Canonical Allele Identifier: CA1926188496
Community Standard Title: NM_000314.8(PTEN):c.640C= (p.Gln214=)
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957858C= , CM000672.2:g.87957858C= GRCh38
NC_000010.10:g.89717615C= , CM000672.1:g.89717615C= GRCh37
NC_000010.9:g.89707595C= NCBI36
NG_007466.2:g.99420C= , LRG_311:g.99420C=

Transcript Alleles

HGVS Amino-acid Change
NM_000314.8:c.640C= MANE Select NP_000305.3:p.Gln214=
ENST00000371953.8:c.640C= MANE Select ENSP00000361021.3:p.Gln214=
NM_000314.5:c.640C= NP_000305.3:p.Gln214=
NM_000314.6:c.640C= NP_000305.3:p.Gln214=
NM_000314.7:c.640C= NP_000305.3:p.Gln214=
NM_001304717.2:c.1159C= NP_001291646.2:p.Gln387=
NM_001304717.5:c.1159C= NP_001291646.4:p.Gln387=
NM_001304718.1:c.49C= NP_001291647.1:p.Gln17=
NM_001304718.2:c.49C= NP_001291647.1:p.Gln17=
ENST00000371953.7:c.640C= ENSP00000361021.3:p.Gln214=
ENST00000472832.2:c.67C= ENSP00000483066.1:p.Gln23=
ENST00000472832.3:c.640C= ENSP00000483066.2:p.Gln214=
ENST00000686459.1:c.*226C= ENSP00000508909.1:n.*226C=
ENST00000688158.1:c.*751C= ENSP00000509254.1:n.*751C=
ENST00000688158.2:n.1375C=
ENST00000688308.1:c.640C= ENSP00000508752.1:p.Gln214=
ENST00000688922.1:c.561C=
ENST00000688922.2:c.*470C= ENSP00000508742.2:n.*470C=
ENST00000693560.1:c.1159C= ENSP00000509861.1:p.Gln387=
ENST00000700021.1:c.595C= ENSP00000514757.1:p.Gln199=
ENST00000700022.1:c.498C= ENSP00000514758.1:p.Leu166=
ENST00000700023.1:n.1798C=
ENST00000700024.1:n.2032C=
ENST00000700025.1:n.1409C=
ENST00000700026.1:n.277C=
ENST00000700029.1:c.474C=
ENST00000700029.2:c.640C= ENSP00000514759.2:p.Gln214=
ENST00000706954.1:c.640C= ENSP00000516674.1:p.Gln214=
ENST00000706955.1:c.*675C= ENSP00000516675.1:n.*675C=
ENST00000710265.1:c.640C= ENSP00000518161.1:p.Gln214=
XM_006717926.2:c.595C= XP_006717989.1:p.Gln199=
XM_011539981.1:c.640C= XP_011538283.1:p.Gln214=
XM_011539982.1:c.544C= XP_011538284.1:p.Gln182=
XR_945791.1:n.1210C=