{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA360410295",
  "communityStandardTitle": [
    "NM_032119.4(ADGRV1):c.5293T>C (p.Phe1765Leu)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.89971242T>C?assembly=hg19",
        "id": "chr5:g.89971242T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.90675425T>C?assembly=hg38",
        "id": "chr5:g.90675425T>C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 90675425,
          "referenceAllele": "T",
          "start": 90675424
        }
      ],
      "hgvs": [
        "NC_000005.10:g.90675425T>C",
        "CM000667.2:g.90675425T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 89971242,
          "referenceAllele": "T",
          "start": 89971241
        }
      ],
      "hgvs": [
        "NC_000005.9:g.89971242T>C",
        "CM000667.1:g.89971242T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 90006998,
          "referenceAllele": "T",
          "start": 90006997
        }
      ],
      "hgvs": [
        "NC_000005.8:g.90006998T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 121626,
          "referenceAllele": "T",
          "start": 121625
        }
      ],
      "hgvs": [
        "NG_007083.1:g.121626T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000463"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 151082,
          "referenceAllele": "T",
          "start": 151081
        }
      ],
      "hgvs": [
        "NG_007083.2:g.151082T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616065"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5392,
          "referenceAllele": "T",
          "start": 5391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "ENST00000405460.9:c.5293T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384582.2:p.Phe1765Leu",
        "hgvsWellDefined": "ENSP00000384582.2:p.Phe1765Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754126",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000405460.9:c.5293T>C"
          },
          "RefSeq": {
            "hgvs": "NM_032119.4:c.5293T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384582.2:p.Phe1765Leu"
          },
          "RefSeq": {
            "hgvs": "NP_115495.3:p.Phe1765Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 115,
          "referenceAllele": "T",
          "start": 114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "ENST00000639431.1:c.115T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491057.1:p.Phe39Leu",
        "hgvsWellDefined": "ENSP00000491057.1:p.Phe39Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 752,
          "referenceAllele": "T",
          "start": 751
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "ENST00000639473.1:n.752T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765041"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3192,
          "referenceAllele": "T",
          "start": 3191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "ENST00000640403.1:c.2584T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492531.1:p.Phe862Leu",
        "hgvsWellDefined": "ENSP00000492531.1:p.Phe862Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765480"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 108,
          "referenceAllele": "T",
          "start": 107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "ENST00000640779.1:c.108T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765671"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5389,
          "referenceAllele": "T",
          "start": 5388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "ENST00000405460.6:c.5293T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384582.2:p.Phe1765Leu",
        "hgvsWellDefined": "ENSP00000384582.2:p.Phe1765Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280355"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 628,
          "referenceAllele": "T",
          "start": 627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "ENST00000450321.2:n.628T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS300650"
    },
    {
      "@id": "http://reg.genome.network/allele/PA234097",
      "coordinates": [
        {
          "allele": "C",
          "end": 5389,
          "referenceAllele": "T",
          "start": 5388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "NM_032119.3:c.5293T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_115495.3:p.Phe1765Leu",
        "hgvsWellDefined": "NP_115495.3:p.Phe1765Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038850"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5389,
          "referenceAllele": "T",
          "start": 5388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "NR_003149.1:n.5389T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS046177"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5384,
          "referenceAllele": "T",
          "start": 5383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_011543675.1:c.5293T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541977.1:p.Phe1765Leu",
        "hgvsWellDefined": "XP_011541977.1:p.Phe1765Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110592"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5384,
          "referenceAllele": "T",
          "start": 5383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_011543676.1:c.5293T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541978.1:p.Phe1765Leu",
        "hgvsWellDefined": "XP_011541978.1:p.Phe1765Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110593"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3203,
          "referenceAllele": "T",
          "start": 3202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_011543677.1:c.2596T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541979.1:p.Phe866Leu",
        "hgvsWellDefined": "XP_011541979.1:p.Phe866Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110594"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5384,
          "referenceAllele": "T",
          "start": 5383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_011543678.1:c.5293T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541980.1:p.Phe1765Leu",
        "hgvsWellDefined": "XP_011541980.1:p.Phe1765Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110595"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5386,
          "referenceAllele": "T",
          "start": 5385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_011543679.1:c.5293T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541981.1:p.Phe1765Leu",
        "hgvsWellDefined": "XP_011541981.1:p.Phe1765Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110596"
    },
    {
      "@id": "http://reg.genome.network/allele/PA234097",
      "coordinates": [
        {
          "allele": "C",
          "end": 5392,
          "referenceAllele": "T",
          "start": 5391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "NM_032119.4:c.5293T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_115495.3:p.Phe1765Leu",
        "hgvsWellDefined": "NP_115495.3:p.Phe1765Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526295",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000405460.9:c.5293T>C"
          },
          "RefSeq": {
            "hgvs": "NM_032119.4:c.5293T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384582.2:p.Phe1765Leu"
          },
          "RefSeq": {
            "hgvs": "NP_115495.3:p.Phe1765Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5385,
          "referenceAllele": "T",
          "start": 5384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009963.2:c.5293T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865452.1:p.Phe1765Leu",
        "hgvsWellDefined": "XP_016865452.1:p.Phe1765Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564136"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5385,
          "referenceAllele": "T",
          "start": 5384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009964.2:c.5293T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865453.1:p.Phe1765Leu",
        "hgvsWellDefined": "XP_016865453.1:p.Phe1765Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564137"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5390,
          "referenceAllele": "T",
          "start": 5389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009965.1:c.5290T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865454.1:p.Phe1764Leu",
        "hgvsWellDefined": "XP_016865454.1:p.Phe1764Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564138"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5385,
          "referenceAllele": "T",
          "start": 5384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009966.2:c.5293T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865455.1:p.Phe1765Leu",
        "hgvsWellDefined": "XP_016865455.1:p.Phe1765Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564139"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5297,
          "referenceAllele": "T",
          "start": 5296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009967.1:c.5197T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865456.1:p.Phe1733Leu",
        "hgvsWellDefined": "XP_016865456.1:p.Phe1733Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564140"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5385,
          "referenceAllele": "T",
          "start": 5384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009968.2:c.5293T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865457.1:p.Phe1765Leu",
        "hgvsWellDefined": "XP_016865457.1:p.Phe1765Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564141"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5385,
          "referenceAllele": "T",
          "start": 5384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009969.2:c.5293T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865458.1:p.Phe1765Leu",
        "hgvsWellDefined": "XP_016865458.1:p.Phe1765Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564142"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5385,
          "referenceAllele": "T",
          "start": 5384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009970.2:c.5293T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865459.1:p.Phe1765Leu",
        "hgvsWellDefined": "XP_016865459.1:p.Phe1765Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564143"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5385,
          "referenceAllele": "T",
          "start": 5384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009971.2:c.5293T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865460.1:p.Phe1765Leu",
        "hgvsWellDefined": "XP_016865460.1:p.Phe1765Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564144"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 108,
          "referenceAllele": "T",
          "start": 107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009973.1:c.-1504T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865462.1:n.-1504T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564146"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5385,
          "referenceAllele": "T",
          "start": 5384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009974.2:c.5293T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865463.1:p.Phe1765Leu",
        "hgvsWellDefined": "XP_016865463.1:p.Phe1765Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564147"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5392,
          "referenceAllele": "T",
          "start": 5391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "NR_003149.2:n.5392T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS701829"
    }
  ],
  "type": "nucleotide"
}