Canonical Allele Identifier: CA000575
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 140807
ClinVar RCV Id: RCV000128990 RCV000758226
dbSNP Id: rs587781291
MyVariant Identifiers: chr10:g.89624325C>G (hg19) chr10:g.87864568C>G (hg38)
ERepo: CA000575/MONDO:0017623/003
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87864568C>G , CM000672.2:g.87864568C>G GRCh38
NC_000010.10:g.89624325C>G , CM000672.1:g.89624325C>G GRCh37
NC_000010.9:g.89614305C>G NCBI36
NG_007466.2:g.6130C>G , LRG_311:g.6130C>G
NG_033079.1:g.3870G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.79+20C>G ENSP00000514759.2:n.79+20C>G
ENST00000710265.1:c.79+20C>G ENSP00000518161.1:n.79+20C>G
ENST00000472832.3:c.79+20C>G ENSP00000483066.2:n.79+20C>G
ENST00000688922.2:c.79+20C>G ENSP00000508742.2:n.79+20C>G
ENST00000700021.1:c.79+20C>G ENSP00000514757.1:n.79+20C>G
ENST00000700022.1:c.79+20C>G ENSP00000514758.1:n.79+20C>G
ENST00000706954.1:c.79+20C>G ENSP00000516674.1:n.79+20C>G
ENST00000706955.1:c.79+20C>G ENSP00000516675.1:n.79+20C>G
ENST00000686459.1:c.79+20C>G ENSP00000508909.1:n.79+20C>G
ENST00000688158.1:c.79+20C>G ENSP00000509254.1:n.79+20C>G
ENST00000688308.1:c.79+20C>G ENSP00000508752.1:n.79+20C>G
ENST00000693560.1:c.598+20C>G ENSP00000509861.1:n.598+20C>G
ENST00000371953.8:c.79+20C>G MANE Select ENSP00000361021.3:n.79+20C>G
ENST00000371953.7:c.79+20C>G ENSP00000361021.3:n.79+20C>G
ENST00000462694.1:n.81+20C>G
ENST00000487939.1:n.100+20C>G
ENST00000610634.1:c.-24+20C>G ENSP00000477517.1:n.-24+20C>G
ENST00000618586.1:n.68C>G
NM_000314.5:c.79+20C>G NP_000305.3:n.79+20C>G
NM_000314.6:c.79+20C>G NP_000305.3:n.79+20C>G
NM_001304717.2:c.598+20C>G NP_001291646.2:n.598+20C>G
NM_001304718.1:c.-627+20C>G NP_001291647.1:n.-627+20C>G
XM_006717926.2:c.79+20C>G XP_006717989.1:n.79+20C>G
XM_011539981.1:c.79+20C>G XP_011538283.1:n.79+20C>G
XR_945789.1:n.791+20C>G
XR_945790.1:n.791+20C>G
XR_945791.1:n.791+20C>G
NM_000314.7:c.79+20C>G NP_000305.3:n.79+20C>G
NM_001304717.5:c.598+20C>G NP_001291646.4:n.598+20C>G
NM_001304718.2:c.-627+20C>G NP_001291647.1:n.-627+20C>G
NM_000314.8:c.79+20C>G MANE Select NP_000305.3:n.79+20C>G
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