Canonical Allele Identifier: CA377487221
Gene: PTEN HGNC NCBI

Linked Data

dbSNP Id: rs750585255

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87965348C>G , CM000672.2:g.87965348C>G GRCh38
NC_000010.10:g.89725105C>G , CM000672.1:g.89725105C>G GRCh37
NC_000010.9:g.89715085C>G NCBI36
NG_007466.2:g.106910C>G , LRG_311:g.106910C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1181C>G ENSP00000514759.2:p.Thr394Ser
ENST00000710265.1:c.*117C>G ENSP00000518161.1:n.*117C>G
ENST00000688158.2:n.1823C>G
ENST00000688922.2:c.*918C>G ENSP00000508742.2:n.*918C>G
ENST00000700021.1:c.1043C>G ENSP00000514757.1:p.Thr348Ser
ENST00000700022.1:c.*427C>G ENSP00000514758.1:n.*427C>G
ENST00000700023.1:n.2246C>G
ENST00000700024.1:n.2480C>G
ENST00000706954.1:c.1088C>G ENSP00000516674.1:p.Thr363Ser
ENST00000706955.1:c.*1123C>G ENSP00000516675.1:n.*1123C>G
ENST00000686459.1:c.*674C>G ENSP00000508909.1:n.*674C>G
ENST00000688158.1:c.*1199C>G ENSP00000509254.1:n.*1199C>G
ENST00000688308.1:c.1088C>G ENSP00000508752.1:p.Thr363Ser
ENST00000688922.1:c.1009C>G
ENST00000693560.1:c.1607C>G ENSP00000509861.1:p.Thr536Ser
ENST00000371953.8:c.1088C>G MANE Select ENSP00000361021.3:p.Thr363Ser
ENST00000371953.7:c.1088C>G ENSP00000361021.3:p.Thr363Ser
NM_000314.5:c.1088C>G NP_000305.3:p.Thr363Ser
NM_000314.6:c.1088C>G NP_000305.3:p.Thr363Ser
NM_001304717.2:c.1607C>G NP_001291646.2:p.Thr536Ser
NM_001304718.1:c.497C>G NP_001291647.1:p.Thr166Ser
XM_006717926.2:c.1043C>G XP_006717989.1:p.Thr348Ser
XM_011539982.1:c.992C>G XP_011538284.1:p.Thr331Ser
XR_945791.1:n.1658C>G
NM_000314.7:c.1088C>G NP_000305.3:p.Thr363Ser
NM_001304717.5:c.1607C>G NP_001291646.4:p.Thr536Ser
NM_001304718.2:c.497C>G NP_001291647.1:p.Thr166Ser
NM_000314.8:c.1088C>G MANE Select NP_000305.3:p.Thr363Ser