{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA377482777",
  "communityStandardTitle": [
    "NM_000314.8(PTEN):c.464A>C (p.Tyr155Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=537873[alleleid]",
        "alleleId": 537873,
        "preferredName": "NM_000314.8(PTEN):c.464A>C (p.Tyr155Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/547759",
        "RCV": [
          "RCV000660235"
        ],
        "variationId": 547759
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.89692980A>C?assembly=hg19",
        "id": "chr10:g.89692980A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.87933223A>C?assembly=hg38",
        "id": "chr10:g.87933223A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1060500126",
        "rs": 1060500126
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "C",
          "end": 87933223,
          "referenceAllele": "A",
          "start": 87933222
        }
      ],
      "hgvs": [
        "NC_000010.11:g.87933223A>C",
        "CM000672.2:g.87933223A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "C",
          "end": 89692980,
          "referenceAllele": "A",
          "start": 89692979
        }
      ],
      "hgvs": [
        "NC_000010.10:g.89692980A>C",
        "CM000672.1:g.89692980A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "C",
          "end": 89682960,
          "referenceAllele": "A",
          "start": 89682959
        }
      ],
      "hgvs": [
        "NC_000010.9:g.89682960A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 74785,
          "referenceAllele": "A",
          "start": 74784
        }
      ],
      "hgvs": [
        "NG_007466.2:g.74785A>C",
        "LRG_311:g.74785A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000591"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1309,
          "referenceAllele": "A",
          "start": 1308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000700029.2:c.464A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514759.2:p.Tyr155Ser",
        "hgvsWellDefined": "ENSP00000514759.2:p.Tyr155Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914478"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1309,
          "referenceAllele": "A",
          "start": 1308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000710265.1:c.464A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518161.1:p.Tyr155Ser",
        "hgvsWellDefined": "ENSP00000518161.1:p.Tyr155Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914503"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 605,
          "referenceAllele": "A",
          "start": 604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000472832.3:c.464A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483066.2:p.Tyr155Ser",
        "hgvsWellDefined": "ENSP00000483066.2:p.Tyr155Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905199"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1199,
          "referenceAllele": "A",
          "start": 1198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000688158.2:n.1199A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS906571"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 657,
          "referenceAllele": "A",
          "start": 656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000688922.2:c.*294A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508742.2:n.*294A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906576"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1094,
          "referenceAllele": "A",
          "start": 1093
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000700021.1:c.419A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514757.1:p.Tyr140Ser",
        "hgvsWellDefined": "ENSP00000514757.1:p.Tyr140Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910887"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 855,
          "referenceAllele": "A",
          "start": 854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000700022.1:c.464A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514758.1:p.Tyr155Ser",
        "hgvsWellDefined": "ENSP00000514758.1:p.Tyr155Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910888"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 298,
          "referenceAllele": "A",
          "start": 297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000700029.1:c.298A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910893"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 560,
          "referenceAllele": "A",
          "start": 559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000706954.1:c.464A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000516674.1:p.Tyr155Ser",
        "hgvsWellDefined": "ENSP00000516674.1:p.Tyr155Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS913291"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1479,
          "referenceAllele": "A",
          "start": 1478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000706955.1:c.*499A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000516675.1:n.*499A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS913292"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 606,
          "referenceAllele": "A",
          "start": 605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000686459.1:c.464A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508909.1:p.Tyr155Ser",
        "hgvsWellDefined": "ENSP00000508909.1:p.Tyr155Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830588"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1555,
          "referenceAllele": "A",
          "start": 1554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000688158.1:c.*575A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509254.1:n.*575A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831470"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 956,
          "referenceAllele": "A",
          "start": 955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000688308.1:c.464A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508752.1:p.Tyr155Ser",
        "hgvsWellDefined": "ENSP00000508752.1:p.Tyr155Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831553"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 385,
          "referenceAllele": "A",
          "start": 384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000688922.1:c.385A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831892"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1495,
          "referenceAllele": "A",
          "start": 1494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000693560.1:c.983A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509861.1:p.Tyr328Ser",
        "hgvsWellDefined": "ENSP00000509861.1:p.Tyr328Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834309"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1309,
          "referenceAllele": "A",
          "start": 1308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000371953.8:c.464A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361021.3:p.Tyr155Ser",
        "hgvsWellDefined": "ENSP00000361021.3:p.Tyr155Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750898",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371953.8:c.464A>C"
          },
          "RefSeq": {
            "hgvs": "NM_000314.8:c.464A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000361021.3:p.Tyr155Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000305.3:p.Tyr155Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1821,
          "referenceAllele": "A",
          "start": 1820
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000371953.7:c.464A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361021.3:p.Tyr155Ser",
        "hgvsWellDefined": "ENSP00000361021.3:p.Tyr155Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247170"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 290,
          "referenceAllele": "A",
          "start": 289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000498703.1:n.290A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS334650"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1496,
          "referenceAllele": "A",
          "start": 1495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000610634.1:c.362A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477517.1:p.Tyr121Ser",
        "hgvsWellDefined": "ENSP00000477517.1:p.Tyr121Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400508"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658825730",
      "coordinates": [
        {
          "allele": "C",
          "end": 1495,
          "referenceAllele": "A",
          "start": 1494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "NM_000314.5:c.464A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000305.3:p.Tyr155Ser",
        "hgvsWellDefined": "NP_000305.3:p.Tyr155Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006376"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658825730",
      "coordinates": [
        {
          "allele": "C",
          "end": 1495,
          "referenceAllele": "A",
          "start": 1494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "NM_000314.6:c.464A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000305.3:p.Tyr155Ser",
        "hgvsWellDefined": "NP_000305.3:p.Tyr155Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006377"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1495,
          "referenceAllele": "A",
          "start": 1494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "NM_001304717.2:c.983A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001291646.2:p.Tyr328Ser",
        "hgvsWellDefined": "NP_001291646.2:p.Tyr328Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025775"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1450,
          "referenceAllele": "A",
          "start": 1449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "NM_001304718.1:c.-287A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001291647.1:n.-287A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025776"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1131,
          "referenceAllele": "A",
          "start": 1130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "XM_006717926.2:c.419A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717989.1:p.Tyr140Ser",
        "hgvsWellDefined": "XP_006717989.1:p.Tyr140Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072385"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1176,
          "referenceAllele": "A",
          "start": 1175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "XM_011539981.1:c.464A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538283.1:p.Tyr155Ser",
        "hgvsWellDefined": "XP_011538283.1:p.Tyr155Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106931"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4148,
          "referenceAllele": "A",
          "start": 4147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "XM_011539982.1:c.368A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538284.1:p.Tyr123Ser",
        "hgvsWellDefined": "XP_011538284.1:p.Tyr123Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106932"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1176,
          "referenceAllele": "A",
          "start": 1175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "XR_945789.1:n.1176A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS139422"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1176,
          "referenceAllele": "A",
          "start": 1175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "XR_945790.1:n.1176A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS139423"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1176,
          "referenceAllele": "A",
          "start": 1175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "XR_945791.1:n.1176A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS139424"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658825730",
      "coordinates": [
        {
          "allele": "C",
          "end": 1308,
          "referenceAllele": "A",
          "start": 1307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "NM_000314.7:c.464A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000305.3:p.Tyr155Ser",
        "hgvsWellDefined": "NP_000305.3:p.Tyr155Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662397"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916019906",
      "coordinates": [
        {
          "allele": "C",
          "end": 1308,
          "referenceAllele": "A",
          "start": 1307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "NM_001304717.5:c.983A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001291646.4:p.Tyr328Ser",
        "hgvsWellDefined": "NP_001291646.4:p.Tyr328Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664314"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1263,
          "referenceAllele": "A",
          "start": 1262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "NM_001304718.2:c.-287A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001291647.1:n.-287A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664315"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658825730",
      "coordinates": [
        {
          "allele": "C",
          "end": 1309,
          "referenceAllele": "A",
          "start": 1308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "NM_000314.8:c.464A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000305.3:p.Tyr155Ser",
        "hgvsWellDefined": "NP_000305.3:p.Tyr155Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674788",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371953.8:c.464A>C"
          },
          "RefSeq": {
            "hgvs": "NM_000314.8:c.464A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000361021.3:p.Tyr155Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000305.3:p.Tyr155Ser"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}