{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16042933",
  "communityStandardTitle": [
    "NM_000138.5(FBN1):c.7879G>C (p.Gly2627Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=360164[alleleid]",
        "alleleId": 360164,
        "preferredName": "NM_000138.5(FBN1):c.7879G>C (p.Gly2627Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/372606",
        "RCV": [
          "RCV000414309",
          "RCV000663990",
          "RCV000632003",
          "RCV001553625"
        ],
        "variationId": 372606
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.48707905C>G?assembly=hg19",
        "id": "chr15:g.48707905C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.48415708C>G?assembly=hg38",
        "id": "chr15:g.48415708C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/193922239",
        "rs": 193922239
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 48415708,
          "referenceAllele": "C",
          "start": 48415707
        }
      ],
      "hgvs": [
        "NC_000015.10:g.48415708C>G",
        "CM000677.2:g.48415708C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 48707905,
          "referenceAllele": "C",
          "start": 48707904
        }
      ],
      "hgvs": [
        "NC_000015.9:g.48707905C>G",
        "CM000677.1:g.48707905C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 46495197,
          "referenceAllele": "C",
          "start": 46495196
        }
      ],
      "hgvs": [
        "NC_000015.8:g.46495197C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 235081,
          "referenceAllele": "G",
          "start": 235080
        }
      ],
      "hgvs": [
        "NG_008805.2:g.235081G>C",
        "LRG_778:g.235081G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001224"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8257,
          "referenceAllele": "G",
          "start": 8256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000559133.6:c.*687G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453958.2:n.*687G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914274"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8362,
          "referenceAllele": "G",
          "start": 8361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000674301.2:c.*1392G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501333.2:n.*1392G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914454"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1260,
          "referenceAllele": "G",
          "start": 1259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000682158.1:n.1260G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827155"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2060,
          "referenceAllele": "G",
          "start": 2059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000682170.1:n.2060G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827167"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1176,
          "referenceAllele": "G",
          "start": 1175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000682767.1:n.1176G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827756"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8195,
          "referenceAllele": "G",
          "start": 8194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000316623.10:c.7879G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000325527.5:p.Gly2627Arg",
        "hgvsWellDefined": "ENSP00000325527.5:p.Gly2627Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746076",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000316623.10:c.7879G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000138.5:c.7879G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000325527.5:p.Gly2627Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000129.3:p.Gly2627Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3045,
          "referenceAllele": "G",
          "start": 3044
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000674301.1:c.3045G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501333.1:n.3045G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774292"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8335,
          "referenceAllele": "G",
          "start": 8334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000316623.9:c.7879G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000325527.5:p.Gly2627Arg",
        "hgvsWellDefined": "ENSP00000325527.5:p.Gly2627Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247158"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3248,
          "referenceAllele": "G",
          "start": 3247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000559133.5:c.3248G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS374338"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 134,
          "referenceAllele": "G",
          "start": 133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000561429.1:n.134G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS376103"
    },
    {
      "@id": "http://reg.genome.network/allele/PA281856",
      "coordinates": [
        {
          "allele": "C",
          "end": 8274,
          "referenceAllele": "G",
          "start": 8273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "NM_000138.4:c.7879G>C",
        "LRG_778t1:c.7879G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000129.3:p.Gly2627Arg",
        "hgvsWellDefined": "NP_000129.3:p.Gly2627Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006200"
    },
    {
      "@id": "http://reg.genome.network/allele/PA281856",
      "coordinates": [
        {
          "allele": "C",
          "end": 8195,
          "referenceAllele": "G",
          "start": 8194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "NM_000138.5:c.7879G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000129.3:p.Gly2627Arg",
        "hgvsWellDefined": "NP_000129.3:p.Gly2627Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674722",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000316623.10:c.7879G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000138.5:c.7879G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000325527.5:p.Gly2627Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000129.3:p.Gly2627Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}