Canonical Allele Identifier: CA377484972
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 428210
dbSNP Id: rs1057519368

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957958T>G , CM000672.2:g.87957958T>G GRCh38
NC_000010.10:g.89717715T>G , CM000672.1:g.89717715T>G GRCh37
NC_000010.9:g.89707695T>G NCBI36
NG_007466.2:g.99520T>G , LRG_311:g.99520T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000700029.2:c.740T>G ENSP00000514759.2:p.Leu247Ter
ENST00000710265.1:c.740T>G ENSP00000518161.1:p.Leu247Ter
ENST00000472832.3:c.740T>G ENSP00000483066.2:p.Leu247Ter
ENST00000688158.2:n.1475T>G
ENST00000688922.2:c.*570T>G ENSP00000508742.2:n.*570T>G
ENST00000700021.1:c.695T>G ENSP00000514757.1:p.Leu232Ter
ENST00000700022.1:c.*79T>G ENSP00000514758.1:n.*79T>G
ENST00000700023.1:n.1898T>G
ENST00000700024.1:n.2132T>G
ENST00000700025.1:n.1509T>G
ENST00000700026.1:n.377T>G
ENST00000700029.1:c.574T>G
ENST00000706954.1:c.740T>G ENSP00000516674.1:p.Leu247Ter
ENST00000706955.1:c.*775T>G ENSP00000516675.1:n.*775T>G
ENST00000686459.1:c.*326T>G ENSP00000508909.1:n.*326T>G
ENST00000688158.1:c.*851T>G ENSP00000509254.1:n.*851T>G
ENST00000688308.1:c.740T>G ENSP00000508752.1:p.Leu247Ter
ENST00000688922.1:c.661T>G
ENST00000693560.1:c.1259T>G ENSP00000509861.1:p.Leu420Ter
ENST00000371953.8:c.740T>G MANE Select ENSP00000361021.3:p.Leu247Ter
ENST00000371953.7:c.740T>G ENSP00000361021.3:p.Leu247Ter
ENST00000472832.2:c.167T>G ENSP00000483066.1:p.Leu56Ter
NM_000314.5:c.740T>G NP_000305.3:p.Leu247Ter
NM_000314.6:c.740T>G NP_000305.3:p.Leu247Ter
NM_001304717.2:c.1259T>G NP_001291646.2:p.Leu420Ter
NM_001304718.1:c.149T>G NP_001291647.1:p.Leu50Ter
XM_006717926.2:c.695T>G XP_006717989.1:p.Leu232Ter
XM_011539981.1:c.740T>G XP_011538283.1:p.Leu247Ter
XM_011539982.1:c.644T>G XP_011538284.1:p.Leu215Ter
XR_945791.1:n.1310T>G
NM_000314.7:c.740T>G NP_000305.3:p.Leu247Ter
NM_001304717.5:c.1259T>G NP_001291646.4:p.Leu420Ter
NM_001304718.2:c.149T>G NP_001291647.1:p.Leu50Ter
NM_000314.8:c.740T>G MANE Select NP_000305.3:p.Leu247Ter