{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA015638",
  "communityStandardTitle": [
    "NM_000138.5(FBN1):c.5099A>G (p.Tyr1700Cys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=38656[alleleid]",
        "alleleId": 38656,
        "preferredName": "NM_000138.5(FBN1):c.5099A>G (p.Tyr1700Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/29701",
        "RCV": [
          "RCV000022550",
          "RCV000494669",
          "RCV001851997"
        ],
        "variationId": 29701
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.48755404T>C?assembly=hg19",
        "id": "chr15:g.48755404T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.48463207T>C?assembly=hg38",
        "id": "chr15:g.48463207T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/387906626",
        "rs": 387906626
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 48463207,
          "referenceAllele": "T",
          "start": 48463206
        }
      ],
      "hgvs": [
        "NC_000015.10:g.48463207T>C",
        "CM000677.2:g.48463207T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 48755404,
          "referenceAllele": "T",
          "start": 48755403
        }
      ],
      "hgvs": [
        "NC_000015.9:g.48755404T>C",
        "CM000677.1:g.48755404T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 46542696,
          "referenceAllele": "T",
          "start": 46542695
        }
      ],
      "hgvs": [
        "NC_000015.8:g.46542696T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 187582,
          "referenceAllele": "A",
          "start": 187581
        }
      ],
      "hgvs": [
        "NG_008805.2:g.187582A>G",
        "LRG_778:g.187582A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001224"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5415,
          "referenceAllele": "A",
          "start": 5414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000559133.6:c.5099A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453958.2:p.Tyr1700Cys",
        "hgvsWellDefined": "ENSP00000453958.2:p.Tyr1700Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914274"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5415,
          "referenceAllele": "A",
          "start": 5414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000674301.2:c.5099A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501333.2:p.Tyr1700Cys",
        "hgvsWellDefined": "ENSP00000501333.2:p.Tyr1700Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914454"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3773,
          "referenceAllele": "A",
          "start": 3772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000684448.1:n.3773A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829402"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5415,
          "referenceAllele": "A",
          "start": 5414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000316623.10:c.5099A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000325527.5:p.Tyr1700Cys",
        "hgvsWellDefined": "ENSP00000325527.5:p.Tyr1700Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746076",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000316623.10:c.5099A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000138.5:c.5099A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000325527.5:p.Tyr1700Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000129.3:p.Tyr1700Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 98,
          "referenceAllele": "A",
          "start": 97
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000674301.1:c.98A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501333.1:p.Tyr33Cys",
        "hgvsWellDefined": "ENSP00000501333.1:p.Tyr33Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774292"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5555,
          "referenceAllele": "A",
          "start": 5554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000316623.9:c.5099A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000325527.5:p.Tyr1700Cys",
        "hgvsWellDefined": "ENSP00000325527.5:p.Tyr1700Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247158"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2087,
          "referenceAllele": "A",
          "start": 2086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000537463.6:c.*862A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440294.2:n.*862A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360786"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 406,
          "referenceAllele": "A",
          "start": 405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000559133.5:c.406A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS374338"
    },
    {
      "@id": "http://reg.genome.network/allele/PA342700",
      "coordinates": [
        {
          "allele": "G",
          "end": 5494,
          "referenceAllele": "A",
          "start": 5493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "NM_000138.4:c.5099A>G",
        "LRG_778t1:c.5099A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000129.3:p.Tyr1700Cys",
        "hgvsWellDefined": "NP_000129.3:p.Tyr1700Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006200"
    },
    {
      "@id": "http://reg.genome.network/allele/PA342700",
      "coordinates": [
        {
          "allele": "G",
          "end": 5415,
          "referenceAllele": "A",
          "start": 5414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "NM_000138.5:c.5099A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000129.3:p.Tyr1700Cys",
        "hgvsWellDefined": "NP_000129.3:p.Tyr1700Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674722",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000316623.10:c.5099A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000138.5:c.5099A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000325527.5:p.Tyr1700Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000129.3:p.Tyr1700Cys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}