Canonical Allele Identifier: CA377485020
Gene: PTEN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957980A>T , CM000672.2:g.87957980A>T GRCh38
NC_000010.10:g.89717737A>T , CM000672.1:g.89717737A>T GRCh37
NC_000010.9:g.89707717A>T NCBI36
NG_007466.2:g.99542A>T , LRG_311:g.99542A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.762A>T ENSP00000514759.2:p.Lys254Asn
ENST00000710265.1:c.762A>T ENSP00000518161.1:p.Lys254Asn
ENST00000472832.3:c.762A>T ENSP00000483066.2:p.Lys254Asn
ENST00000688158.2:n.1497A>T
ENST00000688922.2:c.*592A>T ENSP00000508742.2:n.*592A>T
ENST00000700021.1:c.717A>T ENSP00000514757.1:p.Lys239Asn
ENST00000700022.1:c.*101A>T ENSP00000514758.1:n.*101A>T
ENST00000700023.1:n.1920A>T
ENST00000700024.1:n.2154A>T
ENST00000700025.1:n.1531A>T
ENST00000700026.1:n.399A>T
ENST00000700029.1:c.596A>T
ENST00000706954.1:c.762A>T ENSP00000516674.1:p.Lys254Asn
ENST00000706955.1:c.*797A>T ENSP00000516675.1:n.*797A>T
ENST00000686459.1:c.*348A>T ENSP00000508909.1:n.*348A>T
ENST00000688158.1:c.*873A>T ENSP00000509254.1:n.*873A>T
ENST00000688308.1:c.762A>T ENSP00000508752.1:p.Lys254Asn
ENST00000688922.1:c.683A>T
ENST00000693560.1:c.1281A>T ENSP00000509861.1:p.Lys427Asn
ENST00000371953.8:c.762A>T MANE Select ENSP00000361021.3:p.Lys254Asn
ENST00000371953.7:c.762A>T ENSP00000361021.3:p.Lys254Asn
ENST00000472832.2:c.189A>T ENSP00000483066.1:p.Lys63Asn
NM_000314.5:c.762A>T NP_000305.3:p.Lys254Asn
NM_000314.6:c.762A>T NP_000305.3:p.Lys254Asn
NM_001304717.2:c.1281A>T NP_001291646.2:p.Lys427Asn
NM_001304718.1:c.171A>T NP_001291647.1:p.Lys57Asn
XM_006717926.2:c.717A>T XP_006717989.1:p.Lys239Asn
XM_011539981.1:c.762A>T XP_011538283.1:p.Lys254Asn
XM_011539982.1:c.666A>T XP_011538284.1:p.Lys222Asn
XR_945791.1:n.1332A>T
NM_000314.7:c.762A>T NP_000305.3:p.Lys254Asn
NM_001304717.5:c.1281A>T NP_001291646.4:p.Lys427Asn
NM_001304718.2:c.171A>T NP_001291647.1:p.Lys57Asn
NM_000314.8:c.762A>T MANE Select NP_000305.3:p.Lys254Asn