Canonical Allele Identifier: CA377484619
Gene: PTEN HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87952230C>G , CM000672.2:g.87952230C>G GRCh38
NC_000010.10:g.89711987C>G , CM000672.1:g.89711987C>G GRCh37
NC_000010.9:g.89701967C>G NCBI36
NG_007466.2:g.93792C>G , LRG_311:g.93792C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.605C>G ENSP00000514759.2:p.Thr202Ser
ENST00000710265.1:c.605C>G ENSP00000518161.1:p.Thr202Ser
ENST00000472832.3:c.605C>G ENSP00000483066.2:p.Thr202Ser
ENST00000688158.2:n.1340C>G
ENST00000688922.2:c.*435C>G ENSP00000508742.2:n.*435C>G
ENST00000700021.1:c.560C>G ENSP00000514757.1:p.Thr187Ser
ENST00000700022.1:c.493-5623C>G ENSP00000514758.1:n.493-5623C>G
ENST00000700023.1:n.1763C>G
ENST00000700024.1:n.1997C>G
ENST00000700025.1:n.1374C>G
ENST00000700029.1:c.439C>G
ENST00000706954.1:c.605C>G ENSP00000516674.1:p.Thr202Ser
ENST00000706955.1:c.*640C>G ENSP00000516675.1:n.*640C>G
ENST00000686459.1:c.*191C>G ENSP00000508909.1:n.*191C>G
ENST00000688158.1:c.*716C>G ENSP00000509254.1:n.*716C>G
ENST00000688308.1:c.605C>G ENSP00000508752.1:p.Thr202Ser
ENST00000688922.1:c.526C>G
ENST00000693560.1:c.1124C>G ENSP00000509861.1:p.Thr375Ser
ENST00000371953.8:c.605C>G MANE Select ENSP00000361021.3:p.Thr202Ser
ENST00000371953.7:c.605C>G ENSP00000361021.3:p.Thr202Ser
ENST00000472832.2:c.32C>G ENSP00000483066.1:p.Thr11Ser
NM_000314.5:c.605C>G NP_000305.3:p.Thr202Ser
NM_000314.6:c.605C>G NP_000305.3:p.Thr202Ser
NM_001304717.2:c.1124C>G NP_001291646.2:p.Thr375Ser
NM_001304718.1:c.14C>G NP_001291647.1:p.Thr5Ser
XM_006717926.2:c.560C>G XP_006717989.1:p.Thr187Ser
XM_011539981.1:c.605C>G XP_011538283.1:p.Thr202Ser
XM_011539982.1:c.509C>G XP_011538284.1:p.Thr170Ser
XR_945791.1:n.1205-5623C>G
NM_000314.7:c.605C>G NP_000305.3:p.Thr202Ser
NM_001304717.5:c.1124C>G NP_001291646.4:p.Thr375Ser
NM_001304718.2:c.14C>G NP_001291647.1:p.Thr5Ser
NM_000314.8:c.605C>G MANE Select NP_000305.3:p.Thr202Ser