{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA041493",
  "communityStandardTitle": [
    "NM_000041.4(APOE):c.[526C>T;761T>A] (p.[Arg176Cys;Val254Glu])"
  ],
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 44908822,
          "referenceAllele": "C",
          "start": 44908821
        },
        {
          "allele": "A",
          "end": 44909057,
          "referenceAllele": "T",
          "start": 44909056
        }
      ],
      "hgvs": [
        "NC_000019.10:g.[44908822C>T;44909057T>A]",
        "CM000681.2:g.[44908822C>T;44909057T>A]"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 45412079,
          "referenceAllele": "C",
          "start": 45412078
        },
        {
          "allele": "A",
          "end": 45412314,
          "referenceAllele": "T",
          "start": 45412313
        }
      ],
      "hgvs": [
        "NC_000019.9:g.[45412079C>T;45412314T>A]",
        "CM000681.1:g.[45412079C>T;45412314T>A]"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 50103919,
          "referenceAllele": "C",
          "start": 50103918
        },
        {
          "allele": "A",
          "end": 50104154,
          "referenceAllele": "T",
          "start": 50104153
        }
      ],
      "hgvs": [
        "NC_000019.8:g.[50103919C>T;50104154T>A]"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8041,
          "referenceAllele": "C",
          "start": 8040
        },
        {
          "allele": "A",
          "end": 8276,
          "referenceAllele": "T",
          "start": 8275
        }
      ],
      "hgvs": [
        "NG_007084.2:g.[8041C>T;8276T>A]"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000464"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 595,
          "referenceAllele": "C",
          "start": 594
        },
        {
          "allele": "A",
          "end": 830,
          "referenceAllele": "T",
          "start": 829
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000613",
      "geneNCBI_id": 348,
      "geneSymbol": "APOE",
      "hgvs": [
        "ENST00000252486.9:c.[526C>T;761T>A]"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000252486.3:p.[Arg176Cys;Val254Glu]",
        "hgvsWellDefined": "ENSP00000252486.3:p.[Arg176Cys;Val254Glu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741532",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000252486.9:c.[526C>T;761T>A]"
          },
          "RefSeq": {
            "hgvs": "NM_000041.4:c.[526C>T;761T>A]"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000252486.3:p.[Arg176Cys;Val254Glu]"
          },
          "RefSeq": {
            "hgvs": "NP_000032.1:p.[Arg176Cys;Val254Glu]"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 637,
          "referenceAllele": "C",
          "start": 636
        },
        {
          "allele": "A",
          "end": 872,
          "referenceAllele": "T",
          "start": 871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000613",
      "geneNCBI_id": 348,
      "geneSymbol": "APOE",
      "hgvs": [
        "ENST00000252486.8:c.[526C>T;761T>A]"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000252486.3:p.[Arg176Cys;Val254Glu]",
        "hgvsWellDefined": "ENSP00000252486.3:p.[Arg176Cys;Val254Glu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249822"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 642,
          "referenceAllele": "C",
          "start": 641
        },
        {
          "allele": "A",
          "end": 877,
          "referenceAllele": "T",
          "start": 876
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000613",
      "geneNCBI_id": 348,
      "geneSymbol": "APOE",
      "hgvs": [
        "NM_000041.3:c.[526C>T;761T>A]"
      ],
      "proteinEffect": {
        "hgvs": "NP_000032.1:p.[Arg176Cys;Val254Glu]",
        "hgvsWellDefined": "NP_000032.1:p.[Arg176Cys;Val254Glu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006106"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 724,
          "referenceAllele": "C",
          "start": 723
        },
        {
          "allele": "A",
          "end": 959,
          "referenceAllele": "T",
          "start": 958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000613",
      "geneNCBI_id": 348,
      "geneSymbol": "APOE",
      "hgvs": [
        "NM_001302688.1:c.[604C>T;839T>A]"
      ],
      "proteinEffect": {
        "hgvs": "NP_001289617.1:p.[Arg202Cys;Val280Glu]",
        "hgvsWellDefined": "NP_001289617.1:p.[Arg202Cys;Val280Glu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025324"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 573,
          "referenceAllele": "C",
          "start": 572
        },
        {
          "allele": "A",
          "end": 808,
          "referenceAllele": "T",
          "start": 807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000613",
      "geneNCBI_id": 348,
      "geneSymbol": "APOE",
      "hgvs": [
        "NM_001302689.1:c.[526C>T;761T>A]"
      ],
      "proteinEffect": {
        "hgvs": "NP_001289618.1:p.[Arg176Cys;Val254Glu]",
        "hgvsWellDefined": "NP_001289618.1:p.[Arg176Cys;Val254Glu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025325"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 673,
          "referenceAllele": "C",
          "start": 672
        },
        {
          "allele": "A",
          "end": 908,
          "referenceAllele": "T",
          "start": 907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000613",
      "geneNCBI_id": 348,
      "geneSymbol": "APOE",
      "hgvs": [
        "NM_001302690.1:c.[526C>T;761T>A]"
      ],
      "proteinEffect": {
        "hgvs": "NP_001289619.1:p.[Arg176Cys;Val254Glu]",
        "hgvsWellDefined": "NP_001289619.1:p.[Arg176Cys;Val254Glu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025326"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 657,
          "referenceAllele": "C",
          "start": 656
        },
        {
          "allele": "A",
          "end": 892,
          "referenceAllele": "T",
          "start": 891
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000613",
      "geneNCBI_id": 348,
      "geneSymbol": "APOE",
      "hgvs": [
        "NM_001302691.1:c.[526C>T;761T>A]"
      ],
      "proteinEffect": {
        "hgvs": "NP_001289620.1:p.[Arg176Cys;Val254Glu]",
        "hgvsWellDefined": "NP_001289620.1:p.[Arg176Cys;Val254Glu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025327"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 595,
          "referenceAllele": "C",
          "start": 594
        },
        {
          "allele": "A",
          "end": 830,
          "referenceAllele": "T",
          "start": 829
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000613",
      "geneNCBI_id": 348,
      "geneSymbol": "APOE",
      "hgvs": [
        "NM_000041.4:c.[526C>T;761T>A]"
      ],
      "proteinEffect": {
        "hgvs": "NP_000032.1:p.[Arg176Cys;Val254Glu]",
        "hgvsWellDefined": "NP_000032.1:p.[Arg176Cys;Val254Glu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662297",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000252486.9:c.[526C>T;761T>A]"
          },
          "RefSeq": {
            "hgvs": "NM_000041.4:c.[526C>T;761T>A]"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000252486.3:p.[Arg176Cys;Val254Glu]"
          },
          "RefSeq": {
            "hgvs": "NP_000032.1:p.[Arg176Cys;Val254Glu]"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 677,
          "referenceAllele": "C",
          "start": 676
        },
        {
          "allele": "A",
          "end": 912,
          "referenceAllele": "T",
          "start": 911
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000613",
      "geneNCBI_id": 348,
      "geneSymbol": "APOE",
      "hgvs": [
        "NM_001302688.2:c.[604C>T;839T>A]"
      ],
      "proteinEffect": {
        "hgvs": "NP_001289617.1:p.[Arg202Cys;Val280Glu]",
        "hgvsWellDefined": "NP_001289617.1:p.[Arg202Cys;Val280Glu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683478"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 573,
          "referenceAllele": "C",
          "start": 572
        },
        {
          "allele": "A",
          "end": 808,
          "referenceAllele": "T",
          "start": 807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000613",
      "geneNCBI_id": 348,
      "geneSymbol": "APOE",
      "hgvs": [
        "NM_001302689.2:c.[526C>T;761T>A]"
      ],
      "proteinEffect": {
        "hgvs": "NP_001289618.1:p.[Arg176Cys;Val254Glu]",
        "hgvsWellDefined": "NP_001289618.1:p.[Arg176Cys;Val254Glu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683479"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 610,
          "referenceAllele": "C",
          "start": 609
        },
        {
          "allele": "A",
          "end": 845,
          "referenceAllele": "T",
          "start": 844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000613",
      "geneNCBI_id": 348,
      "geneSymbol": "APOE",
      "hgvs": [
        "NM_001302691.2:c.[526C>T;761T>A]"
      ],
      "proteinEffect": {
        "hgvs": "NP_001289620.1:p.[Arg176Cys;Val254Glu]",
        "hgvsWellDefined": "NP_001289620.1:p.[Arg176Cys;Val254Glu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683480"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 673,
          "referenceAllele": "C",
          "start": 672
        },
        {
          "allele": "A",
          "end": 908,
          "referenceAllele": "T",
          "start": 907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000613",
      "geneNCBI_id": 348,
      "geneSymbol": "APOE",
      "hgvs": [
        "NM_001302690.2:c.[526C>T;761T>A]"
      ],
      "proteinEffect": {
        "hgvs": "NP_001289619.1:p.[Arg176Cys;Val254Glu]",
        "hgvsWellDefined": "NP_001289619.1:p.[Arg176Cys;Val254Glu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716994"
    }
  ],
  "type": "nucleotide"
}