{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1562886171",
  "communityStandardTitle": [
    "NM_032119.4(ADGRV1):c.11410C= (p.Arg3804=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/767570081",
        "rs": 767570081
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 90755015,
          "referenceAllele": "C",
          "start": 90755014
        }
      ],
      "hgvs": [
        "NC_000005.10:g.90755015C=",
        "CM000667.2:g.90755015C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 90050832,
          "referenceAllele": "C",
          "start": 90050831
        }
      ],
      "hgvs": [
        "NC_000005.9:g.90050832C=",
        "CM000667.1:g.90050832C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 90086588,
          "referenceAllele": "C",
          "start": 90086587
        }
      ],
      "hgvs": [
        "NC_000005.8:g.90086588C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 201216,
          "referenceAllele": "C",
          "start": 201215
        }
      ],
      "hgvs": [
        "NG_007083.1:g.201216C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000463"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 230672,
          "referenceAllele": "C",
          "start": 230671
        }
      ],
      "hgvs": [
        "NG_007083.2:g.230672C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616065"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 11509,
          "referenceAllele": "C",
          "start": 11508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "ENST00000405460.9:c.11410C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384582.2:p.Arg3804="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754126",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000405460.9:c.11410C="
          },
          "RefSeq": {
            "hgvs": "NM_032119.4:c.11410C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384582.2:p.Arg3804="
          },
          "RefSeq": {
            "hgvs": "NP_115495.3:p.Arg3804="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 541,
          "referenceAllele": "C",
          "start": 540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "ENST00000425867.3:c.541C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392618.3:p.Arg181="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755103"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 265,
          "endIntronDirection": "+",
          "endIntronOffset": 78806,
          "referenceAllele": "C",
          "start": 265,
          "startIntronDirection": "+",
          "startIntronOffset": 78805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "ENST00000639431.1:c.265+78806C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491057.1:n.265+78806C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4554,
          "referenceAllele": "C",
          "start": 4553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "ENST00000640374.1:n.4554C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765466"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1829,
          "referenceAllele": "C",
          "start": 1828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "ENST00000640464.1:n.1829C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765510"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 11506,
          "referenceAllele": "C",
          "start": 11505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "ENST00000405460.6:c.11410C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384582.2:p.Arg3804="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280355"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4107,
          "referenceAllele": "C",
          "start": 4106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "ENST00000509621.1:c.4107C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS340347"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830084393",
      "coordinates": [
        {
          "allele": "C",
          "end": 11506,
          "referenceAllele": "C",
          "start": 11505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "NM_032119.3:c.11410C="
      ],
      "proteinEffect": {
        "hgvs": "NP_115495.3:p.Arg3804="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038850"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 11423,
          "referenceAllele": "C",
          "start": 11422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "NR_003149.1:n.11423C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS046177"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 11498,
          "referenceAllele": "C",
          "start": 11497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_011543675.1:c.11407C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011541977.1:p.Arg3803="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110592"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 11420,
          "referenceAllele": "C",
          "start": 11419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_011543676.1:c.11329C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011541978.1:p.Arg3777="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110593"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 9320,
          "referenceAllele": "C",
          "start": 9319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_011543677.1:c.8713C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011541979.1:p.Arg2905="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110594"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 11501,
          "referenceAllele": "C",
          "start": 11500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_011543678.1:c.11410C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011541980.1:p.Arg3804="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110595"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830084393",
      "coordinates": [
        {
          "allele": "C",
          "end": 11509,
          "referenceAllele": "C",
          "start": 11508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "NM_032119.4:c.11410C="
      ],
      "proteinEffect": {
        "hgvs": "NP_115495.3:p.Arg3804="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526295",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000405460.9:c.11410C="
          },
          "RefSeq": {
            "hgvs": "NM_032119.4:c.11410C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384582.2:p.Arg3804="
          },
          "RefSeq": {
            "hgvs": "NP_115495.3:p.Arg3804="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 11523,
          "referenceAllele": "C",
          "start": 11522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009963.2:c.11431C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016865452.1:p.Arg3811="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564136"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 11520,
          "referenceAllele": "C",
          "start": 11519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009964.2:c.11428C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016865453.1:p.Arg3810="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564137"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 11528,
          "referenceAllele": "C",
          "start": 11527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009965.1:c.11428C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016865454.1:p.Arg3810="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564138"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 11442,
          "referenceAllele": "C",
          "start": 11441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009966.2:c.11350C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016865455.1:p.Arg3784="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564139"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 11435,
          "referenceAllele": "C",
          "start": 11434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009967.1:c.11335C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016865456.1:p.Arg3779="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564140"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 11523,
          "referenceAllele": "C",
          "start": 11522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009968.2:c.11431C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016865457.1:p.Arg3811="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564141"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 11523,
          "referenceAllele": "C",
          "start": 11522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009969.2:c.11431C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016865458.1:p.Arg3811="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564142"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 11523,
          "referenceAllele": "C",
          "start": 11522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009970.2:c.11431C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016865459.1:p.Arg3811="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564143"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 11523,
          "referenceAllele": "C",
          "start": 11522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009971.2:c.11431C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016865460.1:p.Arg3811="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564144"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4928,
          "referenceAllele": "C",
          "start": 4927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009972.1:c.4549C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016865461.1:p.Arg1517="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564145"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6139,
          "referenceAllele": "C",
          "start": 6138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009973.1:c.4528C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016865462.1:p.Arg1510="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564146"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 11426,
          "referenceAllele": "C",
          "start": 11425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "NR_003149.2:n.11426C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS701829"
    }
  ],
  "type": "nucleotide"
}