{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA261266",
  "communityStandardTitle": [
    "NM_000088.4(COL1A1):c.4160C>T (p.Ala1387Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=49906[alleleid]",
        "alleleId": 49906,
        "preferredName": "NM_000088.4(COL1A1):c.4160C>T (p.Ala1387Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/41470",
        "RCV": [
          "RCV000034355"
        ],
        "variationId": 41470
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.48263227G>A?assembly=hg19",
        "id": "chr17:g.48263227G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.50185866G>A?assembly=hg38",
        "id": "chr17:g.50185866G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/397514672",
        "rs": 397514672
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 50185866,
          "referenceAllele": "G",
          "start": 50185865
        }
      ],
      "hgvs": [
        "NC_000017.11:g.50185866G>A",
        "CM000679.2:g.50185866G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 48263227,
          "referenceAllele": "G",
          "start": 48263226
        }
      ],
      "hgvs": [
        "NC_000017.10:g.48263227G>A",
        "CM000679.1:g.48263227G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 45618226,
          "referenceAllele": "G",
          "start": 45618225
        }
      ],
      "hgvs": [
        "NC_000017.9:g.45618226G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 20774,
          "referenceAllele": "C",
          "start": 20773
        }
      ],
      "hgvs": [
        "NG_007400.1:g.20774C>T",
        "LRG_1:g.20774C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000567"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4278,
          "referenceAllele": "C",
          "start": 4277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "ENST00000225964.10:c.4160C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000225964.6:p.Ala1387Val",
        "hgvsWellDefined": "ENSP00000225964.6:p.Ala1387Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740684",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000225964.10:c.4160C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000088.4:c.4160C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000225964.6:p.Ala1387Val"
          },
          "RefSeq": {
            "hgvs": "NP_000079.2:p.Ala1387Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4279,
          "referenceAllele": "C",
          "start": 4278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "ENST00000225964.9:c.4160C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000225964.5:p.Ala1387Val",
        "hgvsWellDefined": "ENSP00000225964.5:p.Ala1387Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248535"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1125,
          "referenceAllele": "C",
          "start": 1124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "ENST00000510710.3:n.1125C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS341139"
    },
    {
      "@id": "http://reg.genome.network/allele/PA261268",
      "coordinates": [
        {
          "allele": "T",
          "end": 4286,
          "referenceAllele": "C",
          "start": 4285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "NM_000088.3:c.4160C>T",
        "LRG_1t1:c.4160C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000079.2:p.Ala1387Val",
        "hgvsWellDefined": "NP_000079.2:p.Ala1387Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006152"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4025,
          "referenceAllele": "C",
          "start": 4024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "XM_005257058.3:c.3890C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257115.2:p.Ala1297Val",
        "hgvsWellDefined": "XP_005257115.2:p.Ala1297Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061555"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3376,
          "referenceAllele": "C",
          "start": 3375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "XM_005257059.3:c.3242C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257116.2:p.Ala1081Val",
        "hgvsWellDefined": "XP_005257116.2:p.Ala1081Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061556"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4097,
          "referenceAllele": "C",
          "start": 4096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "XM_011524341.1:c.3962C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522643.1:p.Ala1321Val",
        "hgvsWellDefined": "XP_011522643.1:p.Ala1321Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091468"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4026,
          "referenceAllele": "C",
          "start": 4025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "XM_005257058.4:c.3890C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257115.2:p.Ala1297Val",
        "hgvsWellDefined": "XP_005257115.2:p.Ala1297Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534587"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3377,
          "referenceAllele": "C",
          "start": 3376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "XM_005257059.4:c.3242C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257116.2:p.Ala1081Val",
        "hgvsWellDefined": "XP_005257116.2:p.Ala1081Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534588"
    },
    {
      "@id": "http://reg.genome.network/allele/PA261268",
      "coordinates": [
        {
          "allele": "T",
          "end": 4278,
          "referenceAllele": "C",
          "start": 4277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "NM_000088.4:c.4160C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000079.2:p.Ala1387Val",
        "hgvsWellDefined": "NP_000079.2:p.Ala1387Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674695",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000225964.10:c.4160C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000088.4:c.4160C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000225964.6:p.Ala1387Val"
          },
          "RefSeq": {
            "hgvs": "NP_000079.2:p.Ala1387Val"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}