Canonical Allele Identifier: CA470669892
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 468712
ClinVar RCV Id: RCV000532771
dbSNP Id: rs1554825232

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957971T>A , CM000672.2:g.87957971T>A GRCh38
NC_000010.10:g.89717728T>A , CM000672.1:g.89717728T>A GRCh37
NC_000010.9:g.89707708T>A NCBI36
NG_007466.2:g.99533T>A , LRG_311:g.99533T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.753T>A ENSP00000514759.2:p.Gly251=
ENST00000710265.1:c.753T>A ENSP00000518161.1:p.Gly251=
ENST00000472832.3:c.753T>A ENSP00000483066.2:p.Gly251=
ENST00000688158.2:n.1488T>A
ENST00000688922.2:c.*583T>A ENSP00000508742.2:n.*583T>A
ENST00000700021.1:c.708T>A ENSP00000514757.1:p.Gly236=
ENST00000700022.1:c.*92T>A ENSP00000514758.1:n.*92T>A
ENST00000700023.1:n.1911T>A
ENST00000700024.1:n.2145T>A
ENST00000700025.1:n.1522T>A
ENST00000700026.1:n.390T>A
ENST00000700029.1:c.587T>A
ENST00000706954.1:c.753T>A ENSP00000516674.1:p.Gly251=
ENST00000706955.1:c.*788T>A ENSP00000516675.1:n.*788T>A
ENST00000686459.1:c.*339T>A ENSP00000508909.1:n.*339T>A
ENST00000688158.1:c.*864T>A ENSP00000509254.1:n.*864T>A
ENST00000688308.1:c.753T>A ENSP00000508752.1:p.Gly251=
ENST00000688922.1:c.674T>A
ENST00000693560.1:c.1272T>A ENSP00000509861.1:p.Gly424=
ENST00000371953.8:c.753T>A MANE Select ENSP00000361021.3:p.Gly251=
ENST00000371953.7:c.753T>A ENSP00000361021.3:p.Gly251=
ENST00000472832.2:c.180T>A ENSP00000483066.1:p.Gly60=
NM_000314.5:c.753T>A NP_000305.3:p.Gly251=
NM_000314.6:c.753T>A NP_000305.3:p.Gly251=
NM_001304717.2:c.1272T>A NP_001291646.2:p.Gly424=
NM_001304718.1:c.162T>A NP_001291647.1:p.Gly54=
XM_006717926.2:c.708T>A XP_006717989.1:p.Gly236=
XM_011539981.1:c.753T>A XP_011538283.1:p.Gly251=
XM_011539982.1:c.657T>A XP_011538284.1:p.Gly219=
XR_945791.1:n.1323T>A
NM_000314.7:c.753T>A NP_000305.3:p.Gly251=
NM_001304717.5:c.1272T>A NP_001291646.4:p.Gly424=
NM_001304718.2:c.162T>A NP_001291647.1:p.Gly54=
NM_000314.8:c.753T>A MANE Select NP_000305.3:p.Gly251=