{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA400203204",
  "communityStandardTitle": [
    "NM_000088.4(COL1A1):c.3073G>C (p.Gly1025Arg)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.48266129C>G?assembly=hg19",
        "id": "chr17:g.48266129C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.50188768C>G?assembly=hg38",
        "id": "chr17:g.50188768C>G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 50188768,
          "referenceAllele": "C",
          "start": 50188767
        }
      ],
      "hgvs": [
        "NC_000017.11:g.50188768C>G",
        "CM000679.2:g.50188768C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 48266129,
          "referenceAllele": "C",
          "start": 48266128
        }
      ],
      "hgvs": [
        "NC_000017.10:g.48266129C>G",
        "CM000679.1:g.48266129C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 45621128,
          "referenceAllele": "C",
          "start": 45621127
        }
      ],
      "hgvs": [
        "NC_000017.9:g.45621128C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 17872,
          "referenceAllele": "G",
          "start": 17871
        }
      ],
      "hgvs": [
        "NG_007400.1:g.17872G>C",
        "LRG_1:g.17872G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000567"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3191,
          "referenceAllele": "G",
          "start": 3190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "ENST00000225964.10:c.3073G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000225964.6:p.Gly1025Arg",
        "hgvsWellDefined": "ENSP00000225964.6:p.Gly1025Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740684",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000225964.10:c.3073G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000088.4:c.3073G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000225964.6:p.Gly1025Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000079.2:p.Gly1025Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3192,
          "referenceAllele": "G",
          "start": 3191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "ENST00000225964.9:c.3073G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000225964.5:p.Gly1025Arg",
        "hgvsWellDefined": "ENSP00000225964.5:p.Gly1025Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248535"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 17,
          "referenceAllele": "G",
          "start": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "ENST00000511732.1:n.17G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS341936"
    },
    {
      "@id": "http://reg.genome.network/allele/PA257847",
      "coordinates": [
        {
          "allele": "C",
          "end": 3199,
          "referenceAllele": "G",
          "start": 3198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "NM_000088.3:c.3073G>C",
        "LRG_1t1:c.3073G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000079.2:p.Gly1025Arg",
        "hgvsWellDefined": "NP_000079.2:p.Gly1025Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006152"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2938,
          "referenceAllele": "G",
          "start": 2937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "XM_005257058.3:c.2803G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257115.2:p.Gly935Arg",
        "hgvsWellDefined": "XP_005257115.2:p.Gly935Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061555"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2289,
          "referenceAllele": "G",
          "start": 2288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "XM_005257059.3:c.2155G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257116.2:p.Gly719Arg",
        "hgvsWellDefined": "XP_005257116.2:p.Gly719Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061556"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3010,
          "referenceAllele": "G",
          "start": 3009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "XM_011524341.1:c.2875G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522643.1:p.Gly959Arg",
        "hgvsWellDefined": "XP_011522643.1:p.Gly959Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091468"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2939,
          "referenceAllele": "G",
          "start": 2938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "XM_005257058.4:c.2803G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257115.2:p.Gly935Arg",
        "hgvsWellDefined": "XP_005257115.2:p.Gly935Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534587"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2290,
          "referenceAllele": "G",
          "start": 2289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "XM_005257059.4:c.2155G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257116.2:p.Gly719Arg",
        "hgvsWellDefined": "XP_005257116.2:p.Gly719Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534588"
    },
    {
      "@id": "http://reg.genome.network/allele/PA257847",
      "coordinates": [
        {
          "allele": "C",
          "end": 3191,
          "referenceAllele": "G",
          "start": 3190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "NM_000088.4:c.3073G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000079.2:p.Gly1025Arg",
        "hgvsWellDefined": "NP_000079.2:p.Gly1025Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674695",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000225964.10:c.3073G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000088.4:c.3073G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000225964.6:p.Gly1025Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000079.2:p.Gly1025Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}