Canonical Allele Identifier: CA377484465
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 492733
dbSNP Id: rs1554900615
COSMIC: COSM5308

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87952190A>T , CM000672.2:g.87952190A>T GRCh38
NC_000010.10:g.89711947A>T , CM000672.1:g.89711947A>T GRCh37
NC_000010.9:g.89701927A>T NCBI36
NG_007466.2:g.93752A>T , LRG_311:g.93752A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.565A>T ENSP00000514759.2:p.Arg189Ter
ENST00000710265.1:c.565A>T ENSP00000518161.1:p.Arg189Ter
ENST00000472832.3:c.565A>T ENSP00000483066.2:p.Arg189Ter
ENST00000688158.2:n.1300A>T
ENST00000688922.2:c.*395A>T ENSP00000508742.2:n.*395A>T
ENST00000700021.1:c.520A>T ENSP00000514757.1:p.Arg174Ter
ENST00000700022.1:c.493-5663A>T ENSP00000514758.1:n.493-5663A>T
ENST00000700023.1:n.1723A>T
ENST00000700024.1:n.1957A>T
ENST00000700025.1:n.1334A>T
ENST00000700029.1:c.399A>T
ENST00000706954.1:c.565A>T ENSP00000516674.1:p.Arg189Ter
ENST00000706955.1:c.*600A>T ENSP00000516675.1:n.*600A>T
ENST00000686459.1:c.*151A>T ENSP00000508909.1:n.*151A>T
ENST00000688158.1:c.*676A>T ENSP00000509254.1:n.*676A>T
ENST00000688308.1:c.565A>T ENSP00000508752.1:p.Arg189Ter
ENST00000688922.1:c.486A>T
ENST00000693560.1:c.1084A>T ENSP00000509861.1:p.Arg362Ter
ENST00000371953.8:c.565A>T MANE Select ENSP00000361021.3:p.Arg189Ter
ENST00000371953.7:c.565A>T ENSP00000361021.3:p.Arg189Ter
NM_000314.5:c.565A>T NP_000305.3:p.Arg189Ter
NM_000314.6:c.565A>T NP_000305.3:p.Arg189Ter
NM_001304717.2:c.1084A>T NP_001291646.2:p.Arg362Ter
NM_001304718.1:c.-27A>T NP_001291647.1:n.-27A>T
XM_006717926.2:c.520A>T XP_006717989.1:p.Arg174Ter
XM_011539981.1:c.565A>T XP_011538283.1:p.Arg189Ter
XM_011539982.1:c.469A>T XP_011538284.1:p.Arg157Ter
XR_945791.1:n.1205-5663A>T
NM_000314.7:c.565A>T NP_000305.3:p.Arg189Ter
NM_001304717.5:c.1084A>T NP_001291646.4:p.Arg362Ter
NM_001304718.2:c.-27A>T NP_001291647.1:n.-27A>T
NM_000314.8:c.565A>T MANE Select NP_000305.3:p.Arg189Ter