Canonical Allele Identifier: CA377484323
Gene: PTEN HGNC NCBI

Linked Data

dbSNP Id: rs2132269156

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87952149T>G , CM000672.2:g.87952149T>G GRCh38
NC_000010.10:g.89711906T>G , CM000672.1:g.89711906T>G GRCh37
NC_000010.9:g.89701886T>G NCBI36
NG_007466.2:g.93711T>G , LRG_311:g.93711T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.524T>G ENSP00000514759.2:p.Val175Gly
ENST00000710265.1:c.524T>G ENSP00000518161.1:p.Val175Gly
ENST00000472832.3:c.524T>G ENSP00000483066.2:p.Val175Gly
ENST00000688158.2:n.1259T>G
ENST00000688922.2:c.*354T>G ENSP00000508742.2:n.*354T>G
ENST00000700021.1:c.479T>G ENSP00000514757.1:p.Val160Gly
ENST00000700022.1:c.493-5704T>G ENSP00000514758.1:n.493-5704T>G
ENST00000700023.1:n.1682T>G
ENST00000700024.1:n.1916T>G
ENST00000700025.1:n.1293T>G
ENST00000700029.1:c.358T>G
ENST00000706954.1:c.524T>G ENSP00000516674.1:p.Val175Gly
ENST00000706955.1:c.*559T>G ENSP00000516675.1:n.*559T>G
ENST00000686459.1:c.*110T>G ENSP00000508909.1:n.*110T>G
ENST00000688158.1:c.*635T>G ENSP00000509254.1:n.*635T>G
ENST00000688308.1:c.524T>G ENSP00000508752.1:p.Val175Gly
ENST00000688922.1:c.445T>G
ENST00000693560.1:c.1043T>G ENSP00000509861.1:p.Val348Gly
ENST00000371953.8:c.524T>G MANE Select ENSP00000361021.3:p.Val175Gly
ENST00000371953.7:c.524T>G ENSP00000361021.3:p.Val175Gly
NM_000314.5:c.524T>G NP_000305.3:p.Val175Gly
NM_000314.6:c.524T>G NP_000305.3:p.Val175Gly
NM_001304717.2:c.1043T>G NP_001291646.2:p.Val348Gly
NM_001304718.1:c.-68T>G NP_001291647.1:n.-68T>G
XM_006717926.2:c.479T>G XP_006717989.1:p.Val160Gly
XM_011539981.1:c.524T>G XP_011538283.1:p.Val175Gly
XM_011539982.1:c.428T>G XP_011538284.1:p.Val143Gly
XR_945789.1:n.1395T>G
XR_945790.1:n.1512T>G
XR_945791.1:n.1205-5704T>G
NM_000314.7:c.524T>G NP_000305.3:p.Val175Gly
NM_001304717.5:c.1043T>G NP_001291646.4:p.Val348Gly
NM_001304718.2:c.-68T>G NP_001291647.1:n.-68T>G
NM_000314.8:c.524T>G MANE Select NP_000305.3:p.Val175Gly