Canonical Allele Identifier: CA377484262
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 591816
dbSNP Id: rs1564837747

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87952130C>G , CM000672.2:g.87952130C>G GRCh38
NC_000010.10:g.89711887C>G , CM000672.1:g.89711887C>G GRCh37
NC_000010.9:g.89701867C>G NCBI36
NG_007466.2:g.93692C>G , LRG_311:g.93692C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.505C>G ENSP00000514759.2:p.Pro169Ala
ENST00000710265.1:c.505C>G ENSP00000518161.1:p.Pro169Ala
ENST00000472832.3:c.505C>G ENSP00000483066.2:p.Pro169Ala
ENST00000688158.2:n.1240C>G
ENST00000688922.2:c.*335C>G ENSP00000508742.2:n.*335C>G
ENST00000700021.1:c.460C>G ENSP00000514757.1:p.Pro154Ala
ENST00000700022.1:c.493-5723C>G ENSP00000514758.1:n.493-5723C>G
ENST00000700023.1:n.1663C>G
ENST00000700024.1:n.1897C>G
ENST00000700025.1:n.1274C>G
ENST00000700029.1:c.339C>G
ENST00000706954.1:c.505C>G ENSP00000516674.1:p.Pro169Ala
ENST00000706955.1:c.*540C>G ENSP00000516675.1:n.*540C>G
ENST00000686459.1:c.*91C>G ENSP00000508909.1:n.*91C>G
ENST00000688158.1:c.*616C>G ENSP00000509254.1:n.*616C>G
ENST00000688308.1:c.505C>G ENSP00000508752.1:p.Pro169Ala
ENST00000688922.1:c.426C>G
ENST00000693560.1:c.1024C>G ENSP00000509861.1:p.Pro342Ala
ENST00000371953.8:c.505C>G MANE Select ENSP00000361021.3:p.Pro169Ala
ENST00000371953.7:c.505C>G ENSP00000361021.3:p.Pro169Ala
NM_000314.5:c.505C>G NP_000305.3:p.Pro169Ala
NM_000314.6:c.505C>G NP_000305.3:p.Pro169Ala
NM_001304717.2:c.1024C>G NP_001291646.2:p.Pro342Ala
NM_001304718.1:c.-87C>G NP_001291647.1:n.-87C>G
XM_006717926.2:c.460C>G XP_006717989.1:p.Pro154Ala
XM_011539981.1:c.505C>G XP_011538283.1:p.Pro169Ala
XM_011539982.1:c.409C>G XP_011538284.1:p.Pro137Ala
XR_945789.1:n.1376C>G
XR_945790.1:n.1493C>G
XR_945791.1:n.1205-5723C>G
NM_000314.7:c.505C>G NP_000305.3:p.Pro169Ala
NM_001304717.5:c.1024C>G NP_001291646.4:p.Pro342Ala
NM_001304718.2:c.-87C>G NP_001291647.1:n.-87C>G
NM_000314.8:c.505C>G MANE Select NP_000305.3:p.Pro169Ala