{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6289826",
  "communityStandardTitle": [
    "NM_000039.3(APOA1):c.315C>T (p.Gly105=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4018083",
        "active": true,
        "id": "COSM4018083"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1521145[alleleid]",
        "alleleId": 1521145,
        "preferredName": "NM_000039.3(APOA1):c.315C>T (p.Gly105=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1576283",
        "RCV": [
          "RCV002078283",
          "RCV002324559",
          "RCV002486851"
        ],
        "variationId": 1576283
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-116707013-G-A",
        "id": "11-116707013-G-A",
        "variant": "11:116707013 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.116707013G>A?assembly=hg19",
        "id": "chr11:g.116707013G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.116836297G>A?assembly=hg38",
        "id": "chr11:g.116836297G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/148950234",
        "rs": 148950234
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-116707013-G-A?dataset=gnomad_r2_1",
        "id": "11-116707013-G-A",
        "variant": "11:116707013 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-116836297-G-A?dataset=gnomad_r3",
        "id": "11-116836297-G-A",
        "variant": "11:116836297 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-116836297-G-A?dataset=gnomad_r4",
        "id": "11-116836297-G-A",
        "variant": "11:116836297 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 116836297,
          "referenceAllele": "G",
          "start": 116836296
        }
      ],
      "hgvs": [
        "NC_000011.10:g.116836297G>A",
        "CM000673.2:g.116836297G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 116707013,
          "referenceAllele": "G",
          "start": 116707012
        }
      ],
      "hgvs": [
        "NC_000011.9:g.116707013G>A",
        "CM000673.1:g.116707013G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 116212223,
          "referenceAllele": "G",
          "start": 116212222
        }
      ],
      "hgvs": [
        "NC_000011.8:g.116212223G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6326,
          "referenceAllele": "C",
          "start": 6325
        }
      ],
      "hgvs": [
        "NG_012021.1:g.6326C>T",
        "LRG_767:g.6326C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002109"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 353,
          "referenceAllele": "C",
          "start": 352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000600",
      "geneNCBI_id": 335,
      "geneSymbol": "APOA1",
      "hgvs": [
        "ENST00000236850.5:c.315C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000236850.3:p.Gly105="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740987",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000236850.5:c.315C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000039.3:c.315C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000236850.3:p.Gly105="
          },
          "RefSeq": {
            "hgvs": "NP_000030.1:p.Gly105="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 681,
          "referenceAllele": "C",
          "start": 680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000600",
      "geneNCBI_id": 335,
      "geneSymbol": "APOA1",
      "hgvs": [
        "ENST00000236850.4:c.315C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000236850.3:p.Gly105="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248976"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 386,
          "referenceAllele": "C",
          "start": 385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000600",
      "geneNCBI_id": 335,
      "geneSymbol": "APOA1",
      "hgvs": [
        "ENST00000359492.6:c.315C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352471.2:p.Gly105="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264806"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 394,
          "referenceAllele": "C",
          "start": 393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000600",
      "geneNCBI_id": 335,
      "geneSymbol": "APOA1",
      "hgvs": [
        "ENST00000375320.5:c.315C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364469.1:p.Gly105="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270656"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 542,
          "referenceAllele": "C",
          "start": 541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000600",
      "geneNCBI_id": 335,
      "geneSymbol": "APOA1",
      "hgvs": [
        "ENST00000375323.5:c.315C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364472.1:p.Gly105="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270659"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 381,
          "referenceAllele": "C",
          "start": 380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000600",
      "geneNCBI_id": 335,
      "geneSymbol": "APOA1",
      "hgvs": [
        "ENST00000375329.6:c.249C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364478.2:p.Gly83="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270662"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825025939",
      "coordinates": [
        {
          "allele": "T",
          "end": 353,
          "referenceAllele": "C",
          "start": 352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000600",
      "geneNCBI_id": 335,
      "geneSymbol": "APOA1",
      "hgvs": [
        "NM_000039.1:c.315C>T",
        "LRG_767t1:c.315C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000030.1:p.Gly105="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006104"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 123,
          "endIntronDirection": "+",
          "endIntronOffset": 58,
          "referenceAllele": "G",
          "start": 123,
          "startIntronDirection": "+",
          "startIntronOffset": 57
        }
      ],
      "gene": "http://reg.genome.network/gene/GN040079",
      "geneNCBI_id": 104326055,
      "geneSymbol": "APOA1-AS",
      "hgvs": [
        "NR_126362.1:n.123+58G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS056205"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 424,
          "referenceAllele": "C",
          "start": 423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000600",
      "geneNCBI_id": 335,
      "geneSymbol": "APOA1",
      "hgvs": [
        "XM_005271539.2:c.315C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271596.1:p.Gly105="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066918"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 389,
          "referenceAllele": "C",
          "start": 388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000600",
      "geneNCBI_id": 335,
      "geneSymbol": "APOA1",
      "hgvs": [
        "XM_005271540.1:c.315C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271597.1:p.Gly105="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066919"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825025939",
      "coordinates": [
        {
          "allele": "T",
          "end": 681,
          "referenceAllele": "C",
          "start": 680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000600",
      "geneNCBI_id": 335,
      "geneSymbol": "APOA1",
      "hgvs": [
        "NM_000039.2:c.315C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000030.1:p.Gly105="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510740"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826976103",
      "coordinates": [
        {
          "allele": "T",
          "end": 394,
          "referenceAllele": "C",
          "start": 393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000600",
      "geneNCBI_id": 335,
      "geneSymbol": "APOA1",
      "hgvs": [
        "NM_001318017.1:c.315C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001304946.1:p.Gly105="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512668"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826976286",
      "coordinates": [
        {
          "allele": "T",
          "end": 386,
          "referenceAllele": "C",
          "start": 385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000600",
      "geneNCBI_id": 335,
      "geneSymbol": "APOA1",
      "hgvs": [
        "NM_001318018.1:c.315C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001304947.1:p.Gly105="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512669"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 637,
          "referenceAllele": "C",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000600",
      "geneNCBI_id": 335,
      "geneSymbol": "APOA1",
      "hgvs": [
        "NM_001318021.1:c.-13C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001304950.1:n.-13C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512671"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826976103",
      "coordinates": [
        {
          "allele": "T",
          "end": 430,
          "referenceAllele": "C",
          "start": 429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000600",
      "geneNCBI_id": 335,
      "geneSymbol": "APOA1",
      "hgvs": [
        "NM_001318017.2:c.315C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001304946.1:p.Gly105="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684391"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826976286",
      "coordinates": [
        {
          "allele": "T",
          "end": 399,
          "referenceAllele": "C",
          "start": 398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000600",
      "geneNCBI_id": 335,
      "geneSymbol": "APOA1",
      "hgvs": [
        "NM_001318018.2:c.315C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001304947.1:p.Gly105="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684392"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825025939",
      "coordinates": [
        {
          "allele": "T",
          "end": 353,
          "referenceAllele": "C",
          "start": 352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000600",
      "geneNCBI_id": 335,
      "geneSymbol": "APOA1",
      "hgvs": [
        "NM_000039.3:c.315C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000030.1:p.Gly105="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710790",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000236850.5:c.315C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000039.3:c.315C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000236850.3:p.Gly105="
          },
          "RefSeq": {
            "hgvs": "NP_000030.1:p.Gly105="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}