{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8644395",
  "communityStandardTitle": [
    "NM_000088.4(COL1A1):c.3556C>G (p.Pro1186Ala)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=797560[alleleid]",
        "alleleId": 797560,
        "preferredName": "NM_000088.4(COL1A1):c.3556C>G (p.Pro1186Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/808289",
        "RCV": [
          "RCV000996575",
          "RCV001307345",
          "RCV002471007"
        ],
        "variationId": 808289
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-48264259-G-C",
        "id": "17-48264259-G-C",
        "variant": "17:48264259 G / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.48264259G>C?assembly=hg19",
        "id": "chr17:g.48264259G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.50186898G>C?assembly=hg38",
        "id": "chr17:g.50186898G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/766461654",
        "rs": 766461654
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-48264259-G-C?dataset=gnomad_r2_1",
        "id": "17-48264259-G-C",
        "variant": "17:48264259 G / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-50186898-G-C?dataset=gnomad_r3",
        "id": "17-50186898-G-C",
        "variant": "17:50186898 G / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-50186898-G-C?dataset=gnomad_r4",
        "id": "17-50186898-G-C",
        "variant": "17:50186898 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 50186898,
          "referenceAllele": "G",
          "start": 50186897
        }
      ],
      "hgvs": [
        "NC_000017.11:g.50186898G>C",
        "CM000679.2:g.50186898G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 48264259,
          "referenceAllele": "G",
          "start": 48264258
        }
      ],
      "hgvs": [
        "NC_000017.10:g.48264259G>C",
        "CM000679.1:g.48264259G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 45619258,
          "referenceAllele": "G",
          "start": 45619257
        }
      ],
      "hgvs": [
        "NC_000017.9:g.45619258G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 19742,
          "referenceAllele": "C",
          "start": 19741
        }
      ],
      "hgvs": [
        "NG_007400.1:g.19742C>G",
        "LRG_1:g.19742C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000567"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3674,
          "referenceAllele": "C",
          "start": 3673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "ENST00000225964.10:c.3556C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000225964.6:p.Pro1186Ala",
        "hgvsWellDefined": "ENSP00000225964.6:p.Pro1186Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740684",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000225964.10:c.3556C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000088.4:c.3556C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000225964.6:p.Pro1186Ala"
          },
          "RefSeq": {
            "hgvs": "NP_000079.2:p.Pro1186Ala"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3675,
          "referenceAllele": "C",
          "start": 3674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "ENST00000225964.9:c.3556C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000225964.5:p.Pro1186Ala",
        "hgvsWellDefined": "ENSP00000225964.5:p.Pro1186Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248535"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 225,
          "referenceAllele": "C",
          "start": 224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "ENST00000510710.3:n.225C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS341139"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915954668",
      "coordinates": [
        {
          "allele": "G",
          "end": 3682,
          "referenceAllele": "C",
          "start": 3681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "NM_000088.3:c.3556C>G",
        "LRG_1t1:c.3556C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000079.2:p.Pro1186Ala",
        "hgvsWellDefined": "NP_000079.2:p.Pro1186Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006152"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3421,
          "referenceAllele": "C",
          "start": 3420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "XM_005257058.3:c.3286C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257115.2:p.Pro1096Ala",
        "hgvsWellDefined": "XP_005257115.2:p.Pro1096Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061555"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2772,
          "referenceAllele": "C",
          "start": 2771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "XM_005257059.3:c.2638C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257116.2:p.Pro880Ala",
        "hgvsWellDefined": "XP_005257116.2:p.Pro880Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061556"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3493,
          "referenceAllele": "C",
          "start": 3492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "XM_011524341.1:c.3358C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522643.1:p.Pro1120Ala",
        "hgvsWellDefined": "XP_011522643.1:p.Pro1120Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091468"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3422,
          "referenceAllele": "C",
          "start": 3421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "XM_005257058.4:c.3286C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257115.2:p.Pro1096Ala",
        "hgvsWellDefined": "XP_005257115.2:p.Pro1096Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534587"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2773,
          "referenceAllele": "C",
          "start": 2772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "XM_005257059.4:c.2638C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257116.2:p.Pro880Ala",
        "hgvsWellDefined": "XP_005257116.2:p.Pro880Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534588"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915954668",
      "coordinates": [
        {
          "allele": "G",
          "end": 3674,
          "referenceAllele": "C",
          "start": 3673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "NM_000088.4:c.3556C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000079.2:p.Pro1186Ala",
        "hgvsWellDefined": "NP_000079.2:p.Pro1186Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674695",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000225964.10:c.3556C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000088.4:c.3556C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000225964.6:p.Pro1186Ala"
          },
          "RefSeq": {
            "hgvs": "NP_000079.2:p.Pro1186Ala"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}