Canonical Allele Identifier: CA377485629
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 536547
dbSNP Id: rs1554825526

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87960951T>C , CM000672.2:g.87960951T>C GRCh38
NC_000010.10:g.89720708T>C , CM000672.1:g.89720708T>C GRCh37
NC_000010.9:g.89710688T>C NCBI36
NG_007466.2:g.102513T>C , LRG_311:g.102513T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.952T>C ENSP00000514759.2:p.Ser318Pro
ENST00000710265.1:c.859T>C ENSP00000518161.1:p.Ser287Pro
ENST00000472832.3:c.859T>C ENSP00000483066.2:p.Ser287Pro
ENST00000688158.2:n.1594T>C
ENST00000688922.2:c.*689T>C ENSP00000508742.2:n.*689T>C
ENST00000700021.1:c.814T>C ENSP00000514757.1:p.Ser272Pro
ENST00000700022.1:c.*198T>C ENSP00000514758.1:n.*198T>C
ENST00000700023.1:n.2017T>C
ENST00000700024.1:n.2251T>C
ENST00000700025.1:n.1628T>C
ENST00000700026.1:n.496T>C
ENST00000700029.1:c.786T>C
ENST00000706954.1:c.859T>C ENSP00000516674.1:p.Ser287Pro
ENST00000706955.1:c.*894T>C ENSP00000516675.1:n.*894T>C
ENST00000686459.1:c.*445T>C ENSP00000508909.1:n.*445T>C
ENST00000688158.1:c.*970T>C ENSP00000509254.1:n.*970T>C
ENST00000688308.1:c.859T>C ENSP00000508752.1:p.Ser287Pro
ENST00000688922.1:c.780T>C
ENST00000693560.1:c.1378T>C ENSP00000509861.1:p.Ser460Pro
ENST00000371953.8:c.859T>C MANE Select ENSP00000361021.3:p.Ser287Pro
ENST00000371953.7:c.859T>C ENSP00000361021.3:p.Ser287Pro
ENST00000472832.2:c.286T>C ENSP00000483066.1:p.Ser96Pro
NM_000314.5:c.859T>C NP_000305.3:p.Ser287Pro
NM_000314.6:c.859T>C NP_000305.3:p.Ser287Pro
NM_001304717.2:c.1378T>C NP_001291646.2:p.Ser460Pro
NM_001304718.1:c.268T>C NP_001291647.1:p.Ser90Pro
XM_006717926.2:c.814T>C XP_006717989.1:p.Ser272Pro
XM_011539981.1:c.859T>C XP_011538283.1:p.Ser287Pro
XM_011539982.1:c.763T>C XP_011538284.1:p.Ser255Pro
XR_945791.1:n.1429T>C
NM_000314.7:c.859T>C NP_000305.3:p.Ser287Pro
NM_001304717.5:c.1378T>C NP_001291646.4:p.Ser460Pro
NM_001304718.2:c.268T>C NP_001291647.1:p.Ser90Pro
NM_000314.8:c.859T>C MANE Select NP_000305.3:p.Ser287Pro