Canonical Allele Identifier: CA377485969
Gene: PTEN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87961042T>G , CM000672.2:g.87961042T>G GRCh38
NC_000010.10:g.89720799T>G , CM000672.1:g.89720799T>G GRCh37
NC_000010.9:g.89710779T>G NCBI36
NG_007466.2:g.102604T>G , LRG_311:g.102604T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1043T>G ENSP00000514759.2:p.Val348Gly
ENST00000710265.1:c.950T>G ENSP00000518161.1:p.Val317Gly
ENST00000472832.3:c.950T>G ENSP00000483066.2:p.Val317Gly
ENST00000688158.2:n.1685T>G
ENST00000688922.2:c.*780T>G ENSP00000508742.2:n.*780T>G
ENST00000700021.1:c.905T>G ENSP00000514757.1:p.Val302Gly
ENST00000700022.1:c.*289T>G ENSP00000514758.1:n.*289T>G
ENST00000700023.1:n.2108T>G
ENST00000700024.1:n.2342T>G
ENST00000700025.1:n.1719T>G
ENST00000700026.1:n.587T>G
ENST00000706954.1:c.950T>G ENSP00000516674.1:p.Val317Gly
ENST00000706955.1:c.*985T>G ENSP00000516675.1:n.*985T>G
ENST00000686459.1:c.*536T>G ENSP00000508909.1:n.*536T>G
ENST00000688158.1:c.*1061T>G ENSP00000509254.1:n.*1061T>G
ENST00000688308.1:c.950T>G ENSP00000508752.1:p.Val317Gly
ENST00000688922.1:c.871T>G
ENST00000693560.1:c.1469T>G ENSP00000509861.1:p.Val490Gly
ENST00000371953.8:c.950T>G MANE Select ENSP00000361021.3:p.Val317Gly
ENST00000371953.7:c.950T>G ENSP00000361021.3:p.Val317Gly
ENST00000472832.2:c.377T>G ENSP00000483066.1:p.Val126Gly
NM_000314.5:c.950T>G NP_000305.3:p.Val317Gly
NM_000314.6:c.950T>G NP_000305.3:p.Val317Gly
NM_001304717.2:c.1469T>G NP_001291646.2:p.Val490Gly
NM_001304718.1:c.359T>G NP_001291647.1:p.Val120Gly
XM_006717926.2:c.905T>G XP_006717989.1:p.Val302Gly
XM_011539981.1:c.950T>G XP_011538283.1:p.Val317Gly
XM_011539982.1:c.854T>G XP_011538284.1:p.Val285Gly
XR_945791.1:n.1520T>G
NM_000314.7:c.950T>G NP_000305.3:p.Val317Gly
NM_001304717.5:c.1469T>G NP_001291646.4:p.Val490Gly
NM_001304718.2:c.359T>G NP_001291647.1:p.Val120Gly
NM_000314.8:c.950T>G MANE Select NP_000305.3:p.Val317Gly