{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3233783943",
  "communityStandardTitle": [
    "NM_001127222.2(CACNA1A):c.6114G= (p.Met2038=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1064796199",
        "rs": 1064796199
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 13212459,
          "referenceAllele": "C",
          "start": 13212458
        }
      ],
      "hgvs": [
        "NC_000019.10:g.13212459C=",
        "CM000681.2:g.13212459C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 13323273,
          "referenceAllele": "C",
          "start": 13323272
        }
      ],
      "hgvs": [
        "NC_000019.9:g.13323273C=",
        "CM000681.1:g.13323273C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 13184273,
          "referenceAllele": "C",
          "start": 13184272
        }
      ],
      "hgvs": [
        "NC_000019.8:g.13184273C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 299002,
          "referenceAllele": "G",
          "start": 299001
        }
      ],
      "hgvs": [
        "NG_011569.1:g.299002G=",
        "LRG_7:g.299002G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001829"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6369,
          "referenceAllele": "G",
          "start": 6368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000360228.11:c.6114G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353362.5:p.Met2038="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749291",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000360228.11:c.6114G="
          },
          "RefSeq": {
            "hgvs": "NM_001127222.2:c.6114G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000353362.5:p.Met2038="
          },
          "RefSeq": {
            "hgvs": "NP_001120694.1:p.Met2038="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6151,
          "referenceAllele": "G",
          "start": 6150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000573710.7:c.6120G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460092.3:p.Met2040="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760716"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1275,
          "referenceAllele": "G",
          "start": 1274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000585802.6:c.1275G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465598.2:p.Met425="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761009"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6117,
          "referenceAllele": "G",
          "start": 6116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000635727.1:c.6117G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490001.1:p.Met2039="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762598"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6388,
          "referenceAllele": "G",
          "start": 6387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000635895.1:c.6117G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490323.1:p.Met2039="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762719"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6117,
          "referenceAllele": "G",
          "start": 6116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000636012.1:c.6117G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490223.1:p.Met2039="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762807"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6165,
          "referenceAllele": "G",
          "start": 6164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000636389.1:c.6117G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489992.1:p.Met2039="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763077"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 984,
          "referenceAllele": "G",
          "start": 983
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000636473.1:c.984G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490173.1:p.Met328="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763139"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6123,
          "referenceAllele": "G",
          "start": 6122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000636549.1:c.6123G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490578.1:p.Met2041="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763201"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1031,
          "referenceAllele": "G",
          "start": 1030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000636610.1:n.1031G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763248"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 644,
          "referenceAllele": "G",
          "start": 643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000636768.1:c.644G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490190.1:n.644G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763365"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6117,
          "referenceAllele": "G",
          "start": 6116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000637276.1:c.6117G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489777.1:p.Met2039="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763746"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6368,
          "referenceAllele": "G",
          "start": 6367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000637432.1:c.6132G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490617.1:p.Met2044="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763858"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6211,
          "referenceAllele": "G",
          "start": 6210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000637736.1:c.5976G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489861.1:p.Met1992="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764074"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6373,
          "referenceAllele": "G",
          "start": 6372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000637769.1:c.6117G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489778.1:p.Met2039="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764094"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6151,
          "referenceAllele": "G",
          "start": 6150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000637927.1:c.6120G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489715.1:p.Met2040="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764214"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6372,
          "referenceAllele": "G",
          "start": 6371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000638009.2:c.6117G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489913.1:p.Met2039="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764272"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6368,
          "referenceAllele": "G",
          "start": 6367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000638029.1:c.6132G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489829.1:p.Met2044="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764286"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6318,
          "referenceAllele": "G",
          "start": 6317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000664864.1:c.6318G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499449.1:p.Met2106="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772875"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6114,
          "referenceAllele": "G",
          "start": 6113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000360228.9:c.6114G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353362.5:p.Met2038="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265055"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6396,
          "referenceAllele": "G",
          "start": 6395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000573710.6:c.6117G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460092.2:p.Met2039="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS383401"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2172,
          "referenceAllele": "G",
          "start": 2171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000585802.5:c.2172G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465598.1:p.Met724="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS388955"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1575,
          "referenceAllele": "G",
          "start": 1574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000587525.5:c.1575G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467729.1:p.Met525="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS390149"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6132,
          "referenceAllele": "G",
          "start": 6131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000614285.4:c.6132G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479983.1:p.Met2044="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402117"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3086116974",
      "coordinates": [
        {
          "allele": "G",
          "end": 6368,
          "referenceAllele": "G",
          "start": 6367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "NM_000068.3:c.6132G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000059.3:p.Met2044="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006132"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6353,
          "referenceAllele": "G",
          "start": 6352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "NM_001127221.1:c.6117G=",
        "LRG_7t1:c.6117G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001120693.1:p.Met2039="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011554"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6350,
          "referenceAllele": "G",
          "start": 6349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "NM_001127222.1:c.6114G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001120694.1:p.Met2038="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011555"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6359,
          "referenceAllele": "G",
          "start": 6358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "NM_001174080.1:c.6123G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001167551.1:p.Met2041="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015653"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6368,
          "referenceAllele": "G",
          "start": 6367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "NM_023035.2:c.6132G="
      ],
      "proteinEffect": {
        "hgvs": "NP_075461.2:p.Met2044="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037547"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3086116974",
      "coordinates": [
        {
          "allele": "G",
          "end": 6387,
          "referenceAllele": "G",
          "start": 6386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "NM_000068.4:c.6132G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000059.3:p.Met2044="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674685"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6369,
          "referenceAllele": "G",
          "start": 6368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "NM_001127222.2:c.6114G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001120694.1:p.Met2038="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676856",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000360228.11:c.6114G="
          },
          "RefSeq": {
            "hgvs": "NM_001127222.2:c.6114G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000353362.5:p.Met2038="
          },
          "RefSeq": {
            "hgvs": "NP_001120694.1:p.Met2038="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6378,
          "referenceAllele": "G",
          "start": 6377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "NM_001174080.2:c.6123G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001167551.1:p.Met2041="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678846"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6387,
          "referenceAllele": "G",
          "start": 6386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "NM_023035.3:c.6132G="
      ],
      "proteinEffect": {
        "hgvs": "NP_075461.2:p.Met2044="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698619"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6372,
          "referenceAllele": "G",
          "start": 6371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "NM_001127221.2:c.6117G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001120693.1:p.Met2039="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712197"
    }
  ],
  "type": "nucleotide"
}