{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA138236",
  "communityStandardTitle": [
    "NM_032119.4(ADGRV1):c.8161A>G (p.Ile2721Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=55551[alleleid]",
        "alleleId": 55551,
        "preferredName": "NM_032119.4(ADGRV1):c.8161A>G (p.Ile2721Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/46386",
        "RCV": [
          "RCV000039642",
          "RCV000724489",
          "RCV001151661"
        ],
        "variationId": 46386
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-89999487-A-G",
        "id": "5-89999487-A-G",
        "variant": "5:89999487 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.89999487A>G?assembly=hg19",
        "id": "chr5:g.89999487A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.90703670A>G?assembly=hg38",
        "id": "chr5:g.90703670A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/201963060",
        "rs": 201963060
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-89999487-A-G?dataset=gnomad_r2_1",
        "id": "5-89999487-A-G",
        "variant": "5:89999487 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-90703670-A-G?dataset=gnomad_r3",
        "id": "5-90703670-A-G",
        "variant": "5:90703670 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-90703670-A-G?dataset=gnomad_r4",
        "id": "5-90703670-A-G",
        "variant": "5:90703670 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 90703670,
          "referenceAllele": "A",
          "start": 90703669
        }
      ],
      "hgvs": [
        "NC_000005.10:g.90703670A>G",
        "CM000667.2:g.90703670A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 89999487,
          "referenceAllele": "A",
          "start": 89999486
        }
      ],
      "hgvs": [
        "NC_000005.9:g.89999487A>G",
        "CM000667.1:g.89999487A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 90035243,
          "referenceAllele": "A",
          "start": 90035242
        }
      ],
      "hgvs": [
        "NC_000005.8:g.90035243A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 149871,
          "referenceAllele": "A",
          "start": 149870
        }
      ],
      "hgvs": [
        "NG_007083.1:g.149871A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000463"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 179327,
          "referenceAllele": "A",
          "start": 179326
        }
      ],
      "hgvs": [
        "NG_007083.2:g.179327A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616065"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8260,
          "referenceAllele": "A",
          "start": 8259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "ENST00000405460.9:c.8161A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384582.2:p.Ile2721Val",
        "hgvsWellDefined": "ENSP00000384582.2:p.Ile2721Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754126",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000405460.9:c.8161A>G"
          },
          "RefSeq": {
            "hgvs": "NM_032119.4:c.8161A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384582.2:p.Ile2721Val"
          },
          "RefSeq": {
            "hgvs": "NP_115495.3:p.Ile2721Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 265,
          "endIntronDirection": "+",
          "endIntronOffset": 27461,
          "referenceAllele": "A",
          "start": 265,
          "startIntronDirection": "+",
          "startIntronOffset": 27460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "ENST00000639431.1:c.265+27461A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491057.1:n.265+27461A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3620,
          "referenceAllele": "A",
          "start": 3619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "ENST00000639473.1:n.3620A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765041"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1968,
          "referenceAllele": "A",
          "start": 1967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "ENST00000640012.1:c.1968A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765287"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1305,
          "referenceAllele": "A",
          "start": 1304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "ENST00000640374.1:n.1305A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765466"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6060,
          "referenceAllele": "A",
          "start": 6059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "ENST00000640403.1:c.5452A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492531.1:p.Ile1818Val",
        "hgvsWellDefined": "ENSP00000492531.1:p.Ile1818Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765480"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2890,
          "referenceAllele": "A",
          "start": 2889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "ENST00000640779.1:c.2890A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765671"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8257,
          "referenceAllele": "A",
          "start": 8256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "ENST00000405460.6:c.8161A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384582.2:p.Ile2721Val",
        "hgvsWellDefined": "ENSP00000384582.2:p.Ile2721Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280355"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 858,
          "referenceAllele": "A",
          "start": 857
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "ENST00000509621.1:c.858A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS340347"
    },
    {
      "@id": "http://reg.genome.network/allele/PA138237",
      "coordinates": [
        {
          "allele": "G",
          "end": 8257,
          "referenceAllele": "A",
          "start": 8256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "NM_032119.3:c.8161A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_115495.3:p.Ile2721Val",
        "hgvsWellDefined": "NP_115495.3:p.Ile2721Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038850"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8174,
          "referenceAllele": "A",
          "start": 8173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "NR_003149.1:n.8174A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS046177"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8249,
          "referenceAllele": "A",
          "start": 8248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_011543675.1:c.8158A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541977.1:p.Ile2720Val",
        "hgvsWellDefined": "XP_011541977.1:p.Ile2720Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110592"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8171,
          "referenceAllele": "A",
          "start": 8170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_011543676.1:c.8080A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541978.1:p.Ile2694Val",
        "hgvsWellDefined": "XP_011541978.1:p.Ile2694Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110593"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6071,
          "referenceAllele": "A",
          "start": 6070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_011543677.1:c.5464A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541979.1:p.Ile1822Val",
        "hgvsWellDefined": "XP_011541979.1:p.Ile1822Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110594"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8252,
          "referenceAllele": "A",
          "start": 8251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_011543678.1:c.8161A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541980.1:p.Ile2721Val",
        "hgvsWellDefined": "XP_011541980.1:p.Ile2721Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110595"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8254,
          "referenceAllele": "A",
          "start": 8253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_011543679.1:c.8161A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541981.1:p.Ile2721Val",
        "hgvsWellDefined": "XP_011541981.1:p.Ile2721Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110596"
    },
    {
      "@id": "http://reg.genome.network/allele/PA138237",
      "coordinates": [
        {
          "allele": "G",
          "end": 8260,
          "referenceAllele": "A",
          "start": 8259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "NM_032119.4:c.8161A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_115495.3:p.Ile2721Val",
        "hgvsWellDefined": "NP_115495.3:p.Ile2721Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526295",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000405460.9:c.8161A>G"
          },
          "RefSeq": {
            "hgvs": "NM_032119.4:c.8161A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384582.2:p.Ile2721Val"
          },
          "RefSeq": {
            "hgvs": "NP_115495.3:p.Ile2721Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8253,
          "referenceAllele": "A",
          "start": 8252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009963.2:c.8161A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865452.1:p.Ile2721Val",
        "hgvsWellDefined": "XP_016865452.1:p.Ile2721Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564136"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8250,
          "referenceAllele": "A",
          "start": 8249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009964.2:c.8158A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865453.1:p.Ile2720Val",
        "hgvsWellDefined": "XP_016865453.1:p.Ile2720Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564137"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8258,
          "referenceAllele": "A",
          "start": 8257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009965.1:c.8158A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865454.1:p.Ile2720Val",
        "hgvsWellDefined": "XP_016865454.1:p.Ile2720Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564138"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8172,
          "referenceAllele": "A",
          "start": 8171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009966.2:c.8080A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865455.1:p.Ile2694Val",
        "hgvsWellDefined": "XP_016865455.1:p.Ile2694Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564139"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8165,
          "referenceAllele": "A",
          "start": 8164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009967.1:c.8065A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865456.1:p.Ile2689Val",
        "hgvsWellDefined": "XP_016865456.1:p.Ile2689Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564140"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8253,
          "referenceAllele": "A",
          "start": 8252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009968.2:c.8161A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865457.1:p.Ile2721Val",
        "hgvsWellDefined": "XP_016865457.1:p.Ile2721Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564141"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8253,
          "referenceAllele": "A",
          "start": 8252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009969.2:c.8161A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865458.1:p.Ile2721Val",
        "hgvsWellDefined": "XP_016865458.1:p.Ile2721Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564142"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8253,
          "referenceAllele": "A",
          "start": 8252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009970.2:c.8161A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865459.1:p.Ile2721Val",
        "hgvsWellDefined": "XP_016865459.1:p.Ile2721Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564143"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8253,
          "referenceAllele": "A",
          "start": 8252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009971.2:c.8161A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865460.1:p.Ile2721Val",
        "hgvsWellDefined": "XP_016865460.1:p.Ile2721Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564144"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1658,
          "referenceAllele": "A",
          "start": 1657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009972.1:c.1279A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865461.1:p.Ile427Val",
        "hgvsWellDefined": "XP_016865461.1:p.Ile427Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564145"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2890,
          "referenceAllele": "A",
          "start": 2889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009973.1:c.1279A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865462.1:p.Ile427Val",
        "hgvsWellDefined": "XP_016865462.1:p.Ile427Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564146"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8253,
          "referenceAllele": "A",
          "start": 8252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009974.2:c.8161A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865463.1:p.Ile2721Val",
        "hgvsWellDefined": "XP_016865463.1:p.Ile2721Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564147"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8177,
          "referenceAllele": "A",
          "start": 8176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "NR_003149.2:n.8177A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS701829"
    }
  ],
  "type": "nucleotide"
}