Canonical Allele Identifier: CA1926182302
Community Standard Title: NM_000314.8(PTEN):c.511C= (p.Gln171=)
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87952136C= , CM000672.2:g.87952136C= GRCh38
NC_000010.10:g.89711893C= , CM000672.1:g.89711893C= GRCh37
NC_000010.9:g.89701873C= NCBI36
NG_007466.2:g.93698C= , LRG_311:g.93698C=

Transcript Alleles

HGVS Amino-acid Change
NM_000314.8:c.511C= MANE Select NP_000305.3:p.Gln171=
ENST00000371953.8:c.511C= MANE Select ENSP00000361021.3:p.Gln171=
NM_000314.5:c.511C= NP_000305.3:p.Gln171=
NM_000314.6:c.511C= NP_000305.3:p.Gln171=
NM_000314.7:c.511C= NP_000305.3:p.Gln171=
NM_001304717.2:c.1030C= NP_001291646.2:p.Gln344=
NM_001304717.5:c.1030C= NP_001291646.4:p.Gln344=
NM_001304718.1:c.-81C= NP_001291647.1:n.-81C=
NM_001304718.2:c.-81C= NP_001291647.1:n.-81C=
ENST00000371953.7:c.511C= ENSP00000361021.3:p.Gln171=
ENST00000472832.3:c.511C= ENSP00000483066.2:p.Gln171=
ENST00000686459.1:c.*97C= ENSP00000508909.1:n.*97C=
ENST00000688158.1:c.*622C= ENSP00000509254.1:n.*622C=
ENST00000688158.2:n.1246C=
ENST00000688308.1:c.511C= ENSP00000508752.1:p.Gln171=
ENST00000688922.1:c.432C=
ENST00000688922.2:c.*341C= ENSP00000508742.2:n.*341C=
ENST00000693560.1:c.1030C= ENSP00000509861.1:p.Gln344=
ENST00000700021.1:c.466C= ENSP00000514757.1:p.Gln156=
ENST00000700022.1:c.493-5717C= ENSP00000514758.1:n.493-5717C=
ENST00000700023.1:n.1669C=
ENST00000700024.1:n.1903C=
ENST00000700025.1:n.1280C=
ENST00000700029.1:c.345C=
ENST00000700029.2:c.511C= ENSP00000514759.2:p.Gln171=
ENST00000706954.1:c.511C= ENSP00000516674.1:p.Gln171=
ENST00000706955.1:c.*546C= ENSP00000516675.1:n.*546C=
ENST00000710265.1:c.511C= ENSP00000518161.1:p.Gln171=
XM_006717926.2:c.466C= XP_006717989.1:p.Gln156=
XM_011539981.1:c.511C= XP_011538283.1:p.Gln171=
XM_011539982.1:c.415C= XP_011538284.1:p.Gln139=
XR_945789.1:n.1382C=
XR_945790.1:n.1499C=
XR_945791.1:n.1205-5717C=