{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8645148",
  "communityStandardTitle": [
    "NM_000088.4(COL1A1):c.1669-31T>C"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSN15662995"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=669424[alleleid]",
        "alleleId": 669424,
        "preferredName": "NM_000088.4(COL1A1):c.1669-31T>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/674803",
        "RCV": [
          "RCV000834129",
          "RCV001000206"
        ],
        "variationId": 674803
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-48271433-A-G",
        "id": "17-48271433-A-G",
        "variant": "17:48271433 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.48271433A>G?assembly=hg19",
        "id": "chr17:g.48271433A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.50194072A>G?assembly=hg38",
        "id": "chr17:g.50194072A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1007086",
        "rs": 1007086
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-48271433-A-G?dataset=gnomad_r2_1",
        "id": "17-48271433-A-G",
        "variant": "17:48271433 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-50194072-A-G?dataset=gnomad_r3",
        "id": "17-50194072-A-G",
        "variant": "17:50194072 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-50194072-A-G?dataset=gnomad_r4",
        "id": "17-50194072-A-G",
        "variant": "17:50194072 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 50194072,
          "referenceAllele": "A",
          "start": 50194071
        }
      ],
      "hgvs": [
        "NC_000017.11:g.50194072A>G",
        "CM000679.2:g.50194072A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 48271433,
          "referenceAllele": "A",
          "start": 48271432
        }
      ],
      "hgvs": [
        "NC_000017.10:g.48271433A>G",
        "CM000679.1:g.48271433A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 45626432,
          "referenceAllele": "A",
          "start": 45626431
        }
      ],
      "hgvs": [
        "NC_000017.9:g.45626432A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12568,
          "referenceAllele": "T",
          "start": 12567
        }
      ],
      "hgvs": [
        "NG_007400.1:g.12568T>C",
        "LRG_1:g.12568T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000567"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1786,
          "endIntronDirection": "-",
          "endIntronOffset": 30,
          "referenceAllele": "T",
          "start": 1786,
          "startIntronDirection": "-",
          "startIntronOffset": 31
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "ENST00000225964.10:c.1669-31T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000225964.6:n.1669-31T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740684",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000225964.10:c.1669-31T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000088.4:c.1669-31T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000225964.6:n.1669-31T>C"
          },
          "RefSeq": {
            "hgvs": "NP_000079.2:n.1669-31T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1787,
          "endIntronDirection": "-",
          "endIntronOffset": 30,
          "referenceAllele": "T",
          "start": 1787,
          "startIntronDirection": "-",
          "startIntronOffset": 31
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "ENST00000225964.9:c.1669-31T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000225964.5:n.1669-31T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248535"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 58,
          "endIntronDirection": "-",
          "endIntronOffset": 30,
          "referenceAllele": "T",
          "start": 58,
          "startIntronDirection": "-",
          "startIntronOffset": 31
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "ENST00000463440.1:n.59-31T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS307475"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 670,
          "referenceAllele": "T",
          "start": 669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "ENST00000471344.1:n.670T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS313565"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1794,
          "endIntronDirection": "-",
          "endIntronOffset": 30,
          "referenceAllele": "T",
          "start": 1794,
          "startIntronDirection": "-",
          "startIntronOffset": 31
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "NM_000088.3:c.1669-31T>C",
        "LRG_1t1:c.1669-31T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000079.2:n.1669-31T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006152"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1803,
          "endIntronDirection": "-",
          "endIntronOffset": 30,
          "referenceAllele": "T",
          "start": 1803,
          "startIntronDirection": "-",
          "startIntronOffset": 31
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "XM_005257058.3:c.1669-31T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257115.2:n.1669-31T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061555"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1091,
          "endIntronDirection": "-",
          "endIntronOffset": 1378,
          "referenceAllele": "T",
          "start": 1091,
          "startIntronDirection": "-",
          "startIntronOffset": 1379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "XM_005257059.3:c.958-1379T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257116.2:n.958-1379T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061556"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1605,
          "endIntronDirection": "-",
          "endIntronOffset": 30,
          "referenceAllele": "T",
          "start": 1605,
          "startIntronDirection": "-",
          "startIntronOffset": 31
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "XM_011524341.1:c.1471-31T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522643.1:n.1471-31T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091468"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1804,
          "endIntronDirection": "-",
          "endIntronOffset": 30,
          "referenceAllele": "T",
          "start": 1804,
          "startIntronDirection": "-",
          "startIntronOffset": 31
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "XM_005257058.4:c.1669-31T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257115.2:n.1669-31T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534587"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1092,
          "endIntronDirection": "-",
          "endIntronOffset": 1378,
          "referenceAllele": "T",
          "start": 1092,
          "startIntronDirection": "-",
          "startIntronOffset": 1379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "XM_005257059.4:c.958-1379T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257116.2:n.958-1379T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534588"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1786,
          "endIntronDirection": "-",
          "endIntronOffset": 30,
          "referenceAllele": "T",
          "start": 1786,
          "startIntronDirection": "-",
          "startIntronOffset": 31
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "NM_000088.4:c.1669-31T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000079.2:n.1669-31T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674695",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000225964.10:c.1669-31T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000088.4:c.1669-31T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000225964.6:n.1669-31T>C"
          },
          "RefSeq": {
            "hgvs": "NP_000079.2:n.1669-31T>C"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}