Canonical Allele Identifier: CA1926188622
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87958012T= , CM000672.2:g.87958012T= GRCh38
NC_000010.10:g.89717769T= , CM000672.1:g.89717769T= GRCh37
NC_000010.9:g.89707749T= NCBI36
NG_007466.2:g.99574T= , LRG_311:g.99574T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.794T= ENSP00000514759.2:p.Leu265=
ENST00000710265.1:c.794T= ENSP00000518161.1:p.Leu265=
ENST00000472832.3:c.794T= ENSP00000483066.2:p.Leu265=
ENST00000688158.2:n.1529T=
ENST00000688922.2:c.*624T= ENSP00000508742.2:n.*624T=
ENST00000700021.1:c.749T= ENSP00000514757.1:p.Leu250=
ENST00000700022.1:c.*133T= ENSP00000514758.1:n.*133T=
ENST00000700023.1:n.1952T=
ENST00000700024.1:n.2186T=
ENST00000700025.1:n.1563T=
ENST00000700026.1:n.431T=
ENST00000700029.1:c.628T=
ENST00000706954.1:c.794T= ENSP00000516674.1:p.Leu265=
ENST00000706955.1:c.*829T= ENSP00000516675.1:n.*829T=
ENST00000686459.1:c.*380T= ENSP00000508909.1:n.*380T=
ENST00000688158.1:c.*905T= ENSP00000509254.1:n.*905T=
ENST00000688308.1:c.794T= ENSP00000508752.1:p.Leu265=
ENST00000688922.1:c.715T=
ENST00000693560.1:c.1313T= ENSP00000509861.1:p.Leu438=
ENST00000371953.8:c.794T= MANE Select ENSP00000361021.3:p.Leu265=
ENST00000371953.7:c.794T= ENSP00000361021.3:p.Leu265=
ENST00000472832.2:c.221T= ENSP00000483066.1:p.Leu74=
NM_000314.5:c.794T= NP_000305.3:p.Leu265=
NM_000314.6:c.794T= NP_000305.3:p.Leu265=
NM_001304717.2:c.1313T= NP_001291646.2:p.Leu438=
NM_001304718.1:c.203T= NP_001291647.1:p.Leu68=
XM_006717926.2:c.749T= XP_006717989.1:p.Leu250=
XM_011539981.1:c.794T= XP_011538283.1:p.Leu265=
XM_011539982.1:c.698T= XP_011538284.1:p.Leu233=
XR_945791.1:n.1364T=
NM_000314.7:c.794T= NP_000305.3:p.Leu265=
NM_001304717.5:c.1313T= NP_001291646.4:p.Leu438=
NM_001304718.2:c.203T= NP_001291647.1:p.Leu68=
NM_000314.8:c.794T= MANE Select NP_000305.3:p.Leu265=