{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA138098",
  "communityStandardTitle": [
    "NM_032119.4(ADGRV1):c.3191A>C (p.Glu1064Ala)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM6458010"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=55477[alleleid]",
        "alleleId": 55477,
        "preferredName": "NM_032119.4(ADGRV1):c.3191A>C (p.Glu1064Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/46312",
        "RCV": [
          "RCV000039568",
          "RCV000146077",
          "RCV000954914",
          "RCV001151213",
          "RCV003389449",
          "RCV004549464"
        ],
        "variationId": 46312
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-89943483-A-C",
        "id": "5-89943483-A-C",
        "variant": "5:89943483 A / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.89943483A>C?assembly=hg19",
        "id": "chr5:g.89943483A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.90647666A>C?assembly=hg38",
        "id": "chr5:g.90647666A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/190922596",
        "rs": 190922596
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-89943483-A-C?dataset=gnomad_r2_1",
        "id": "5-89943483-A-C",
        "variant": "5:89943483 A / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-90647666-A-C?dataset=gnomad_r3",
        "id": "5-90647666-A-C",
        "variant": "5:90647666 A / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-90647666-A-C?dataset=gnomad_r4",
        "id": "5-90647666-A-C",
        "variant": "5:90647666 A / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 90647666,
          "referenceAllele": "A",
          "start": 90647665
        }
      ],
      "hgvs": [
        "NC_000005.10:g.90647666A>C",
        "CM000667.2:g.90647666A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 89943483,
          "referenceAllele": "A",
          "start": 89943482
        }
      ],
      "hgvs": [
        "NC_000005.9:g.89943483A>C",
        "CM000667.1:g.89943483A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 89979239,
          "referenceAllele": "A",
          "start": 89979238
        }
      ],
      "hgvs": [
        "NC_000005.8:g.89979239A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 93867,
          "referenceAllele": "A",
          "start": 93866
        }
      ],
      "hgvs": [
        "NG_007083.1:g.93867A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000463"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 123323,
          "referenceAllele": "A",
          "start": 123322
        }
      ],
      "hgvs": [
        "NG_007083.2:g.123323A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616065"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3290,
          "referenceAllele": "A",
          "start": 3289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "ENST00000405460.9:c.3191A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384582.2:p.Glu1064Ala",
        "hgvsWellDefined": "ENSP00000384582.2:p.Glu1064Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754126",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000405460.9:c.3191A>C"
          },
          "RefSeq": {
            "hgvs": "NM_032119.4:c.3191A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384582.2:p.Glu1064Ala"
          },
          "RefSeq": {
            "hgvs": "NP_115495.3:p.Glu1064Ala"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1957,
          "referenceAllele": "A",
          "start": 1956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "ENST00000504142.2:n.1957A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758002"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 789,
          "referenceAllele": "A",
          "start": 788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "ENST00000639676.1:n.789A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765131"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1102,
          "referenceAllele": "A",
          "start": 1101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "ENST00000640403.1:c.494A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492531.1:p.Glu165Ala",
        "hgvsWellDefined": "ENSP00000492531.1:p.Glu165Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765480"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3287,
          "referenceAllele": "A",
          "start": 3286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "ENST00000405460.6:c.3191A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384582.2:p.Glu1064Ala",
        "hgvsWellDefined": "ENSP00000384582.2:p.Glu1064Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280355"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1956,
          "referenceAllele": "A",
          "start": 1955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "ENST00000504142.1:c.1956A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS336288"
    },
    {
      "@id": "http://reg.genome.network/allele/PA138099",
      "coordinates": [
        {
          "allele": "C",
          "end": 3287,
          "referenceAllele": "A",
          "start": 3286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "NM_032119.3:c.3191A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_115495.3:p.Glu1064Ala",
        "hgvsWellDefined": "NP_115495.3:p.Glu1064Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038850"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3287,
          "referenceAllele": "A",
          "start": 3286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "NR_003149.1:n.3287A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS046177"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3282,
          "referenceAllele": "A",
          "start": 3281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_011543675.1:c.3191A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541977.1:p.Glu1064Ala",
        "hgvsWellDefined": "XP_011541977.1:p.Glu1064Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110592"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3282,
          "referenceAllele": "A",
          "start": 3281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_011543676.1:c.3191A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541978.1:p.Glu1064Ala",
        "hgvsWellDefined": "XP_011541978.1:p.Glu1064Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110593"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1101,
          "referenceAllele": "A",
          "start": 1100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_011543677.1:c.494A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541979.1:p.Glu165Ala",
        "hgvsWellDefined": "XP_011541979.1:p.Glu165Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110594"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3282,
          "referenceAllele": "A",
          "start": 3281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_011543678.1:c.3191A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541980.1:p.Glu1064Ala",
        "hgvsWellDefined": "XP_011541980.1:p.Glu1064Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110595"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3284,
          "referenceAllele": "A",
          "start": 3283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_011543679.1:c.3191A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541981.1:p.Glu1064Ala",
        "hgvsWellDefined": "XP_011541981.1:p.Glu1064Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110596"
    },
    {
      "@id": "http://reg.genome.network/allele/PA138099",
      "coordinates": [
        {
          "allele": "C",
          "end": 3290,
          "referenceAllele": "A",
          "start": 3289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "NM_032119.4:c.3191A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_115495.3:p.Glu1064Ala",
        "hgvsWellDefined": "NP_115495.3:p.Glu1064Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526295",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000405460.9:c.3191A>C"
          },
          "RefSeq": {
            "hgvs": "NM_032119.4:c.3191A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384582.2:p.Glu1064Ala"
          },
          "RefSeq": {
            "hgvs": "NP_115495.3:p.Glu1064Ala"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3283,
          "referenceAllele": "A",
          "start": 3282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009963.2:c.3191A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865452.1:p.Glu1064Ala",
        "hgvsWellDefined": "XP_016865452.1:p.Glu1064Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564136"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3283,
          "referenceAllele": "A",
          "start": 3282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009964.2:c.3191A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865453.1:p.Glu1064Ala",
        "hgvsWellDefined": "XP_016865453.1:p.Glu1064Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564137"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3288,
          "referenceAllele": "A",
          "start": 3287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009965.1:c.3188A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865454.1:p.Glu1063Ala",
        "hgvsWellDefined": "XP_016865454.1:p.Glu1063Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564138"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3283,
          "referenceAllele": "A",
          "start": 3282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009966.2:c.3191A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865455.1:p.Glu1064Ala",
        "hgvsWellDefined": "XP_016865455.1:p.Glu1064Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564139"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3195,
          "referenceAllele": "A",
          "start": 3194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009967.1:c.3095A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865456.1:p.Glu1032Ala",
        "hgvsWellDefined": "XP_016865456.1:p.Glu1032Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564140"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3283,
          "referenceAllele": "A",
          "start": 3282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009968.2:c.3191A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865457.1:p.Glu1064Ala",
        "hgvsWellDefined": "XP_016865457.1:p.Glu1064Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564141"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3283,
          "referenceAllele": "A",
          "start": 3282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009969.2:c.3191A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865458.1:p.Glu1064Ala",
        "hgvsWellDefined": "XP_016865458.1:p.Glu1064Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564142"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3283,
          "referenceAllele": "A",
          "start": 3282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009970.2:c.3191A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865459.1:p.Glu1064Ala",
        "hgvsWellDefined": "XP_016865459.1:p.Glu1064Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564143"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3283,
          "referenceAllele": "A",
          "start": 3282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009971.2:c.3191A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865460.1:p.Glu1064Ala",
        "hgvsWellDefined": "XP_016865460.1:p.Glu1064Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564144"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3283,
          "referenceAllele": "A",
          "start": 3282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009974.2:c.3191A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865463.1:p.Glu1064Ala",
        "hgvsWellDefined": "XP_016865463.1:p.Glu1064Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564147"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3290,
          "referenceAllele": "A",
          "start": 3289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "NR_003149.2:n.3290A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS701829"
    }
  ],
  "type": "nucleotide"
}