{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1978001812",
  "communityStandardTitle": [
    "NM_000738.3(CHRM1):c.-79+3460G="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/544978",
        "rs": 544978
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 62917758,
          "referenceAllele": "C",
          "start": 62917757
        }
      ],
      "hgvs": [
        "NC_000011.10:g.62917758C=",
        "CM000673.2:g.62917758C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 62685230,
          "referenceAllele": "C",
          "start": 62685229
        }
      ],
      "hgvs": [
        "NC_000011.9:g.62685230C=",
        "CM000673.1:g.62685230C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 62441806,
          "referenceAllele": "C",
          "start": 62441805
        }
      ],
      "hgvs": [
        "NC_000011.8:g.62441806C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 146,
          "endIntronDirection": "+",
          "endIntronOffset": 3460,
          "referenceAllele": "G",
          "start": 146,
          "startIntronDirection": "+",
          "startIntronOffset": 3459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001950",
      "geneNCBI_id": 1128,
      "geneSymbol": "CHRM1",
      "hgvs": [
        "ENST00000306960.4:c.-79+3460G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000306490.3:n.-79+3460G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745334",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000306960.4:c.-79+3460G="
          },
          "RefSeq": {
            "hgvs": "NM_000738.3:c.-79+3460G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000306490.3:n.-79+3460G="
          },
          "RefSeq": {
            "hgvs": "NP_000729.2:n.-79+3460G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 464,
          "endIntronDirection": "+",
          "endIntronOffset": 3460,
          "referenceAllele": "G",
          "start": 464,
          "startIntronDirection": "+",
          "startIntronOffset": 3459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001950",
      "geneNCBI_id": 1128,
      "geneSymbol": "CHRM1",
      "hgvs": [
        "ENST00000306960.3:c.-79+3460G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000306490.3:n.-79+3460G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255816"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 682,
          "endIntronDirection": "+",
          "endIntronOffset": 2915,
          "referenceAllele": "G",
          "start": 682,
          "startIntronDirection": "+",
          "startIntronOffset": 2914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001950",
      "geneNCBI_id": 1128,
      "geneSymbol": "CHRM1",
      "hgvs": [
        "ENST00000543973.1:c.-79+2915G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441188.1:n.-79+2915G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364321"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 323,
          "endIntronDirection": "+",
          "endIntronOffset": 3460,
          "referenceAllele": "G",
          "start": 323,
          "startIntronDirection": "+",
          "startIntronOffset": 3459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001950",
      "geneNCBI_id": 1128,
      "geneSymbol": "CHRM1",
      "hgvs": [
        "NM_000738.2:c.-79+3460G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000729.2:n.-79+3460G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006772"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 24,
          "endIntronDirection": "+",
          "endIntronOffset": 4080,
          "referenceAllele": "G",
          "start": 24,
          "startIntronDirection": "+",
          "startIntronOffset": 4079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001950",
      "geneNCBI_id": 1128,
      "geneSymbol": "CHRM1",
      "hgvs": [
        "XM_011544742.1:c.-79+4080G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011543044.1:n.-79+4080G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111652"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 24,
          "endIntronDirection": "+",
          "endIntronOffset": 4080,
          "referenceAllele": "G",
          "start": 24,
          "startIntronDirection": "+",
          "startIntronOffset": 4079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001950",
      "geneNCBI_id": 1128,
      "geneSymbol": "CHRM1",
      "hgvs": [
        "XM_011544742.2:c.-79+4080G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011543044.1:n.-79+4080G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555798"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 393,
          "endIntronDirection": "-",
          "endIntronOffset": 167,
          "referenceAllele": "C",
          "start": 393,
          "startIntronDirection": "-",
          "startIntronOffset": 168
        }
      ],
      "hgvs": [
        "XR_002957251.1:n.394-168C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS603387"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 146,
          "endIntronDirection": "+",
          "endIntronOffset": 3460,
          "referenceAllele": "G",
          "start": 146,
          "startIntronDirection": "+",
          "startIntronOffset": 3459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001950",
      "geneNCBI_id": 1128,
      "geneSymbol": "CHRM1",
      "hgvs": [
        "NM_000738.3:c.-79+3460G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000729.2:n.-79+3460G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662557",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000306960.4:c.-79+3460G="
          },
          "RefSeq": {
            "hgvs": "NM_000738.3:c.-79+3460G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000306490.3:n.-79+3460G="
          },
          "RefSeq": {
            "hgvs": "NP_000729.2:n.-79+3460G="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}