{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1926175022",
  "communityStandardTitle": [
    "NM_000314.8(PTEN):c.370T= (p.Cys124=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121909223",
        "rs": 121909223
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1554898123",
        "rs": 1554898123
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2493717485",
        "rs": 2493717485
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 87933129,
          "referenceAllele": "T",
          "start": 87933128
        }
      ],
      "hgvs": [
        "NC_000010.11:g.87933129T=",
        "CM000672.2:g.87933129T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 89692886,
          "referenceAllele": "T",
          "start": 89692885
        }
      ],
      "hgvs": [
        "NC_000010.10:g.89692886T=",
        "CM000672.1:g.89692886T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 89682866,
          "referenceAllele": "T",
          "start": 89682865
        }
      ],
      "hgvs": [
        "NC_000010.9:g.89682866T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 74691,
          "referenceAllele": "T",
          "start": 74690
        }
      ],
      "hgvs": [
        "NG_007466.2:g.74691T=",
        "LRG_311:g.74691T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000591"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1215,
          "referenceAllele": "T",
          "start": 1214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000700029.2:c.370T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514759.2:p.Cys124="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914478"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1215,
          "referenceAllele": "T",
          "start": 1214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000710265.1:c.370T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518161.1:p.Cys124="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914503"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 511,
          "referenceAllele": "T",
          "start": 510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000472832.3:c.370T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483066.2:p.Cys124="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905199"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1105,
          "referenceAllele": "T",
          "start": 1104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000688158.2:n.1105T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS906571"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 563,
          "referenceAllele": "T",
          "start": 562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000688922.2:c.*200T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508742.2:n.*200T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906576"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1000,
          "referenceAllele": "T",
          "start": 999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000700021.1:c.325T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514757.1:p.Cys109="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910887"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 761,
          "referenceAllele": "T",
          "start": 760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000700022.1:c.370T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514758.1:p.Cys124="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910888"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 204,
          "referenceAllele": "T",
          "start": 203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000700029.1:c.204T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910893"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 466,
          "referenceAllele": "T",
          "start": 465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000706954.1:c.370T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000516674.1:p.Cys124="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS913291"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1385,
          "referenceAllele": "T",
          "start": 1384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000706955.1:c.*405T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000516675.1:n.*405T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS913292"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 512,
          "referenceAllele": "T",
          "start": 511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000686459.1:c.370T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508909.1:p.Cys124="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830588"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1461,
          "referenceAllele": "T",
          "start": 1460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000688158.1:c.*481T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509254.1:n.*481T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831470"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 862,
          "referenceAllele": "T",
          "start": 861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000688308.1:c.370T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508752.1:p.Cys124="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831553"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 291,
          "referenceAllele": "T",
          "start": 290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000688922.1:c.291T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831892"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1401,
          "referenceAllele": "T",
          "start": 1400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000693560.1:c.889T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509861.1:p.Cys297="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834309"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1215,
          "referenceAllele": "T",
          "start": 1214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000371953.8:c.370T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361021.3:p.Cys124="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750898",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371953.8:c.370T="
          },
          "RefSeq": {
            "hgvs": "NM_000314.8:c.370T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000361021.3:p.Cys124="
          },
          "RefSeq": {
            "hgvs": "NP_000305.3:p.Cys124="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1727,
          "referenceAllele": "T",
          "start": 1726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000371953.7:c.370T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361021.3:p.Cys124="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247170"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 196,
          "referenceAllele": "T",
          "start": 195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000498703.1:n.196T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS334650"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1402,
          "referenceAllele": "T",
          "start": 1401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000610634.1:c.268T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477517.1:p.Cys90="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400508"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3076694787",
      "coordinates": [
        {
          "allele": "T",
          "end": 1401,
          "referenceAllele": "T",
          "start": 1400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "NM_000314.5:c.370T="
      ],
      "proteinEffect": {
        "hgvs": "NP_000305.3:p.Cys124="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006376"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3076694787",
      "coordinates": [
        {
          "allele": "T",
          "end": 1401,
          "referenceAllele": "T",
          "start": 1400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "NM_000314.6:c.370T="
      ],
      "proteinEffect": {
        "hgvs": "NP_000305.3:p.Cys124="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006377"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1401,
          "referenceAllele": "T",
          "start": 1400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "NM_001304717.2:c.889T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001291646.2:p.Cys297="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025775"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1356,
          "referenceAllele": "T",
          "start": 1355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "NM_001304718.1:c.-381T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001291647.1:n.-381T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025776"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1037,
          "referenceAllele": "T",
          "start": 1036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "XM_006717926.2:c.325T="
      ],
      "proteinEffect": {
        "hgvs": "XP_006717989.1:p.Cys109="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072385"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1082,
          "referenceAllele": "T",
          "start": 1081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "XM_011539981.1:c.370T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011538283.1:p.Cys124="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106931"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4054,
          "referenceAllele": "T",
          "start": 4053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "XM_011539982.1:c.274T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011538284.1:p.Cys92="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106932"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1082,
          "referenceAllele": "T",
          "start": 1081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "XR_945789.1:n.1082T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS139422"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1082,
          "referenceAllele": "T",
          "start": 1081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "XR_945790.1:n.1082T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS139423"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1082,
          "referenceAllele": "T",
          "start": 1081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "XR_945791.1:n.1082T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS139424"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3076694787",
      "coordinates": [
        {
          "allele": "T",
          "end": 1214,
          "referenceAllele": "T",
          "start": 1213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "NM_000314.7:c.370T="
      ],
      "proteinEffect": {
        "hgvs": "NP_000305.3:p.Cys124="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662397"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1214,
          "referenceAllele": "T",
          "start": 1213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "NM_001304717.5:c.889T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001291646.4:p.Cys297="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664314"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1169,
          "referenceAllele": "T",
          "start": 1168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "NM_001304718.2:c.-381T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001291647.1:n.-381T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664315"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3076694787",
      "coordinates": [
        {
          "allele": "T",
          "end": 1215,
          "referenceAllele": "T",
          "start": 1214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "NM_000314.8:c.370T="
      ],
      "proteinEffect": {
        "hgvs": "NP_000305.3:p.Cys124="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674788",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371953.8:c.370T="
          },
          "RefSeq": {
            "hgvs": "NM_000314.8:c.370T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000361021.3:p.Cys124="
          },
          "RefSeq": {
            "hgvs": "NP_000305.3:p.Cys124="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}