c.469G>A ENSP00000514758.1:p.Glu157Lys
ENST00000700029.1:c.303G>A
ENST00000706954.1:c.469G>A ENSP00000516674.1:p.Glu157Lys
ENST00000706955.1:c.*504G>A ENSP00000516675.1:n.*504G>A
ENST00000686459.1:c.469G>A ENSP00000508909.1:p.Glu157Lys
ENST00000688158.1:c.*580G>A ENSP00000509254.1:n.*580G>A
ENST00000688308.1:c.469G>A ENSP00000508752.1:p.Glu157Lys
ENST00000688922.1:c.390G>A
ENST00000693560.1:c.988G>A ENSP00000509861.1:p.Glu330Lys
ENST00000371953.8:c.469G>A MANE Select ENSP00000361021.3:p.Glu157Lys
ENST00000371953.7:c.469G>A ENSP00000361021.3:p.Glu157Lys
ENST00000498703.1:n.295G>A
ENST00000610634.1:c.367G>A ENSP00000477517.1:p.Glu123Lys
NM_000314.5:c.469G>A NP_000305.3:p.Glu157Lys
NM_000314.6:c.469G>A NP_000305.3:p.Glu157Lys
NM_001304717.2:c.988G>A NP_001291646.2:p.Glu330Lys
NM_001304718.1:c.-282G>A NP_001291647.1:n.-282G>A
XM_006717926.2:c.424G>A XP_006717989.1:p.Glu142Lys
XM_011539981.1:c.469G>A XP_011538283.1:p.Glu157Lys
XM_011539982.1:c.373G>A XP_011538284.1:p.Glu125Lys
XR_945789.1:n.1181G>A
XR_945790.1:n.1181G>A
XR_945791.1:n.1181G>A
NM_000314.7:c.469G>A NP_000305.3:p.Glu157Lys
NM_001304717.5:c.988G>A NP_001291646.4:p.Glu330Lys
NM_001304718.2:c.-282G>A NP_001291647.1:n.-282G>A
NM_000314.8:c.469G>A MANE Select NP_000305.3:p.Glu157Lys