{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA012433",
  "communityStandardTitle": [
    "NM_000138.5(FBN1):c.1664G>T (p.Cys555Phe)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=197791[alleleid]",
        "alleleId": 197791,
        "preferredName": "NM_000138.5(FBN1):c.1664G>T (p.Cys555Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/199974",
        "RCV": [
          "RCV000181437",
          "RCV002516835"
        ],
        "variationId": 199974
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.48802291C>A?assembly=hg19",
        "id": "chr15:g.48802291C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.48510094C>A?assembly=hg38",
        "id": "chr15:g.48510094C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/794728172",
        "rs": 794728172
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 48510094,
          "referenceAllele": "C",
          "start": 48510093
        }
      ],
      "hgvs": [
        "NC_000015.10:g.48510094C>A",
        "CM000677.2:g.48510094C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 48802291,
          "referenceAllele": "C",
          "start": 48802290
        }
      ],
      "hgvs": [
        "NC_000015.9:g.48802291C>A",
        "CM000677.1:g.48802291C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 46589583,
          "referenceAllele": "C",
          "start": 46589582
        }
      ],
      "hgvs": [
        "NC_000015.8:g.46589583C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 140695,
          "referenceAllele": "G",
          "start": 140694
        }
      ],
      "hgvs": [
        "NG_008805.2:g.140695G>T",
        "LRG_778:g.140695G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001224"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1980,
          "referenceAllele": "G",
          "start": 1979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000559133.6:c.1664G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453958.2:p.Cys555Phe",
        "hgvsWellDefined": "ENSP00000453958.2:p.Cys555Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914274"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1980,
          "referenceAllele": "G",
          "start": 1979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000674301.2:c.1664G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501333.2:p.Cys555Phe",
        "hgvsWellDefined": "ENSP00000501333.2:p.Cys555Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914454"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 338,
          "referenceAllele": "G",
          "start": 337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000684448.1:n.338G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829402"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1980,
          "referenceAllele": "G",
          "start": 1979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000316623.10:c.1664G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000325527.5:p.Cys555Phe",
        "hgvsWellDefined": "ENSP00000325527.5:p.Cys555Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746076",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000316623.10:c.1664G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000138.5:c.1664G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000325527.5:p.Cys555Phe"
          },
          "RefSeq": {
            "hgvs": "NP_000129.3:p.Cys555Phe"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2120,
          "referenceAllele": "G",
          "start": 2119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000316623.9:c.1664G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000325527.5:p.Cys555Phe",
        "hgvsWellDefined": "ENSP00000325527.5:p.Cys555Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247158"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 952,
          "endIntronDirection": "+",
          "endIntronOffset": 27617,
          "referenceAllele": "G",
          "start": 952,
          "startIntronDirection": "+",
          "startIntronOffset": 27616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000537463.6:c.636+27617G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440294.2:n.636+27617G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360786"
    },
    {
      "@id": "http://reg.genome.network/allele/PA304022",
      "coordinates": [
        {
          "allele": "T",
          "end": 2059,
          "referenceAllele": "G",
          "start": 2058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "NM_000138.4:c.1664G>T",
        "LRG_778t1:c.1664G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000129.3:p.Cys555Phe",
        "hgvsWellDefined": "NP_000129.3:p.Cys555Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006200"
    },
    {
      "@id": "http://reg.genome.network/allele/PA304022",
      "coordinates": [
        {
          "allele": "T",
          "end": 1980,
          "referenceAllele": "G",
          "start": 1979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "NM_000138.5:c.1664G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000129.3:p.Cys555Phe",
        "hgvsWellDefined": "NP_000129.3:p.Cys555Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674722",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000316623.10:c.1664G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000138.5:c.1664G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000325527.5:p.Cys555Phe"
          },
          "RefSeq": {
            "hgvs": "NP_000129.3:p.Cys555Phe"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}