Canonical Allele Identifier: CA1926171423
Community Standard Title: NM_000314.8(PTEN):c.235G= (p.Ala79=)
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87931071G= , CM000672.2:g.87931071G= GRCh38
NC_000010.10:g.89690828G= , CM000672.1:g.89690828G= GRCh37
NC_000010.9:g.89680808G= NCBI36
NG_007466.2:g.72633G= , LRG_311:g.72633G=

Transcript Alleles

HGVS Amino-acid Change
NM_000314.8:c.235G= MANE Select NP_000305.3:p.Ala79=
ENST00000371953.8:c.235G= MANE Select ENSP00000361021.3:p.Ala79=
NM_000314.5:c.235G= NP_000305.3:p.Ala79=
NM_000314.6:c.235G= NP_000305.3:p.Ala79=
NM_000314.7:c.235G= NP_000305.3:p.Ala79=
NM_001304717.2:c.754G= NP_001291646.2:p.Ala252=
NM_001304717.5:c.754G= NP_001291646.4:p.Ala252=
NM_001304718.1:c.-516G= NP_001291647.1:n.-516G=
NM_001304718.2:c.-516G= NP_001291647.1:n.-516G=
ENST00000371953.7:c.235G= ENSP00000361021.3:p.Ala79=
ENST00000472832.3:c.235G= ENSP00000483066.2:p.Ala79=
ENST00000498703.1:n.61G=
ENST00000610634.1:c.133G= ENSP00000477517.1:p.Ala45=
ENST00000686459.1:c.235G= ENSP00000508909.1:p.Ala79=
ENST00000688158.1:c.*346G= ENSP00000509254.1:n.*346G=
ENST00000688158.2:n.970G=
ENST00000688308.1:c.235G= ENSP00000508752.1:p.Ala79=
ENST00000688922.1:c.156G=
ENST00000688922.2:c.*65G= ENSP00000508742.2:n.*65G=
ENST00000693560.1:c.754G= ENSP00000509861.1:p.Ala252=
ENST00000700021.1:c.190G= ENSP00000514757.1:p.Ala64=
ENST00000700022.1:c.235G= ENSP00000514758.1:p.Ala79=
ENST00000700029.1:c.69G=
ENST00000700029.2:c.235G= ENSP00000514759.2:p.Ala79=
ENST00000706954.1:c.235G= ENSP00000516674.1:p.Ala79=
ENST00000706955.1:c.*270G= ENSP00000516675.1:n.*270G=
ENST00000710265.1:c.235G= ENSP00000518161.1:p.Ala79=
XM_006717926.2:c.190G= XP_006717989.1:p.Ala64=
XM_011539981.1:c.235G= XP_011538283.1:p.Ala79=
XM_011539982.1:c.139G= XP_011538284.1:p.Ala47=
XR_945789.1:n.947G=
XR_945790.1:n.947G=
XR_945791.1:n.947G=