Canonical Allele Identifier: CA000175
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 186153
dbSNP Id: rs786202733
COSMIC: COSM36367

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87952165C>G , CM000672.2:g.87952165C>G GRCh38
NC_000010.10:g.89711922C>G , CM000672.1:g.89711922C>G GRCh37
NC_000010.9:g.89701902C>G NCBI36
NG_007466.2:g.93727C>G , LRG_311:g.93727C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.540C>G ENSP00000514759.2:p.Tyr180Ter
ENST00000710265.1:c.540C>G ENSP00000518161.1:p.Tyr180Ter
ENST00000472832.3:c.540C>G ENSP00000483066.2:p.Tyr180Ter
ENST00000688158.2:n.1275C>G
ENST00000688922.2:c.*370C>G ENSP00000508742.2:n.*370C>G
ENST00000700021.1:c.495C>G ENSP00000514757.1:p.Tyr165Ter
ENST00000700022.1:c.493-5688C>G ENSP00000514758.1:n.493-5688C>G
ENST00000700023.1:n.1698C>G
ENST00000700024.1:n.1932C>G
ENST00000700025.1:n.1309C>G
ENST00000700029.1:c.374C>G
ENST00000706954.1:c.540C>G ENSP00000516674.1:p.Tyr180Ter
ENST00000706955.1:c.*575C>G ENSP00000516675.1:n.*575C>G
ENST00000686459.1:c.*126C>G ENSP00000508909.1:n.*126C>G
ENST00000688158.1:c.*651C>G ENSP00000509254.1:n.*651C>G
ENST00000688308.1:c.540C>G ENSP00000508752.1:p.Tyr180Ter
ENST00000688922.1:c.461C>G
ENST00000693560.1:c.1059C>G ENSP00000509861.1:p.Tyr353Ter
ENST00000371953.8:c.540C>G MANE Select ENSP00000361021.3:p.Tyr180Ter
ENST00000371953.7:c.540C>G ENSP00000361021.3:p.Tyr180Ter
NM_000314.5:c.540C>G NP_000305.3:p.Tyr180Ter
NM_000314.6:c.540C>G NP_000305.3:p.Tyr180Ter
NM_001304717.2:c.1059C>G NP_001291646.2:p.Tyr353Ter
NM_001304718.1:c.-52C>G NP_001291647.1:n.-52C>G
XM_006717926.2:c.495C>G XP_006717989.1:p.Tyr165Ter
XM_011539981.1:c.540C>G XP_011538283.1:p.Tyr180Ter
XM_011539982.1:c.444C>G XP_011538284.1:p.Tyr148Ter
XR_945789.1:n.1411C>G
XR_945790.1:n.1528C>G
XR_945791.1:n.1205-5688C>G
NM_000314.7:c.540C>G NP_000305.3:p.Tyr180Ter
NM_001304717.5:c.1059C>G NP_001291646.4:p.Tyr353Ter
NM_001304718.2:c.-52C>G NP_001291647.1:n.-52C>G
NM_000314.8:c.540C>G MANE Select NP_000305.3:p.Tyr180Ter