Canonical Allele Identifier: CA377785061
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 536540
ClinVar RCV Id: RCV000645035
dbSNP Id: rs398123317

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87925550T>G , CM000672.2:g.87925550T>G GRCh38
NC_000010.10:g.89685307T>G , CM000672.1:g.89685307T>G GRCh37
NC_000010.9:g.89675287T>G NCBI36
NG_007466.2:g.67112T>G , LRG_311:g.67112T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000700029.2:c.202T>G ENSP00000514759.2:p.Tyr68Asp
ENST00000710265.1:c.202T>G ENSP00000518161.1:p.Tyr68Asp
ENST00000472832.3:c.202T>G ENSP00000483066.2:p.Tyr68Asp
ENST00000688158.2:n.937T>G
ENST00000688922.2:c.202T>G ENSP00000508742.2:p.Tyr68Asp
ENST00000700021.1:c.165-5496T>G ENSP00000514757.1:n.165-5496T>G
ENST00000700022.1:c.202T>G ENSP00000514758.1:p.Tyr68Asp
ENST00000700029.1:c.36T>G
ENST00000706954.1:c.202T>G ENSP00000516674.1:p.Tyr68Asp
ENST00000706955.1:c.*237T>G ENSP00000516675.1:n.*237T>G
ENST00000686459.1:c.202T>G ENSP00000508909.1:p.Tyr68Asp
ENST00000688158.1:c.*313T>G ENSP00000509254.1:n.*313T>G
ENST00000688308.1:c.202T>G ENSP00000508752.1:p.Tyr68Asp
ENST00000688922.1:c.71T>G
ENST00000693560.1:c.721T>G ENSP00000509861.1:p.Tyr241Asp
ENST00000371953.8:c.202T>G MANE Select ENSP00000361021.3:p.Tyr68Asp
ENST00000371953.7:c.202T>G ENSP00000361021.3:p.Tyr68Asp
ENST00000498703.1:n.28T>G
ENST00000610634.1:c.100T>G ENSP00000477517.1:p.Tyr34Asp
NM_000314.5:c.202T>G NP_000305.3:p.Tyr68Asp
NM_000314.6:c.202T>G NP_000305.3:p.Tyr68Asp
NM_001304717.2:c.721T>G NP_001291646.2:p.Tyr241Asp
NM_001304718.1:c.-541-5496T>G NP_001291647.1:n.-541-5496T>G
XM_006717926.2:c.165-5496T>G XP_006717989.1:n.165-5496T>G
XM_011539981.1:c.202T>G XP_011538283.1:p.Tyr68Asp
XM_011539982.1:c.106T>G XP_011538284.1:p.Tyr36Asp
XR_945789.1:n.914T>G
XR_945790.1:n.914T>G
XR_945791.1:n.914T>G
NM_000314.7:c.202T>G NP_000305.3:p.Tyr68Asp
NM_001304717.5:c.721T>G NP_001291646.4:p.Tyr241Asp
NM_001304718.2:c.-541-5496T>G NP_001291647.1:n.-541-5496T>G
NM_000314.8:c.202T>G MANE Select NP_000305.3:p.Tyr68Asp