Canonical Allele Identifier: CA377484760
Gene: PTEN HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.640C>A ENSP00000514759.2:p.Gln214Lys
ENST00000710265.1:c.640C>A ENSP00000518161.1:p.Gln214Lys
ENST00000472832.3:c.640C>A ENSP00000483066.2:p.Gln214Lys
ENST00000688158.2:n.1375C>A
ENST00000688922.2:c.*470C>A ENSP00000508742.2:n.*470C>A
ENST00000700021.1:c.595C>A ENSP00000514757.1:p.Gln199Lys
ENST00000700022.1:c.498C>A ENSP00000514758.1:p.Leu166=
ENST00000700023.1:n.1798C>A
ENST00000700024.1:n.2032C>A
ENST00000700025.1:n.1409C>A
ENST00000700026.1:n.277C>A
ENST00000700029.1:c.474C>A
ENST00000706954.1:c.640C>A ENSP00000516674.1:p.Gln214Lys
ENST00000706955.1:c.*675C>A ENSP00000516675.1:n.*675C>A
ENST00000686459.1:c.*226C>A ENSP00000508909.1:n.*226C>A
ENST00000688158.1:c.*751C>A ENSP00000509254.1:n.*751C>A
ENST00000688308.1:c.640C>A ENSP00000508752.1:p.Gln214Lys
ENST00000688922.1:c.561C>A
ENST00000693560.1:c.1159C>A ENSP00000509861.1:p.Gln387Lys
ENST00000371953.8:c.640C>A MANE Select ENSP00000361021.3:p.Gln214Lys
ENST00000371953.7:c.640C>A ENSP00000361021.3:p.Gln214Lys
ENST00000472832.2:c.67C>A ENSP00000483066.1:p.Gln23Lys
NM_000314.5:c.640C>A NP_000305.3:p.Gln214Lys
NM_000314.6:c.640C>A NP_000305.3:p.Gln214Lys
NM_001304717.2:c.1159C>A NP_001291646.2:p.Gln387Lys
NM_001304718.1:c.49C>A NP_001291647.1:p.Gln17Lys
XM_006717926.2:c.595C>A XP_006717989.1:p.Gln199Lys
XM_011539981.1:c.640C>A XP_011538283.1:p.Gln214Lys
XM_011539982.1:c.544C>A XP_011538284.1:p.Gln182Lys
XR_945791.1:n.1210C>A
NM_000314.7:c.640C>A NP_000305.3:p.Gln214Lys
NM_001304717.5:c.1159C>A NP_001291646.4:p.Gln387Lys
NM_001304718.2:c.49C>A NP_001291647.1:p.Gln17Lys
NM_000314.8:c.640C>A MANE Select NP_000305.3:p.Gln214Lys