{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA083346",
  "communityStandardTitle": [
    "NM_000069.3(CACNA1S):c.4436C>T (p.Thr1479Met)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=902059",
        "active": true,
        "id": "COSM902059"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1337232[alleleid]",
        "alleleId": 1337232,
        "preferredName": "NM_000069.3(CACNA1S):c.4436C>T (p.Thr1479Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1504357",
        "RCV": [
          "RCV002047777"
        ],
        "variationId": 1504357
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-201017715-G-A",
        "id": "1-201017715-G-A",
        "variant": "1:201017715 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.201017715G>A?assembly=hg19",
        "id": "chr1:g.201017715G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.201048587G>A?assembly=hg38",
        "id": "chr1:g.201048587G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/780785403",
        "rs": 780785403
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-201017715-G-A?dataset=gnomad_r2_1",
        "id": "1-201017715-G-A",
        "variant": "1:201017715 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-201048587-G-A?dataset=gnomad_r3",
        "id": "1-201048587-G-A",
        "variant": "1:201048587 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-201048587-G-A?dataset=gnomad_r4",
        "id": "1-201048587-G-A",
        "variant": "1:201048587 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 201048587,
          "referenceAllele": "G",
          "start": 201048586
        }
      ],
      "hgvs": [
        "NC_000001.11:g.201048587G>A",
        "CM000663.2:g.201048587G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 201017715,
          "referenceAllele": "G",
          "start": 201017714
        }
      ],
      "hgvs": [
        "NC_000001.10:g.201017715G>A",
        "CM000663.1:g.201017715G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 199284338,
          "referenceAllele": "G",
          "start": 199284337
        }
      ],
      "hgvs": [
        "NC_000001.9:g.199284338G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 68980,
          "referenceAllele": "C",
          "start": 68979
        }
      ],
      "hgvs": [
        "NG_009816.1:g.68980C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001653"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 68980,
          "referenceAllele": "C",
          "start": 68979
        }
      ],
      "hgvs": [
        "NG_009816.2:g.68980C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673532"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4523,
          "referenceAllele": "C",
          "start": 4522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "ENST00000362061.4:c.4436C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355192.3:p.Thr1479Met",
        "hgvsWellDefined": "ENSP00000355192.3:p.Thr1479Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749587",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000362061.4:c.4436C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000069.3:c.4436C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355192.3:p.Thr1479Met"
          },
          "RefSeq": {
            "hgvs": "NP_000060.2:p.Thr1479Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4802,
          "referenceAllele": "C",
          "start": 4801
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "ENST00000679417.1:c.*3599C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506706.1:n.*3599C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779048"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1562,
          "referenceAllele": "C",
          "start": 1561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "ENST00000680051.1:n.1562C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779672"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4549,
          "referenceAllele": "C",
          "start": 4548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "ENST00000680059.1:c.*1954C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504944.1:n.*1954C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779680"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4654,
          "referenceAllele": "C",
          "start": 4653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "ENST00000681078.1:c.*211C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506645.1:n.*211C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780691"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4572,
          "referenceAllele": "C",
          "start": 4571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "ENST00000681190.1:c.*618C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506428.1:n.*618C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780801"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4463,
          "referenceAllele": "C",
          "start": 4462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "ENST00000681874.1:c.4376C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505162.1:p.Thr1459Met",
        "hgvsWellDefined": "ENSP00000505162.1:p.Thr1459Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781475"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4663,
          "referenceAllele": "C",
          "start": 4662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "ENST00000362061.3:c.4436C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355192.3:p.Thr1479Met",
        "hgvsWellDefined": "ENSP00000355192.3:p.Thr1479Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247221"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4491,
          "referenceAllele": "C",
          "start": 4490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "ENST00000367338.7:c.4379C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356307.3:p.Thr1460Met",
        "hgvsWellDefined": "ENSP00000356307.3:p.Thr1460Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247424"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573160760",
      "coordinates": [
        {
          "allele": "T",
          "end": 4663,
          "referenceAllele": "C",
          "start": 4662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "NM_000069.2:c.4436C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000060.2:p.Thr1479Met",
        "hgvsWellDefined": "NP_000060.2:p.Thr1479Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006133"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4472,
          "referenceAllele": "C",
          "start": 4471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "XM_005245478.2:c.4379C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245535.1:p.Thr1460Met",
        "hgvsWellDefined": "XP_005245535.1:p.Thr1460Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057238"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4493,
          "referenceAllele": "C",
          "start": 4492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "XM_005245478.3:c.4379C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245535.1:p.Thr1460Met",
        "hgvsWellDefined": "XP_005245535.1:p.Thr1460Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532434"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573160760",
      "coordinates": [
        {
          "allele": "T",
          "end": 4523,
          "referenceAllele": "C",
          "start": 4522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "NM_000069.3:c.4436C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000060.2:p.Thr1479Met",
        "hgvsWellDefined": "NP_000060.2:p.Thr1479Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662308",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000362061.4:c.4436C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000069.3:c.4436C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355192.3:p.Thr1479Met"
          },
          "RefSeq": {
            "hgvs": "NP_000060.2:p.Thr1479Met"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}