{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2002740972",
  "communityStandardTitle": [
    "NM_001371904.1(APOA5):c.415C= (p.Gln139=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121917821",
        "rs": 121917821
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 116790814,
          "referenceAllele": "G",
          "start": 116790813
        }
      ],
      "hgvs": [
        "NC_000011.10:g.116790814G=",
        "CM000673.2:g.116790814G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 116661530,
          "referenceAllele": "G",
          "start": 116661529
        }
      ],
      "hgvs": [
        "NC_000011.9:g.116661530G=",
        "CM000673.1:g.116661530G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 116166740,
          "referenceAllele": "G",
          "start": 116166739
        }
      ],
      "hgvs": [
        "NC_000011.8:g.116166740G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6607,
          "referenceAllele": "C",
          "start": 6606
        }
      ],
      "hgvs": [
        "NG_015894.1:g.6607C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002912"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6607,
          "referenceAllele": "C",
          "start": 6606
        }
      ],
      "hgvs": [
        "NG_015894.2:g.6607C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706115"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 434,
          "referenceAllele": "C",
          "start": 433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017288",
      "geneNCBI_id": 116519,
      "geneSymbol": "APOA5",
      "hgvs": [
        "ENST00000227665.9:c.415C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000227665.4:p.Gln139="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740731",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000227665.9:c.415C="
          },
          "RefSeq": {
            "hgvs": "NM_001371904.1:c.415C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000227665.4:p.Gln139="
          },
          "RefSeq": {
            "hgvs": "NP_001358833.1:p.Gln139="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 435,
          "referenceAllele": "C",
          "start": 434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017288",
      "geneNCBI_id": 116519,
      "geneSymbol": "APOA5",
      "hgvs": [
        "ENST00000433069.2:c.415C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399701.2:p.Gln139="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755440"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 510,
          "referenceAllele": "C",
          "start": 509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017288",
      "geneNCBI_id": 116519,
      "geneSymbol": "APOA5",
      "hgvs": [
        "ENST00000673688.1:c.499C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501141.1:p.Gln167="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773789"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 450,
          "referenceAllele": "C",
          "start": 449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017288",
      "geneNCBI_id": 116519,
      "geneSymbol": "APOA5",
      "hgvs": [
        "ENST00000227665.8:c.415C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000227665.4:p.Gln139="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248598"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 455,
          "referenceAllele": "C",
          "start": 454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017288",
      "geneNCBI_id": 116519,
      "geneSymbol": "APOA5",
      "hgvs": [
        "ENST00000433069.1:c.415C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399701.1:p.Gln139="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS292374"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 488,
          "referenceAllele": "C",
          "start": 487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017288",
      "geneNCBI_id": 116519,
      "geneSymbol": "APOA5",
      "hgvs": [
        "ENST00000542499.5:c.415C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445002.1:p.Gln139="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363495"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 464,
          "referenceAllele": "C",
          "start": 463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017288",
      "geneNCBI_id": 116519,
      "geneSymbol": "APOA5",
      "hgvs": [
        "NM_001166598.1:c.415C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001160070.1:p.Gln139="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014925"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3077715764",
      "coordinates": [
        {
          "allele": "C",
          "end": 488,
          "referenceAllele": "C",
          "start": 487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017288",
      "geneNCBI_id": 116519,
      "geneSymbol": "APOA5",
      "hgvs": [
        "NM_052968.4:c.415C="
      ],
      "proteinEffect": {
        "hgvs": "NP_443200.2:p.Gln139="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039951"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 464,
          "referenceAllele": "C",
          "start": 463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017288",
      "geneNCBI_id": 116519,
      "geneSymbol": "APOA5",
      "hgvs": [
        "NM_001166598.2:c.415C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001160070.1:p.Gln139="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678513"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 434,
          "referenceAllele": "C",
          "start": 433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017288",
      "geneNCBI_id": 116519,
      "geneSymbol": "APOA5",
      "hgvs": [
        "NM_001371904.1:c.415C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001358833.1:p.Gln139="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693054",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000227665.9:c.415C="
          },
          "RefSeq": {
            "hgvs": "NM_001371904.1:c.415C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000227665.4:p.Gln139="
          },
          "RefSeq": {
            "hgvs": "NP_001358833.1:p.Gln139="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA3077715764",
      "coordinates": [
        {
          "allele": "C",
          "end": 488,
          "referenceAllele": "C",
          "start": 487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017288",
      "geneNCBI_id": 116519,
      "geneSymbol": "APOA5",
      "hgvs": [
        "NM_052968.5:c.415C="
      ],
      "proteinEffect": {
        "hgvs": "NP_443200.2:p.Gln139="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699427"
    }
  ],
  "type": "nucleotide"
}