{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16042451",
  "communityStandardTitle": [
    "NM_001378452.1(ITPR1):c.107G>A (p.Arg36His)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=359436[alleleid]",
        "alleleId": 359436,
        "preferredName": "NM_001378452.1(ITPR1):c.107G>A (p.Arg36His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/372854",
        "RCV": [
          "RCV000414716",
          "RCV000624443"
        ],
        "variationId": 372854
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.4562722G>A?assembly=hg19",
        "id": "chr3:g.4562722G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.4521038G>A?assembly=hg38",
        "id": "chr3:g.4521038G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057518026",
        "rs": 1057518026
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-4521038-G-A?dataset=gnomad_r4",
        "id": "3-4521038-G-A",
        "variant": "3:4521038 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 4521038,
          "referenceAllele": "G",
          "start": 4521037
        }
      ],
      "hgvs": [
        "NC_000003.12:g.4521038G>A",
        "CM000665.2:g.4521038G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 4562722,
          "referenceAllele": "G",
          "start": 4562721
        }
      ],
      "hgvs": [
        "NC_000003.11:g.4562722G>A",
        "CM000665.1:g.4562722G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 4537722,
          "referenceAllele": "G",
          "start": 4537721
        }
      ],
      "hgvs": [
        "NC_000003.10:g.4537722G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 32691,
          "referenceAllele": "G",
          "start": 32690
        }
      ],
      "hgvs": [
        "NG_016144.1:g.32691G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002976"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 107,
          "referenceAllele": "G",
          "start": 106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "ENST00000302640.13:c.107G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000306253.9:p.Arg36His",
        "hgvsWellDefined": "ENSP00000306253.9:p.Arg36His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823751"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 457,
          "referenceAllele": "G",
          "start": 456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "ENST00000354582.12:c.107G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346595.8:p.Arg36His",
        "hgvsWellDefined": "ENSP00000346595.8:p.Arg36His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824075"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 352,
          "referenceAllele": "G",
          "start": 351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "ENST00000443694.5:c.107G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000401671.2:p.Arg36His",
        "hgvsWellDefined": "ENSP00000401671.2:p.Arg36His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824944"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 435,
          "referenceAllele": "G",
          "start": 434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "ENST00000354582.11:c.107G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346595.8:p.Arg36His",
        "hgvsWellDefined": "ENSP00000346595.8:p.Arg36His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748579"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 460,
          "referenceAllele": "G",
          "start": 459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "ENST00000357086.10:c.107G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349597.4:p.Arg36His",
        "hgvsWellDefined": "ENSP00000349597.4:p.Arg36His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748891"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 107,
          "referenceAllele": "G",
          "start": 106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "ENST00000443694.4:c.107G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000401671.2:p.Arg36His",
        "hgvsWellDefined": "ENSP00000401671.2:p.Arg36His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755960"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 353,
          "referenceAllele": "G",
          "start": 352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "ENST00000456211.8:c.107G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000397885.2:p.Arg36His",
        "hgvsWellDefined": "ENSP00000397885.2:p.Arg36His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756549"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 455,
          "referenceAllele": "G",
          "start": 454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "ENST00000467056.6:c.107G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496995.1:p.Arg36His",
        "hgvsWellDefined": "ENSP00000496995.1:p.Arg36His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756890"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 269,
          "referenceAllele": "G",
          "start": 268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "ENST00000477577.2:n.269G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757225"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 255,
          "referenceAllele": "G",
          "start": 254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "ENST00000544951.6:c.107G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440564.1:p.Arg36His",
        "hgvsWellDefined": "ENSP00000440564.1:p.Arg36His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759786"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 351,
          "referenceAllele": "G",
          "start": 350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "ENST00000648266.1:c.107G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498014.1:p.Arg36His",
        "hgvsWellDefined": "ENSP00000498014.1:p.Arg36His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769873"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 112,
          "referenceAllele": "G",
          "start": 111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "ENST00000648309.1:c.107G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497026.1:p.Arg36His",
        "hgvsWellDefined": "ENSP00000497026.1:p.Arg36His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769900"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 457,
          "referenceAllele": "G",
          "start": 456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "ENST00000649015.2:c.107G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497605.1:p.Arg36His",
        "hgvsWellDefined": "ENSP00000497605.1:p.Arg36His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770307",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000649015.2:c.107G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001378452.1:c.107G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497605.1:p.Arg36His"
          },
          "RefSeq": {
            "hgvs": "NP_001365381.1:p.Arg36His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 460,
          "referenceAllele": "G",
          "start": 459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "ENST00000649669.1:n.460G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS770669"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 244,
          "referenceAllele": "G",
          "start": 243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "ENST00000650294.1:c.107G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498056.1:p.Arg36His",
        "hgvsWellDefined": "ENSP00000498056.1:p.Arg36His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771041"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 457,
          "referenceAllele": "G",
          "start": 456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "ENST00000302640.12:c.107G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000306253.8:p.Arg36His",
        "hgvsWellDefined": "ENSP00000306253.8:p.Arg36His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255217"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 457,
          "referenceAllele": "G",
          "start": 456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "ENST00000354582.10:c.107G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346595.7:p.Arg36His",
        "hgvsWellDefined": "ENSP00000346595.7:p.Arg36His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263174"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 455,
          "referenceAllele": "G",
          "start": 454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "ENST00000357086.9:c.107G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349597.4:p.Arg36His",
        "hgvsWellDefined": "ENSP00000349597.4:p.Arg36His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263981"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 107,
          "referenceAllele": "G",
          "start": 106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "ENST00000443694.3:c.107G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000401671.2:p.Arg36His",
        "hgvsWellDefined": "ENSP00000401671.2:p.Arg36His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS297462"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 455,
          "referenceAllele": "G",
          "start": 454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "ENST00000456211.7:c.107G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000397885.2:p.Arg36His",
        "hgvsWellDefined": "ENSP00000397885.2:p.Arg36His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303385"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 455,
          "referenceAllele": "G",
          "start": 454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "ENST00000467056.5:n.455G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS310265"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 457,
          "referenceAllele": "G",
          "start": 456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "ENST00000544951.5:c.107G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440564.1:p.Arg36His",
        "hgvsWellDefined": "ENSP00000440564.1:p.Arg36His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364840"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825503952",
      "coordinates": [
        {
          "allele": "A",
          "end": 457,
          "referenceAllele": "G",
          "start": 456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "NM_001099952.2:c.107G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001093422.2:p.Arg36His",
        "hgvsWellDefined": "NP_001093422.2:p.Arg36His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010841"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826053029",
      "coordinates": [
        {
          "allele": "A",
          "end": 457,
          "referenceAllele": "G",
          "start": 456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "NM_001168272.1:c.107G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161744.1:p.Arg36His",
        "hgvsWellDefined": "NP_001161744.1:p.Arg36His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015062"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645418046",
      "coordinates": [
        {
          "allele": "A",
          "end": 457,
          "referenceAllele": "G",
          "start": 456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "NM_002222.5:c.107G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002213.5:p.Arg36His",
        "hgvsWellDefined": "NP_002213.5:p.Arg36His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027541"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 457,
          "referenceAllele": "G",
          "start": 456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "XM_005265109.2:c.107G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265166.1:p.Arg36His",
        "hgvsWellDefined": "XP_005265166.1:p.Arg36His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064514"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 457,
          "referenceAllele": "G",
          "start": 456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "XM_005265110.2:c.107G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265167.1:p.Arg36His",
        "hgvsWellDefined": "XP_005265167.1:p.Arg36His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064515"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 457,
          "referenceAllele": "G",
          "start": 456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "XM_006713131.2:c.107G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713194.1:p.Arg36His",
        "hgvsWellDefined": "XP_006713194.1:p.Arg36His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070022"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 457,
          "referenceAllele": "G",
          "start": 456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "XM_011533681.1:c.107G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531983.1:p.Arg36His",
        "hgvsWellDefined": "XP_011531983.1:p.Arg36His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100702"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 426,
          "referenceAllele": "G",
          "start": 425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "XM_011533682.1:c.107G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531984.1:p.Arg36His",
        "hgvsWellDefined": "XP_011531984.1:p.Arg36His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100703"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 457,
          "referenceAllele": "G",
          "start": 456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "XM_011533683.1:c.107G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531985.1:p.Arg36His",
        "hgvsWellDefined": "XP_011531985.1:p.Arg36His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100704"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 457,
          "referenceAllele": "G",
          "start": 456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "XM_011533684.1:c.107G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531986.1:p.Arg36His",
        "hgvsWellDefined": "XP_011531986.1:p.Arg36His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100705"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 457,
          "referenceAllele": "G",
          "start": 456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "XM_011533685.1:c.107G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531987.1:p.Arg36His",
        "hgvsWellDefined": "XP_011531987.1:p.Arg36His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100706"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 457,
          "referenceAllele": "G",
          "start": 456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "XM_011533686.1:c.107G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531988.1:p.Arg36His",
        "hgvsWellDefined": "XP_011531988.1:p.Arg36His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100707"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 457,
          "referenceAllele": "G",
          "start": 456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "XM_011533687.1:c.107G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531989.1:p.Arg36His",
        "hgvsWellDefined": "XP_011531989.1:p.Arg36His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100708"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 457,
          "referenceAllele": "G",
          "start": 456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "XM_011533688.1:c.107G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531990.1:p.Arg36His",
        "hgvsWellDefined": "XP_011531990.1:p.Arg36His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100709"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 457,
          "referenceAllele": "G",
          "start": 456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "XM_011533689.1:c.107G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531991.1:p.Arg36His",
        "hgvsWellDefined": "XP_011531991.1:p.Arg36His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100710"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 457,
          "referenceAllele": "G",
          "start": 456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "XM_011533690.1:c.107G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531992.1:p.Arg36His",
        "hgvsWellDefined": "XP_011531992.1:p.Arg36His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100711"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 457,
          "referenceAllele": "G",
          "start": 456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "XM_011533691.1:c.107G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531993.1:p.Arg36His",
        "hgvsWellDefined": "XP_011531993.1:p.Arg36His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100712"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 457,
          "referenceAllele": "G",
          "start": 456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "XM_011533692.1:c.107G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531994.1:p.Arg36His",
        "hgvsWellDefined": "XP_011531994.1:p.Arg36His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100713"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 457,
          "referenceAllele": "G",
          "start": 456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "XM_005265109.3:c.107G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265166.1:p.Arg36His",
        "hgvsWellDefined": "XP_005265166.1:p.Arg36His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536004"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 457,
          "referenceAllele": "G",
          "start": 456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "XM_005265110.3:c.107G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265167.1:p.Arg36His",
        "hgvsWellDefined": "XP_005265167.1:p.Arg36His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536005"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 457,
          "referenceAllele": "G",
          "start": 456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "XM_006713131.3:c.107G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713194.1:p.Arg36His",
        "hgvsWellDefined": "XP_006713194.1:p.Arg36His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538441"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 383,
          "referenceAllele": "G",
          "start": 382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "XM_011533682.3:c.107G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531984.1:p.Arg36His",
        "hgvsWellDefined": "XP_011531984.1:p.Arg36His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551343"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 457,
          "referenceAllele": "G",
          "start": 456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "XM_011533683.3:c.107G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531985.1:p.Arg36His",
        "hgvsWellDefined": "XP_011531985.1:p.Arg36His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551344"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 457,
          "referenceAllele": "G",
          "start": 456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "XM_011533684.2:c.107G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531986.1:p.Arg36His",
        "hgvsWellDefined": "XP_011531986.1:p.Arg36His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551345"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 457,
          "referenceAllele": "G",
          "start": 456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "XM_011533685.2:c.107G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531987.1:p.Arg36His",
        "hgvsWellDefined": "XP_011531987.1:p.Arg36His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551346"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 457,
          "referenceAllele": "G",
          "start": 456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "XM_011533686.2:c.107G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531988.1:p.Arg36His",
        "hgvsWellDefined": "XP_011531988.1:p.Arg36His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551347"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 457,
          "referenceAllele": "G",
          "start": 456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "XM_011533687.2:c.107G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531989.1:p.Arg36His",
        "hgvsWellDefined": "XP_011531989.1:p.Arg36His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551348"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 457,
          "referenceAllele": "G",
          "start": 456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "XM_011533688.2:c.107G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531990.1:p.Arg36His",
        "hgvsWellDefined": "XP_011531990.1:p.Arg36His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551349"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 457,
          "referenceAllele": "G",
          "start": 456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "XM_011533690.2:c.107G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531992.1:p.Arg36His",
        "hgvsWellDefined": "XP_011531992.1:p.Arg36His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551350"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 457,
          "referenceAllele": "G",
          "start": 456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "XM_011533692.2:c.107G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531994.1:p.Arg36His",
        "hgvsWellDefined": "XP_011531994.1:p.Arg36His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551351"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 457,
          "referenceAllele": "G",
          "start": 456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "XM_017006357.2:c.107G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016861846.1:p.Arg36His",
        "hgvsWellDefined": "XP_016861846.1:p.Arg36His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561414"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 457,
          "referenceAllele": "G",
          "start": 456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "XM_017006358.1:c.107G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016861847.1:p.Arg36His",
        "hgvsWellDefined": "XP_016861847.1:p.Arg36His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561415"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825503952",
      "coordinates": [
        {
          "allele": "A",
          "end": 457,
          "referenceAllele": "G",
          "start": 456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "NM_001099952.3:c.107G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001093422.2:p.Arg36His",
        "hgvsWellDefined": "NP_001093422.2:p.Arg36His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676534"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645418046",
      "coordinates": [
        {
          "allele": "A",
          "end": 457,
          "referenceAllele": "G",
          "start": 456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "NM_002222.6:c.107G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002213.5:p.Arg36His",
        "hgvsWellDefined": "NP_002213.5:p.Arg36His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695483"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825503952",
      "coordinates": [
        {
          "allele": "A",
          "end": 457,
          "referenceAllele": "G",
          "start": 456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "NM_001099952.4:c.107G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001093422.2:p.Arg36His",
        "hgvsWellDefined": "NP_001093422.2:p.Arg36His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711995"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826053029",
      "coordinates": [
        {
          "allele": "A",
          "end": 457,
          "referenceAllele": "G",
          "start": 456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "NM_001168272.2:c.107G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161744.1:p.Arg36His",
        "hgvsWellDefined": "NP_001161744.1:p.Arg36His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713279"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828761613",
      "coordinates": [
        {
          "allele": "A",
          "end": 457,
          "referenceAllele": "G",
          "start": 456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "NM_001378452.1:c.107G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365381.1:p.Arg36His",
        "hgvsWellDefined": "NP_001365381.1:p.Arg36His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721704",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000649015.2:c.107G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001378452.1:c.107G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497605.1:p.Arg36His"
          },
          "RefSeq": {
            "hgvs": "NP_001365381.1:p.Arg36His"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA645418046",
      "coordinates": [
        {
          "allele": "A",
          "end": 457,
          "referenceAllele": "G",
          "start": 456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "NM_002222.7:c.107G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002213.5:p.Arg36His",
        "hgvsWellDefined": "NP_002213.5:p.Arg36His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727258"
    }
  ],
  "type": "nucleotide"
}