{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA083540",
  "communityStandardTitle": [
    "NM_000069.3(CACNA1S):c.4690G>A (p.Glu1564Lys)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1689592",
        "active": true,
        "id": "COSM1689592"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=556773[alleleid]",
        "alleleId": 556773,
        "preferredName": "NM_000069.3(CACNA1S):c.4690G>A (p.Glu1564Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/583120",
        "RCV": [
          "RCV000707372",
          "RCV001555937"
        ],
        "variationId": 583120
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-201013563-C-T",
        "id": "1-201013563-C-T",
        "variant": "1:201013563 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.201013563C>T?assembly=hg19",
        "id": "chr1:g.201013563C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.201044435C>T?assembly=hg38",
        "id": "chr1:g.201044435C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/368421264",
        "rs": 368421264
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-201013563-C-T?dataset=gnomad_r2_1",
        "id": "1-201013563-C-T",
        "variant": "1:201013563 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-201044435-C-T?dataset=gnomad_r3",
        "id": "1-201044435-C-T",
        "variant": "1:201044435 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-201044435-C-T?dataset=gnomad_r4",
        "id": "1-201044435-C-T",
        "variant": "1:201044435 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 201044435,
          "referenceAllele": "C",
          "start": 201044434
        }
      ],
      "hgvs": [
        "NC_000001.11:g.201044435C>T",
        "CM000663.2:g.201044435C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 201013563,
          "referenceAllele": "C",
          "start": 201013562
        }
      ],
      "hgvs": [
        "NC_000001.10:g.201013563C>T",
        "CM000663.1:g.201013563C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 199280186,
          "referenceAllele": "C",
          "start": 199280185
        }
      ],
      "hgvs": [
        "NC_000001.9:g.199280186C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 73132,
          "referenceAllele": "G",
          "start": 73131
        }
      ],
      "hgvs": [
        "NG_009816.1:g.73132G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001653"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 73132,
          "referenceAllele": "G",
          "start": 73131
        }
      ],
      "hgvs": [
        "NG_009816.2:g.73132G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673532"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4777,
          "referenceAllele": "G",
          "start": 4776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "ENST00000362061.4:c.4690G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355192.3:p.Glu1564Lys",
        "hgvsWellDefined": "ENSP00000355192.3:p.Glu1564Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749587",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000362061.4:c.4690G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000069.3:c.4690G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355192.3:p.Glu1564Lys"
          },
          "RefSeq": {
            "hgvs": "NP_000060.2:p.Glu1564Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5056,
          "referenceAllele": "G",
          "start": 5055
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "ENST00000679417.1:c.*3853G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506706.1:n.*3853G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779048"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1816,
          "referenceAllele": "G",
          "start": 1815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "ENST00000680051.1:n.1816G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779672"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4803,
          "referenceAllele": "G",
          "start": 4802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "ENST00000680059.1:c.*2208G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504944.1:n.*2208G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779680"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4908,
          "referenceAllele": "G",
          "start": 4907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "ENST00000681078.1:c.*465G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506645.1:n.*465G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780691"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4826,
          "referenceAllele": "G",
          "start": 4825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "ENST00000681190.1:c.*872G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506428.1:n.*872G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780801"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4717,
          "referenceAllele": "G",
          "start": 4716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "ENST00000681874.1:c.4630G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505162.1:p.Glu1544Lys",
        "hgvsWellDefined": "ENSP00000505162.1:p.Glu1544Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781475"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4917,
          "referenceAllele": "G",
          "start": 4916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "ENST00000362061.3:c.4690G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355192.3:p.Glu1564Lys",
        "hgvsWellDefined": "ENSP00000355192.3:p.Glu1564Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247221"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4745,
          "referenceAllele": "G",
          "start": 4744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "ENST00000367338.7:c.4633G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356307.3:p.Glu1545Lys",
        "hgvsWellDefined": "ENSP00000356307.3:p.Glu1545Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247424"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891846559",
      "coordinates": [
        {
          "allele": "A",
          "end": 4917,
          "referenceAllele": "G",
          "start": 4916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "NM_000069.2:c.4690G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000060.2:p.Glu1564Lys",
        "hgvsWellDefined": "NP_000060.2:p.Glu1564Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006133"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4726,
          "referenceAllele": "G",
          "start": 4725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "XM_005245478.2:c.4633G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245535.1:p.Glu1545Lys",
        "hgvsWellDefined": "XP_005245535.1:p.Glu1545Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057238"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4747,
          "referenceAllele": "G",
          "start": 4746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "XM_005245478.3:c.4633G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245535.1:p.Glu1545Lys",
        "hgvsWellDefined": "XP_005245535.1:p.Glu1545Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532434"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891846559",
      "coordinates": [
        {
          "allele": "A",
          "end": 4777,
          "referenceAllele": "G",
          "start": 4776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "NM_000069.3:c.4690G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000060.2:p.Glu1564Lys",
        "hgvsWellDefined": "NP_000060.2:p.Glu1564Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662308",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000362061.4:c.4690G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000069.3:c.4690G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355192.3:p.Glu1564Lys"
          },
          "RefSeq": {
            "hgvs": "NP_000060.2:p.Glu1564Lys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}