{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA260282",
  "communityStandardTitle": [
    "NM_000088.4(COL1A1):c.1768-8C>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=44568[alleleid]",
        "alleleId": 44568,
        "preferredName": "NM_000088.4(COL1A1):c.1768-8C>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/35904",
        "RCV": [
          "RCV000029559",
          "RCV001125671",
          "RCV002251930",
          "RCV000872415",
          "RCV001703422",
          "RCV001125670"
        ],
        "variationId": 35904
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-48270416-G-A",
        "id": "17-48270416-G-A",
        "variant": "17:48270416 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.48270416G>A?assembly=hg19",
        "id": "chr17:g.48270416G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.50193055G>A?assembly=hg38",
        "id": "chr17:g.50193055G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/193922142",
        "rs": 193922142
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-48270416-G-A?dataset=gnomad_r2_1",
        "id": "17-48270416-G-A",
        "variant": "17:48270416 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-50193055-G-A?dataset=gnomad_r3",
        "id": "17-50193055-G-A",
        "variant": "17:50193055 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-50193055-G-A?dataset=gnomad_r4",
        "id": "17-50193055-G-A",
        "variant": "17:50193055 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 50193055,
          "referenceAllele": "G",
          "start": 50193054
        }
      ],
      "hgvs": [
        "NC_000017.11:g.50193055G>A",
        "CM000679.2:g.50193055G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 48270416,
          "referenceAllele": "G",
          "start": 48270415
        }
      ],
      "hgvs": [
        "NC_000017.10:g.48270416G>A",
        "CM000679.1:g.48270416G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 45625415,
          "referenceAllele": "G",
          "start": 45625414
        }
      ],
      "hgvs": [
        "NC_000017.9:g.45625415G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13585,
          "referenceAllele": "C",
          "start": 13584
        }
      ],
      "hgvs": [
        "NG_007400.1:g.13585C>T",
        "LRG_1:g.13585C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000567"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1885,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "C",
          "start": 1885,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "ENST00000225964.10:c.1768-8C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000225964.6:n.1768-8C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740684",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000225964.10:c.1768-8C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000088.4:c.1768-8C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000225964.6:n.1768-8C>T"
          },
          "RefSeq": {
            "hgvs": "NP_000079.2:n.1768-8C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1886,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "C",
          "start": 1886,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "ENST00000225964.9:c.1768-8C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000225964.5:n.1768-8C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248535"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 116,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "C",
          "start": 116,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "ENST00000476387.1:n.117-8C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS317454"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1893,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "C",
          "start": 1893,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "NM_000088.3:c.1768-8C>T",
        "LRG_1t1:c.1768-8C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000079.2:n.1768-8C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006152"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1902,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "C",
          "start": 1902,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "XM_005257058.3:c.1768-8C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257115.2:n.1768-8C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061555"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1091,
          "endIntronDirection": "-",
          "endIntronOffset": 361,
          "referenceAllele": "C",
          "start": 1091,
          "startIntronDirection": "-",
          "startIntronOffset": 362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "XM_005257059.3:c.958-362C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257116.2:n.958-362C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061556"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1704,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "C",
          "start": 1704,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "XM_011524341.1:c.1570-8C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522643.1:n.1570-8C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091468"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1903,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "C",
          "start": 1903,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "XM_005257058.4:c.1768-8C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257115.2:n.1768-8C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534587"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1092,
          "endIntronDirection": "-",
          "endIntronOffset": 361,
          "referenceAllele": "C",
          "start": 1092,
          "startIntronDirection": "-",
          "startIntronOffset": 362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "XM_005257059.4:c.958-362C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257116.2:n.958-362C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534588"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1885,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "C",
          "start": 1885,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "NM_000088.4:c.1768-8C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000079.2:n.1768-8C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674695",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000225964.10:c.1768-8C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000088.4:c.1768-8C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000225964.6:n.1768-8C>T"
          },
          "RefSeq": {
            "hgvs": "NP_000079.2:n.1768-8C>T"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}