{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA082633",
  "communityStandardTitle": [
    "NM_000069.3(CACNA1S):c.3584T>C (p.Ile1195Thr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=447633[alleleid]",
        "alleleId": 447633,
        "preferredName": "NM_000069.3(CACNA1S):c.3584T>C (p.Ile1195Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/473988",
        "RCV": [
          "RCV000546815",
          "RCV002506366",
          "RCV003487272"
        ],
        "variationId": 473988
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-201027561-A-G",
        "id": "1-201027561-A-G",
        "variant": "1:201027561 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.201027561A>G?assembly=hg19",
        "id": "chr1:g.201027561A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.201058433A>G?assembly=hg38",
        "id": "chr1:g.201058433A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/200366112",
        "rs": 200366112
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-201027561-A-G?dataset=gnomad_r2_1",
        "id": "1-201027561-A-G",
        "variant": "1:201027561 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-201058433-A-G?dataset=gnomad_r3",
        "id": "1-201058433-A-G",
        "variant": "1:201058433 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-201058433-A-G?dataset=gnomad_r4",
        "id": "1-201058433-A-G",
        "variant": "1:201058433 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 201058433,
          "referenceAllele": "A",
          "start": 201058432
        }
      ],
      "hgvs": [
        "NC_000001.11:g.201058433A>G",
        "CM000663.2:g.201058433A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 201027561,
          "referenceAllele": "A",
          "start": 201027560
        }
      ],
      "hgvs": [
        "NC_000001.10:g.201027561A>G",
        "CM000663.1:g.201027561A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 199294184,
          "referenceAllele": "A",
          "start": 199294183
        }
      ],
      "hgvs": [
        "NC_000001.9:g.199294184A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 59134,
          "referenceAllele": "T",
          "start": 59133
        }
      ],
      "hgvs": [
        "NG_009816.1:g.59134T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001653"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 59134,
          "referenceAllele": "T",
          "start": 59133
        }
      ],
      "hgvs": [
        "NG_009816.2:g.59134T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673532"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3671,
          "referenceAllele": "T",
          "start": 3670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "ENST00000362061.4:c.3584T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355192.3:p.Ile1195Thr",
        "hgvsWellDefined": "ENSP00000355192.3:p.Ile1195Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749587",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000362061.4:c.3584T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000069.3:c.3584T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355192.3:p.Ile1195Thr"
          },
          "RefSeq": {
            "hgvs": "NP_000060.2:p.Ile1195Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3950,
          "referenceAllele": "T",
          "start": 3949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "ENST00000679417.1:c.*2747T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506706.1:n.*2747T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779048"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 710,
          "referenceAllele": "T",
          "start": 709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "ENST00000680051.1:n.710T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779672"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3697,
          "referenceAllele": "T",
          "start": 3696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "ENST00000680059.1:c.*1102T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504944.1:n.*1102T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779680"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3671,
          "referenceAllele": "T",
          "start": 3670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "ENST00000681078.1:c.3584T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506645.1:p.Ile1195Thr",
        "hgvsWellDefined": "ENSP00000506645.1:p.Ile1195Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780691"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3671,
          "referenceAllele": "T",
          "start": 3670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "ENST00000681190.1:c.3584T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506428.1:p.Ile1195Thr",
        "hgvsWellDefined": "ENSP00000506428.1:p.Ile1195Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780801"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3611,
          "referenceAllele": "T",
          "start": 3610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "ENST00000681874.1:c.3524T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505162.1:p.Ile1175Thr",
        "hgvsWellDefined": "ENSP00000505162.1:p.Ile1175Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781475"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3811,
          "referenceAllele": "T",
          "start": 3810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "ENST00000362061.3:c.3584T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355192.3:p.Ile1195Thr",
        "hgvsWellDefined": "ENSP00000355192.3:p.Ile1195Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247221"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3696,
          "referenceAllele": "T",
          "start": 3695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "ENST00000367338.7:c.3584T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356307.3:p.Ile1195Thr",
        "hgvsWellDefined": "ENSP00000356307.3:p.Ile1195Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247424"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658662075",
      "coordinates": [
        {
          "allele": "C",
          "end": 3811,
          "referenceAllele": "T",
          "start": 3810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "NM_000069.2:c.3584T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000060.2:p.Ile1195Thr",
        "hgvsWellDefined": "NP_000060.2:p.Ile1195Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006133"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3677,
          "referenceAllele": "T",
          "start": 3676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "XM_005245478.2:c.3584T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245535.1:p.Ile1195Thr",
        "hgvsWellDefined": "XP_005245535.1:p.Ile1195Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057238"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3698,
          "referenceAllele": "T",
          "start": 3697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "XM_005245478.3:c.3584T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245535.1:p.Ile1195Thr",
        "hgvsWellDefined": "XP_005245535.1:p.Ile1195Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532434"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658662075",
      "coordinates": [
        {
          "allele": "C",
          "end": 3671,
          "referenceAllele": "T",
          "start": 3670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "NM_000069.3:c.3584T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000060.2:p.Ile1195Thr",
        "hgvsWellDefined": "NP_000060.2:p.Ile1195Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662308",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000362061.4:c.3584T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000069.3:c.3584T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355192.3:p.Ile1195Thr"
          },
          "RefSeq": {
            "hgvs": "NP_000060.2:p.Ile1195Thr"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}