{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2263914178",
  "communityStandardTitle": [
    "NM_000088.4(COL1A1):c.3897C= (p.Cys1299=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/34940368",
        "rs": 34940368
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 50186425,
          "referenceAllele": "G",
          "start": 50186424
        }
      ],
      "hgvs": [
        "NC_000017.11:g.50186425G=",
        "CM000679.2:g.50186425G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 48263786,
          "referenceAllele": "G",
          "start": 48263785
        }
      ],
      "hgvs": [
        "NC_000017.10:g.48263786G=",
        "CM000679.1:g.48263786G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 45618785,
          "referenceAllele": "G",
          "start": 45618784
        }
      ],
      "hgvs": [
        "NC_000017.9:g.45618785G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 20215,
          "referenceAllele": "C",
          "start": 20214
        }
      ],
      "hgvs": [
        "NG_007400.1:g.20215C=",
        "LRG_1:g.20215C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000567"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4015,
          "referenceAllele": "C",
          "start": 4014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "ENST00000225964.10:c.3897C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000225964.6:p.Cys1299="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740684",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000225964.10:c.3897C="
          },
          "RefSeq": {
            "hgvs": "NM_000088.4:c.3897C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000225964.6:p.Cys1299="
          },
          "RefSeq": {
            "hgvs": "NP_000079.2:p.Cys1299="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4016,
          "referenceAllele": "C",
          "start": 4015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "ENST00000225964.9:c.3897C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000225964.5:p.Cys1299="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248535"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 566,
          "referenceAllele": "C",
          "start": 565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "ENST00000510710.3:n.566C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS341139"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825055261",
      "coordinates": [
        {
          "allele": "C",
          "end": 4023,
          "referenceAllele": "C",
          "start": 4022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "NM_000088.3:c.3897C=",
        "LRG_1t1:c.3897C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000079.2:p.Cys1299="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006152"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3762,
          "referenceAllele": "C",
          "start": 3761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "XM_005257058.3:c.3627C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005257115.2:p.Cys1209="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061555"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3113,
          "referenceAllele": "C",
          "start": 3112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "XM_005257059.3:c.2979C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005257116.2:p.Cys993="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061556"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3834,
          "referenceAllele": "C",
          "start": 3833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "XM_011524341.1:c.3699C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011522643.1:p.Cys1233="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091468"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3763,
          "referenceAllele": "C",
          "start": 3762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "XM_005257058.4:c.3627C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005257115.2:p.Cys1209="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534587"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3114,
          "referenceAllele": "C",
          "start": 3113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "XM_005257059.4:c.2979C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005257116.2:p.Cys993="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534588"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825055261",
      "coordinates": [
        {
          "allele": "C",
          "end": 4015,
          "referenceAllele": "C",
          "start": 4014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "NM_000088.4:c.3897C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000079.2:p.Cys1299="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674695",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000225964.10:c.3897C="
          },
          "RefSeq": {
            "hgvs": "NM_000088.4:c.3897C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000225964.6:p.Cys1299="
          },
          "RefSeq": {
            "hgvs": "NP_000079.2:p.Cys1299="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}