Canonical Allele Identifier: CA377485013
Gene: PTEN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957978A>C , CM000672.2:g.87957978A>C GRCh38
NC_000010.10:g.89717735A>C , CM000672.1:g.89717735A>C GRCh37
NC_000010.9:g.89707715A>C NCBI36
NG_007466.2:g.99540A>C , LRG_311:g.99540A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.760A>C ENSP00000514759.2:p.Lys254Gln
ENST00000710265.1:c.760A>C ENSP00000518161.1:p.Lys254Gln
ENST00000472832.3:c.760A>C ENSP00000483066.2:p.Lys254Gln
ENST00000688158.2:n.1495A>C
ENST00000688922.2:c.*590A>C ENSP00000508742.2:n.*590A>C
ENST00000700021.1:c.715A>C ENSP00000514757.1:p.Lys239Gln
ENST00000700022.1:c.*99A>C ENSP00000514758.1:n.*99A>C
ENST00000700023.1:n.1918A>C
ENST00000700024.1:n.2152A>C
ENST00000700025.1:n.1529A>C
ENST00000700026.1:n.397A>C
ENST00000700029.1:c.594A>C
ENST00000706954.1:c.760A>C ENSP00000516674.1:p.Lys254Gln
ENST00000706955.1:c.*795A>C ENSP00000516675.1:n.*795A>C
ENST00000686459.1:c.*346A>C ENSP00000508909.1:n.*346A>C
ENST00000688158.1:c.*871A>C ENSP00000509254.1:n.*871A>C
ENST00000688308.1:c.760A>C ENSP00000508752.1:p.Lys254Gln
ENST00000688922.1:c.681A>C
ENST00000693560.1:c.1279A>C ENSP00000509861.1:p.Lys427Gln
ENST00000371953.8:c.760A>C MANE Select ENSP00000361021.3:p.Lys254Gln
ENST00000371953.7:c.760A>C ENSP00000361021.3:p.Lys254Gln
ENST00000472832.2:c.187A>C ENSP00000483066.1:p.Lys63Gln
NM_000314.5:c.760A>C NP_000305.3:p.Lys254Gln
NM_000314.6:c.760A>C NP_000305.3:p.Lys254Gln
NM_001304717.2:c.1279A>C NP_001291646.2:p.Lys427Gln
NM_001304718.1:c.169A>C NP_001291647.1:p.Lys57Gln
XM_006717926.2:c.715A>C XP_006717989.1:p.Lys239Gln
XM_011539981.1:c.760A>C XP_011538283.1:p.Lys254Gln
XM_011539982.1:c.664A>C XP_011538284.1:p.Lys222Gln
XR_945791.1:n.1330A>C
NM_000314.7:c.760A>C NP_000305.3:p.Lys254Gln
NM_001304717.5:c.1279A>C NP_001291646.4:p.Lys427Gln
NM_001304718.2:c.169A>C NP_001291647.1:p.Lys57Gln
NM_000314.8:c.760A>C MANE Select NP_000305.3:p.Lys254Gln