{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1562864640",
  "communityStandardTitle": [
    "NM_032119.4(ADGRV1):c.8495C= (p.Ser2832=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121909761",
        "rs": 121909761
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 90705508,
          "referenceAllele": "C",
          "start": 90705507
        }
      ],
      "hgvs": [
        "NC_000005.10:g.90705508C=",
        "CM000667.2:g.90705508C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 90001325,
          "referenceAllele": "C",
          "start": 90001324
        }
      ],
      "hgvs": [
        "NC_000005.9:g.90001325C=",
        "CM000667.1:g.90001325C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 90037081,
          "referenceAllele": "C",
          "start": 90037080
        }
      ],
      "hgvs": [
        "NC_000005.8:g.90037081C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 151709,
          "referenceAllele": "C",
          "start": 151708
        }
      ],
      "hgvs": [
        "NG_007083.1:g.151709C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000463"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 181165,
          "referenceAllele": "C",
          "start": 181164
        }
      ],
      "hgvs": [
        "NG_007083.2:g.181165C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616065"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8594,
          "referenceAllele": "C",
          "start": 8593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "ENST00000405460.9:c.8495C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384582.2:p.Ser2832="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754126",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000405460.9:c.8495C="
          },
          "RefSeq": {
            "hgvs": "NM_032119.4:c.8495C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384582.2:p.Ser2832="
          },
          "RefSeq": {
            "hgvs": "NP_115495.3:p.Ser2832="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 265,
          "endIntronDirection": "+",
          "endIntronOffset": 29299,
          "referenceAllele": "C",
          "start": 265,
          "startIntronDirection": "+",
          "startIntronOffset": 29298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "ENST00000639431.1:c.265+29299C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491057.1:n.265+29299C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3954,
          "referenceAllele": "C",
          "start": 3953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "ENST00000639473.1:n.3954C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765041"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2302,
          "referenceAllele": "C",
          "start": 2301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "ENST00000640012.1:c.2302C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765287"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1639,
          "referenceAllele": "C",
          "start": 1638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "ENST00000640374.1:n.1639C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765466"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6394,
          "referenceAllele": "C",
          "start": 6393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "ENST00000640403.1:c.5786C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492531.1:p.Ser1929="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765480"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3224,
          "referenceAllele": "C",
          "start": 3223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "ENST00000640779.1:c.3224C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765671"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8591,
          "referenceAllele": "C",
          "start": 8590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "ENST00000405460.6:c.8495C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384582.2:p.Ser2832="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280355"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1192,
          "referenceAllele": "C",
          "start": 1191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "ENST00000509621.1:c.1192C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS340347"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3070948608",
      "coordinates": [
        {
          "allele": "C",
          "end": 8591,
          "referenceAllele": "C",
          "start": 8590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "NM_032119.3:c.8495C="
      ],
      "proteinEffect": {
        "hgvs": "NP_115495.3:p.Ser2832="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038850"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8508,
          "referenceAllele": "C",
          "start": 8507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "NR_003149.1:n.8508C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS046177"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8583,
          "referenceAllele": "C",
          "start": 8582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_011543675.1:c.8492C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011541977.1:p.Ser2831="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110592"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8505,
          "referenceAllele": "C",
          "start": 8504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_011543676.1:c.8414C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011541978.1:p.Ser2805="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110593"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6405,
          "referenceAllele": "C",
          "start": 6404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_011543677.1:c.5798C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011541979.1:p.Ser1933="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110594"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8586,
          "referenceAllele": "C",
          "start": 8585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_011543678.1:c.8495C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011541980.1:p.Ser2832="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110595"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8588,
          "referenceAllele": "C",
          "start": 8587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_011543679.1:c.8495C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011541981.1:p.Ser2832="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110596"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3070948608",
      "coordinates": [
        {
          "allele": "C",
          "end": 8594,
          "referenceAllele": "C",
          "start": 8593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "NM_032119.4:c.8495C="
      ],
      "proteinEffect": {
        "hgvs": "NP_115495.3:p.Ser2832="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526295",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000405460.9:c.8495C="
          },
          "RefSeq": {
            "hgvs": "NM_032119.4:c.8495C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384582.2:p.Ser2832="
          },
          "RefSeq": {
            "hgvs": "NP_115495.3:p.Ser2832="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8608,
          "referenceAllele": "C",
          "start": 8607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009963.2:c.8516C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016865452.1:p.Ser2839="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564136"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8605,
          "referenceAllele": "C",
          "start": 8604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009964.2:c.8513C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016865453.1:p.Ser2838="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564137"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8613,
          "referenceAllele": "C",
          "start": 8612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009965.1:c.8513C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016865454.1:p.Ser2838="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564138"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8527,
          "referenceAllele": "C",
          "start": 8526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009966.2:c.8435C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016865455.1:p.Ser2812="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564139"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8520,
          "referenceAllele": "C",
          "start": 8519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009967.1:c.8420C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016865456.1:p.Ser2807="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564140"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8608,
          "referenceAllele": "C",
          "start": 8607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009968.2:c.8516C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016865457.1:p.Ser2839="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564141"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8608,
          "referenceAllele": "C",
          "start": 8607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009969.2:c.8516C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016865458.1:p.Ser2839="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564142"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8608,
          "referenceAllele": "C",
          "start": 8607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009970.2:c.8516C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016865459.1:p.Ser2839="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564143"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8608,
          "referenceAllele": "C",
          "start": 8607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009971.2:c.8516C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016865460.1:p.Ser2839="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564144"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2013,
          "referenceAllele": "C",
          "start": 2012
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009972.1:c.1634C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016865461.1:p.Ser545="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564145"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3224,
          "referenceAllele": "C",
          "start": 3223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009973.1:c.1613C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016865462.1:p.Ser538="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564146"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8608,
          "referenceAllele": "C",
          "start": 8607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009974.2:c.8516C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016865463.1:p.Ser2839="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564147"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8511,
          "referenceAllele": "C",
          "start": 8510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "NR_003149.2:n.8511C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS701829"
    }
  ],
  "type": "nucleotide"
}