{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA127586",
  "communityStandardTitle": [
    "NM_000039.3(APOA1):c.518G>C (p.Arg173Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=32971[alleleid]",
        "alleleId": 32971,
        "preferredName": "NM_000039.3(APOA1):c.518G>C (p.Arg173Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/17932",
        "RCV": [
          "RCV004555845"
        ],
        "variationId": 17932
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.116706810C>G?assembly=hg19",
        "id": "chr11:g.116706810C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.116836094C>G?assembly=hg38",
        "id": "chr11:g.116836094C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/387906571",
        "rs": 387906571
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 116836094,
          "referenceAllele": "C",
          "start": 116836093
        }
      ],
      "hgvs": [
        "NC_000011.10:g.116836094C>G",
        "CM000673.2:g.116836094C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 116706810,
          "referenceAllele": "C",
          "start": 116706809
        }
      ],
      "hgvs": [
        "NC_000011.9:g.116706810C>G",
        "CM000673.1:g.116706810C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 116212020,
          "referenceAllele": "C",
          "start": 116212019
        }
      ],
      "hgvs": [
        "NC_000011.8:g.116212020C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6529,
          "referenceAllele": "G",
          "start": 6528
        }
      ],
      "hgvs": [
        "NG_012021.1:g.6529G>C",
        "LRG_767:g.6529G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002109"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 556,
          "referenceAllele": "G",
          "start": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000600",
      "geneNCBI_id": 335,
      "geneSymbol": "APOA1",
      "hgvs": [
        "ENST00000236850.5:c.518G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000236850.3:p.Arg173Pro",
        "hgvsWellDefined": "ENSP00000236850.3:p.Arg173Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740987",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000236850.5:c.518G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000039.3:c.518G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000236850.3:p.Arg173Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000030.1:p.Arg173Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 884,
          "referenceAllele": "G",
          "start": 883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000600",
      "geneNCBI_id": 335,
      "geneSymbol": "APOA1",
      "hgvs": [
        "ENST00000236850.4:c.518G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000236850.3:p.Arg173Pro",
        "hgvsWellDefined": "ENSP00000236850.3:p.Arg173Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248976"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 589,
          "referenceAllele": "G",
          "start": 588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000600",
      "geneNCBI_id": 335,
      "geneSymbol": "APOA1",
      "hgvs": [
        "ENST00000359492.6:c.518G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352471.2:p.Arg173Pro",
        "hgvsWellDefined": "ENSP00000352471.2:p.Arg173Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264806"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 597,
          "referenceAllele": "G",
          "start": 596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000600",
      "geneNCBI_id": 335,
      "geneSymbol": "APOA1",
      "hgvs": [
        "ENST00000375320.5:c.518G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364469.1:p.Arg173Pro",
        "hgvsWellDefined": "ENSP00000364469.1:p.Arg173Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270656"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 745,
          "referenceAllele": "G",
          "start": 744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000600",
      "geneNCBI_id": 335,
      "geneSymbol": "APOA1",
      "hgvs": [
        "ENST00000375323.5:c.518G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364472.1:p.Arg173Pro",
        "hgvsWellDefined": "ENSP00000364472.1:p.Arg173Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270659"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 584,
          "referenceAllele": "G",
          "start": 583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000600",
      "geneNCBI_id": 335,
      "geneSymbol": "APOA1",
      "hgvs": [
        "ENST00000375329.6:c.452G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364478.2:p.Arg151Pro",
        "hgvsWellDefined": "ENSP00000364478.2:p.Arg151Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270662"
    },
    {
      "@id": "http://reg.genome.network/allele/PA127588",
      "coordinates": [
        {
          "allele": "C",
          "end": 556,
          "referenceAllele": "G",
          "start": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000600",
      "geneNCBI_id": 335,
      "geneSymbol": "APOA1",
      "hgvs": [
        "NM_000039.1:c.518G>C",
        "LRG_767t1:c.518G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000030.1:p.Arg173Pro",
        "hgvsWellDefined": "NP_000030.1:p.Arg173Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006104"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 627,
          "referenceAllele": "G",
          "start": 626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000600",
      "geneNCBI_id": 335,
      "geneSymbol": "APOA1",
      "hgvs": [
        "XM_005271539.2:c.518G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271596.1:p.Arg173Pro",
        "hgvsWellDefined": "XP_005271596.1:p.Arg173Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066918"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 592,
          "referenceAllele": "G",
          "start": 591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000600",
      "geneNCBI_id": 335,
      "geneSymbol": "APOA1",
      "hgvs": [
        "XM_005271540.1:c.518G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271597.1:p.Arg173Pro",
        "hgvsWellDefined": "XP_005271597.1:p.Arg173Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066919"
    },
    {
      "@id": "http://reg.genome.network/allele/PA127588",
      "coordinates": [
        {
          "allele": "C",
          "end": 884,
          "referenceAllele": "G",
          "start": 883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000600",
      "geneNCBI_id": 335,
      "geneSymbol": "APOA1",
      "hgvs": [
        "NM_000039.2:c.518G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000030.1:p.Arg173Pro",
        "hgvsWellDefined": "NP_000030.1:p.Arg173Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510740"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826976164",
      "coordinates": [
        {
          "allele": "C",
          "end": 597,
          "referenceAllele": "G",
          "start": 596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000600",
      "geneNCBI_id": 335,
      "geneSymbol": "APOA1",
      "hgvs": [
        "NM_001318017.1:c.518G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001304946.1:p.Arg173Pro",
        "hgvsWellDefined": "NP_001304946.1:p.Arg173Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512668"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826976345",
      "coordinates": [
        {
          "allele": "C",
          "end": 589,
          "referenceAllele": "G",
          "start": 588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000600",
      "geneNCBI_id": 335,
      "geneSymbol": "APOA1",
      "hgvs": [
        "NM_001318018.1:c.518G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001304947.1:p.Arg173Pro",
        "hgvsWellDefined": "NP_001304947.1:p.Arg173Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512669"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916022153",
      "coordinates": [
        {
          "allele": "C",
          "end": 840,
          "referenceAllele": "G",
          "start": 839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000600",
      "geneNCBI_id": 335,
      "geneSymbol": "APOA1",
      "hgvs": [
        "NM_001318021.1:c.191G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001304950.1:p.Arg64Pro",
        "hgvsWellDefined": "NP_001304950.1:p.Arg64Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512671"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826976164",
      "coordinates": [
        {
          "allele": "C",
          "end": 633,
          "referenceAllele": "G",
          "start": 632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000600",
      "geneNCBI_id": 335,
      "geneSymbol": "APOA1",
      "hgvs": [
        "NM_001318017.2:c.518G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001304946.1:p.Arg173Pro",
        "hgvsWellDefined": "NP_001304946.1:p.Arg173Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684391"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826976345",
      "coordinates": [
        {
          "allele": "C",
          "end": 602,
          "referenceAllele": "G",
          "start": 601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000600",
      "geneNCBI_id": 335,
      "geneSymbol": "APOA1",
      "hgvs": [
        "NM_001318018.2:c.518G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001304947.1:p.Arg173Pro",
        "hgvsWellDefined": "NP_001304947.1:p.Arg173Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684392"
    },
    {
      "@id": "http://reg.genome.network/allele/PA127588",
      "coordinates": [
        {
          "allele": "C",
          "end": 556,
          "referenceAllele": "G",
          "start": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000600",
      "geneNCBI_id": 335,
      "geneSymbol": "APOA1",
      "hgvs": [
        "NM_000039.3:c.518G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000030.1:p.Arg173Pro",
        "hgvsWellDefined": "NP_000030.1:p.Arg173Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710790",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000236850.5:c.518G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000039.3:c.518G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000236850.3:p.Arg173Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000030.1:p.Arg173Pro"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}