{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8645708",
  "communityStandardTitle": [
    "NM_000088.4(COL1A1):c.391C>A (p.Arg131=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=845640[alleleid]",
        "alleleId": 845640,
        "preferredName": "NM_000088.4(COL1A1):c.391C>A (p.Arg131=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/840863",
        "RCV": [
          "RCV001042968",
          "RCV001352694",
          "RCV002372774",
          "RCV004553577"
        ],
        "variationId": 840863
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-48276667-G-T",
        "id": "17-48276667-G-T",
        "variant": "17:48276667 G / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.48276667G>T?assembly=hg19",
        "id": "chr17:g.48276667G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.50199306G>T?assembly=hg38",
        "id": "chr17:g.50199306G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/776611767",
        "rs": 776611767
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-48276667-G-T?dataset=gnomad_r2_1",
        "id": "17-48276667-G-T",
        "variant": "17:48276667 G / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-50199306-G-T?dataset=gnomad_r3",
        "id": "17-50199306-G-T",
        "variant": "17:50199306 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-50199306-G-T?dataset=gnomad_r4",
        "id": "17-50199306-G-T",
        "variant": "17:50199306 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 50199306,
          "referenceAllele": "G",
          "start": 50199305
        }
      ],
      "hgvs": [
        "NC_000017.11:g.50199306G>T",
        "CM000679.2:g.50199306G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 48276667,
          "referenceAllele": "G",
          "start": 48276666
        }
      ],
      "hgvs": [
        "NC_000017.10:g.48276667G>T",
        "CM000679.1:g.48276667G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 45631666,
          "referenceAllele": "G",
          "start": 45631665
        }
      ],
      "hgvs": [
        "NC_000017.9:g.45631666G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7334,
          "referenceAllele": "C",
          "start": 7333
        }
      ],
      "hgvs": [
        "NG_007400.1:g.7334C>A",
        "LRG_1:g.7334C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000567"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 509,
          "referenceAllele": "C",
          "start": 508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "ENST00000225964.10:c.391C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000225964.6:p.Arg131="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740684",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000225964.10:c.391C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000088.4:c.391C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000225964.6:p.Arg131="
          },
          "RefSeq": {
            "hgvs": "NP_000079.2:p.Arg131="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 510,
          "referenceAllele": "C",
          "start": 509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "ENST00000225964.9:c.391C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000225964.5:p.Arg131="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248535"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 612,
          "referenceAllele": "C",
          "start": 611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "ENST00000474644.1:n.612C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316108"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 532,
          "referenceAllele": "C",
          "start": 531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "ENST00000507689.1:c.445C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460459.1:p.Arg149="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS338917"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825054100",
      "coordinates": [
        {
          "allele": "A",
          "end": 517,
          "referenceAllele": "C",
          "start": 516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "NM_000088.3:c.391C>A",
        "LRG_1t1:c.391C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000079.2:p.Arg131="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006152"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 526,
          "referenceAllele": "C",
          "start": 525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "XM_005257058.3:c.391C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257115.2:p.Arg131="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061555"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 525,
          "referenceAllele": "C",
          "start": 524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "XM_005257059.3:c.391C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257116.2:p.Arg131="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061556"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 526,
          "referenceAllele": "C",
          "start": 525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "XM_011524341.1:c.391C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522643.1:p.Arg131="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091468"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 527,
          "referenceAllele": "C",
          "start": 526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "XM_005257058.4:c.391C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257115.2:p.Arg131="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534587"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 526,
          "referenceAllele": "C",
          "start": 525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "XM_005257059.4:c.391C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257116.2:p.Arg131="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534588"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825054100",
      "coordinates": [
        {
          "allele": "A",
          "end": 509,
          "referenceAllele": "C",
          "start": 508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "NM_000088.4:c.391C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000079.2:p.Arg131="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674695",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000225964.10:c.391C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000088.4:c.391C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000225964.6:p.Arg131="
          },
          "RefSeq": {
            "hgvs": "NP_000079.2:p.Arg131="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}