{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1893413708",
  "communityStandardTitle": [
    "NM_001081.4(CUBN):c.3999C= (p.Cys1333=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/386833785",
        "rs": 386833785
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 17041051,
          "referenceAllele": "G",
          "start": 17041050
        }
      ],
      "hgvs": [
        "NC_000010.11:g.17041051G=",
        "CM000672.2:g.17041051G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 17083050,
          "referenceAllele": "G",
          "start": 17083049
        }
      ],
      "hgvs": [
        "NC_000010.10:g.17083050G=",
        "CM000672.1:g.17083050G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 17123056,
          "referenceAllele": "G",
          "start": 17123055
        }
      ],
      "hgvs": [
        "NC_000010.9:g.17123056G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 93767,
          "referenceAllele": "C",
          "start": 93766
        }
      ],
      "hgvs": [
        "NG_008967.1:g.93767C=",
        "LRG_540:g.93767C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001338"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4045,
          "referenceAllele": "C",
          "start": 4044
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002548",
      "geneNCBI_id": 8029,
      "geneSymbol": "CUBN",
      "hgvs": [
        "ENST00000377833.10:c.3999C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367064.4:p.Cys1333="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751981",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000377833.10:c.3999C="
          },
          "RefSeq": {
            "hgvs": "NM_001081.4:c.3999C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000367064.4:p.Cys1333="
          },
          "RefSeq": {
            "hgvs": "NP_001072.2:p.Cys1333="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4065,
          "referenceAllele": "C",
          "start": 4064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002548",
      "geneNCBI_id": 8029,
      "geneSymbol": "CUBN",
      "hgvs": [
        "ENST00000377833.8:c.3999C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367064.4:p.Cys1333="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271756"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3076776663",
      "coordinates": [
        {
          "allele": "C",
          "end": 4051,
          "referenceAllele": "C",
          "start": 4050
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002548",
      "geneNCBI_id": 8029,
      "geneSymbol": "CUBN",
      "hgvs": [
        "NM_001081.3:c.3999C=",
        "LRG_540t1:c.3999C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001072.2:p.Cys1333="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010324"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4483,
          "referenceAllele": "C",
          "start": 4482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002548",
      "geneNCBI_id": 8029,
      "geneSymbol": "CUBN",
      "hgvs": [
        "XM_011519708.1:c.3999C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011518010.1:p.Cys1333="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086880"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4726,
          "referenceAllele": "C",
          "start": 4725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002548",
      "geneNCBI_id": 8029,
      "geneSymbol": "CUBN",
      "hgvs": [
        "XM_011519708.2:c.3999C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011518010.1:p.Cys1333="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545453"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3076776663",
      "coordinates": [
        {
          "allele": "C",
          "end": 4045,
          "referenceAllele": "C",
          "start": 4044
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002548",
      "geneNCBI_id": 8029,
      "geneSymbol": "CUBN",
      "hgvs": [
        "NM_001081.4:c.3999C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001072.2:p.Cys1333="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676312",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000377833.10:c.3999C="
          },
          "RefSeq": {
            "hgvs": "NM_001081.4:c.3999C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000367064.4:p.Cys1333="
          },
          "RefSeq": {
            "hgvs": "NP_001072.2:p.Cys1333="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}