{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA260294",
  "communityStandardTitle": [
    "NM_000088.4(COL1A1):c.2398-1G>C"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=44574[alleleid]",
        "alleleId": 44574,
        "preferredName": "NM_000088.4(COL1A1):c.2398-1G>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/35910",
        "RCV": [
          "RCV000029565",
          "RCV002513241"
        ],
        "variationId": 35910
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.48267742C>G?assembly=hg19",
        "id": "chr17:g.48267742C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.50190381C>G?assembly=hg38",
        "id": "chr17:g.50190381C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/193922147",
        "rs": 193922147
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 50190381,
          "referenceAllele": "C",
          "start": 50190380
        }
      ],
      "hgvs": [
        "NC_000017.11:g.50190381C>G",
        "CM000679.2:g.50190381C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 48267742,
          "referenceAllele": "C",
          "start": 48267741
        }
      ],
      "hgvs": [
        "NC_000017.10:g.48267742C>G",
        "CM000679.1:g.48267742C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 45622741,
          "referenceAllele": "C",
          "start": 45622740
        }
      ],
      "hgvs": [
        "NC_000017.9:g.45622741C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 16259,
          "referenceAllele": "G",
          "start": 16258
        }
      ],
      "hgvs": [
        "NG_007400.1:g.16259G>C",
        "LRG_1:g.16259G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000567"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2515,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2515,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "ENST00000225964.10:c.2398-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000225964.6:n.2398-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740684",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000225964.10:c.2398-1G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000088.4:c.2398-1G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000225964.6:n.2398-1G>C"
          },
          "RefSeq": {
            "hgvs": "NP_000079.2:n.2398-1G>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2516,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2516,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "ENST00000225964.9:c.2398-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000225964.5:n.2398-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248535"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 324,
          "referenceAllele": "G",
          "start": 323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "ENST00000494334.1:n.324G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS331291"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2523,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2523,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "NM_000088.3:c.2398-1G>C",
        "LRG_1t1:c.2398-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000079.2:n.2398-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006152"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2532,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2532,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "XM_005257058.3:c.2398-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257115.2:n.2398-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061555"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1613,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1613,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "XM_005257059.3:c.1480-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257116.2:n.1480-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061556"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2334,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2334,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "XM_011524341.1:c.2200-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522643.1:n.2200-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091468"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2533,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2533,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "XM_005257058.4:c.2398-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257115.2:n.2398-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534587"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1614,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1614,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "XM_005257059.4:c.1480-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257116.2:n.1480-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534588"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2515,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2515,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "NM_000088.4:c.2398-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000079.2:n.2398-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674695",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000225964.10:c.2398-1G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000088.4:c.2398-1G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000225964.6:n.2398-1G>C"
          },
          "RefSeq": {
            "hgvs": "NP_000079.2:n.2398-1G>C"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}