Canonical Allele Identifier: CA1926188624
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87958013A= , CM000672.2:g.87958013A= GRCh38
NC_000010.10:g.89717770A= , CM000672.1:g.89717770A= GRCh37
NC_000010.9:g.89707750A= NCBI36
NG_007466.2:g.99575A= , LRG_311:g.99575A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.795A= ENSP00000514759.2:p.Leu265=
ENST00000710265.1:c.795A= ENSP00000518161.1:p.Leu265=
ENST00000472832.3:c.795A= ENSP00000483066.2:p.Leu265=
ENST00000688158.2:n.1530A=
ENST00000688922.2:c.*625A= ENSP00000508742.2:n.*625A=
ENST00000700021.1:c.750A= ENSP00000514757.1:p.Leu250=
ENST00000700022.1:c.*134A= ENSP00000514758.1:n.*134A=
ENST00000700023.1:n.1953A=
ENST00000700024.1:n.2187A=
ENST00000700025.1:n.1564A=
ENST00000700026.1:n.432A=
ENST00000700029.1:c.629A=
ENST00000706954.1:c.795A= ENSP00000516674.1:p.Leu265=
ENST00000706955.1:c.*830A= ENSP00000516675.1:n.*830A=
ENST00000686459.1:c.*381A= ENSP00000508909.1:n.*381A=
ENST00000688158.1:c.*906A= ENSP00000509254.1:n.*906A=
ENST00000688308.1:c.795A= ENSP00000508752.1:p.Leu265=
ENST00000688922.1:c.716A=
ENST00000693560.1:c.1314A= ENSP00000509861.1:p.Leu438=
ENST00000371953.8:c.795A= MANE Select ENSP00000361021.3:p.Leu265=
ENST00000371953.7:c.795A= ENSP00000361021.3:p.Leu265=
ENST00000472832.2:c.222A= ENSP00000483066.1:p.Leu74=
NM_000314.5:c.795A= NP_000305.3:p.Leu265=
NM_000314.6:c.795A= NP_000305.3:p.Leu265=
NM_001304717.2:c.1314A= NP_001291646.2:p.Leu438=
NM_001304718.1:c.204A= NP_001291647.1:p.Leu68=
XM_006717926.2:c.750A= XP_006717989.1:p.Leu250=
XM_011539981.1:c.795A= XP_011538283.1:p.Leu265=
XM_011539982.1:c.699A= XP_011538284.1:p.Leu233=
XR_945791.1:n.1365A=
NM_000314.7:c.795A= NP_000305.3:p.Leu265=
NM_001304717.5:c.1314A= NP_001291646.4:p.Leu438=
NM_001304718.2:c.204A= NP_001291647.1:p.Leu68=
NM_000314.8:c.795A= MANE Select NP_000305.3:p.Leu265=