{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA377781896",
  "communityStandardTitle": [
    "NM_000314.8(PTEN):c.35A>T (p.Asn12Ile)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=925960[alleleid]",
        "alleleId": 925960,
        "preferredName": "NM_000314.8(PTEN):c.35A>T (p.Asn12Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/944445",
        "RCV": [
          "RCV001214844"
        ],
        "variationId": 944445
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.89624261A>T?assembly=hg19",
        "id": "chr10:g.89624261A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.87864504A>T?assembly=hg38",
        "id": "chr10:g.87864504A>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1085308044",
        "rs": 1085308044
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 87864504,
          "referenceAllele": "A",
          "start": 87864503
        }
      ],
      "hgvs": [
        "NC_000010.11:g.87864504A>T",
        "CM000672.2:g.87864504A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 89624261,
          "referenceAllele": "A",
          "start": 89624260
        }
      ],
      "hgvs": [
        "NC_000010.10:g.89624261A>T",
        "CM000672.1:g.89624261A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 89614241,
          "referenceAllele": "A",
          "start": 89614240
        }
      ],
      "hgvs": [
        "NC_000010.9:g.89614241A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6066,
          "referenceAllele": "A",
          "start": 6065
        }
      ],
      "hgvs": [
        "NG_007466.2:g.6066A>T",
        "LRG_311:g.6066A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000591"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3934,
          "referenceAllele": "T",
          "start": 3933
        }
      ],
      "hgvs": [
        "NG_033079.1:g.3934T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005411"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 880,
          "referenceAllele": "A",
          "start": 879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000700029.2:c.35A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514759.2:p.Asn12Ile",
        "hgvsWellDefined": "ENSP00000514759.2:p.Asn12Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914478"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 880,
          "referenceAllele": "A",
          "start": 879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000710265.1:c.35A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518161.1:p.Asn12Ile",
        "hgvsWellDefined": "ENSP00000518161.1:p.Asn12Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914503"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 176,
          "referenceAllele": "A",
          "start": 175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000472832.3:c.35A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483066.2:p.Asn12Ile",
        "hgvsWellDefined": "ENSP00000483066.2:p.Asn12Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905199"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 176,
          "referenceAllele": "A",
          "start": 175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000688922.2:c.35A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508742.2:p.Asn12Ile",
        "hgvsWellDefined": "ENSP00000508742.2:p.Asn12Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906576"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 710,
          "referenceAllele": "A",
          "start": 709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000700021.1:c.35A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514757.1:p.Asn12Ile",
        "hgvsWellDefined": "ENSP00000514757.1:p.Asn12Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910887"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 426,
          "referenceAllele": "A",
          "start": 425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000700022.1:c.35A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514758.1:p.Asn12Ile",
        "hgvsWellDefined": "ENSP00000514758.1:p.Asn12Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910888"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 131,
          "referenceAllele": "A",
          "start": 130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000706954.1:c.35A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000516674.1:p.Asn12Ile",
        "hgvsWellDefined": "ENSP00000516674.1:p.Asn12Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS913291"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 880,
          "referenceAllele": "A",
          "start": 879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000706955.1:c.35A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000516675.1:p.Asn12Ile",
        "hgvsWellDefined": "ENSP00000516675.1:p.Asn12Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS913292"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 177,
          "referenceAllele": "A",
          "start": 176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000686459.1:c.35A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508909.1:p.Asn12Ile",
        "hgvsWellDefined": "ENSP00000508909.1:p.Asn12Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830588"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 880,
          "referenceAllele": "A",
          "start": 879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000688158.1:c.35A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509254.1:p.Asn12Ile",
        "hgvsWellDefined": "ENSP00000509254.1:p.Asn12Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831470"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 527,
          "referenceAllele": "A",
          "start": 526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000688308.1:c.35A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508752.1:p.Asn12Ile",
        "hgvsWellDefined": "ENSP00000508752.1:p.Asn12Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831553"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1066,
          "referenceAllele": "A",
          "start": 1065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000693560.1:c.554A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509861.1:p.Asn185Ile",
        "hgvsWellDefined": "ENSP00000509861.1:p.Asn185Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834309"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 880,
          "referenceAllele": "A",
          "start": 879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000371953.8:c.35A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361021.3:p.Asn12Ile",
        "hgvsWellDefined": "ENSP00000361021.3:p.Asn12Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750898",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371953.8:c.35A>T"
          },
          "RefSeq": {
            "hgvs": "NM_000314.8:c.35A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000361021.3:p.Asn12Ile"
          },
          "RefSeq": {
            "hgvs": "NP_000305.3:p.Asn12Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1392,
          "referenceAllele": "A",
          "start": 1391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000371953.7:c.35A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361021.3:p.Asn12Ile",
        "hgvsWellDefined": "ENSP00000361021.3:p.Asn12Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247170"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 37,
          "referenceAllele": "A",
          "start": 36
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000462694.1:n.37A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS306889"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 56,
          "referenceAllele": "A",
          "start": 55
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000487939.1:n.56A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS326375"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1067,
          "referenceAllele": "A",
          "start": 1066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000610634.1:c.-68A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477517.1:n.-68A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400508"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4,
          "referenceAllele": "A",
          "start": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000618586.1:n.4A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS404003"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2579816211",
      "coordinates": [
        {
          "allele": "T",
          "end": 1066,
          "referenceAllele": "A",
          "start": 1065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "NM_000314.5:c.35A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000305.3:p.Asn12Ile",
        "hgvsWellDefined": "NP_000305.3:p.Asn12Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006376"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2579816211",
      "coordinates": [
        {
          "allele": "T",
          "end": 1066,
          "referenceAllele": "A",
          "start": 1065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "NM_000314.6:c.35A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000305.3:p.Asn12Ile",
        "hgvsWellDefined": "NP_000305.3:p.Asn12Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006377"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3057235273",
      "coordinates": [
        {
          "allele": "T",
          "end": 1066,
          "referenceAllele": "A",
          "start": 1065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "NM_001304717.2:c.554A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001291646.2:p.Asn185Ile",
        "hgvsWellDefined": "NP_001291646.2:p.Asn185Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025775"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1066,
          "referenceAllele": "A",
          "start": 1065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "NM_001304718.1:c.-671A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001291647.1:n.-671A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025776"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 747,
          "referenceAllele": "A",
          "start": 746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "XM_006717926.2:c.35A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717989.1:p.Asn12Ile",
        "hgvsWellDefined": "XP_006717989.1:p.Asn12Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072385"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 747,
          "referenceAllele": "A",
          "start": 746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "XM_011539981.1:c.35A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538283.1:p.Asn12Ile",
        "hgvsWellDefined": "XP_011538283.1:p.Asn12Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106931"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 747,
          "referenceAllele": "A",
          "start": 746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "XR_945789.1:n.747A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS139422"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 747,
          "referenceAllele": "A",
          "start": 746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "XR_945790.1:n.747A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS139423"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 747,
          "referenceAllele": "A",
          "start": 746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "XR_945791.1:n.747A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS139424"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2579816211",
      "coordinates": [
        {
          "allele": "T",
          "end": 879,
          "referenceAllele": "A",
          "start": 878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "NM_000314.7:c.35A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000305.3:p.Asn12Ile",
        "hgvsWellDefined": "NP_000305.3:p.Asn12Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662397"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139690909",
      "coordinates": [
        {
          "allele": "T",
          "end": 879,
          "referenceAllele": "A",
          "start": 878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "NM_001304717.5:c.554A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001291646.4:p.Asn185Ile",
        "hgvsWellDefined": "NP_001291646.4:p.Asn185Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664314"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 879,
          "referenceAllele": "A",
          "start": 878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "NM_001304718.2:c.-671A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001291647.1:n.-671A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664315"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2579816211",
      "coordinates": [
        {
          "allele": "T",
          "end": 880,
          "referenceAllele": "A",
          "start": 879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "NM_000314.8:c.35A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000305.3:p.Asn12Ile",
        "hgvsWellDefined": "NP_000305.3:p.Asn12Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674788",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371953.8:c.35A>T"
          },
          "RefSeq": {
            "hgvs": "NM_000314.8:c.35A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000361021.3:p.Asn12Ile"
          },
          "RefSeq": {
            "hgvs": "NP_000305.3:p.Asn12Ile"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}