{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2288998081",
  "communityStandardTitle": [
    "NM_005406.3(ROCK1):c.3577C= (p.Pro1193=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057520015",
        "rs": 1057520015
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "G",
          "end": 20955181,
          "referenceAllele": "G",
          "start": 20955180
        }
      ],
      "hgvs": [
        "NC_000018.10:g.20955181G=",
        "CM000680.2:g.20955181G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "G",
          "end": 18535142,
          "referenceAllele": "G",
          "start": 18535141
        }
      ],
      "hgvs": [
        "NC_000018.9:g.18535142G=",
        "CM000680.1:g.18535142G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "G",
          "end": 16789140,
          "referenceAllele": "G",
          "start": 16789139
        }
      ],
      "hgvs": [
        "NC_000018.8:g.16789140G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 161671,
          "referenceAllele": "C",
          "start": 161670
        }
      ],
      "hgvs": [
        "NG_042178.2:g.161671C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005944"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3736,
          "referenceAllele": "C",
          "start": 3735
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010251",
      "geneNCBI_id": 6093,
      "geneSymbol": "ROCK1",
      "hgvs": [
        "ENST00000635540.2:c.*212C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489185.1:n.*212C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914386"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4480,
          "referenceAllele": "C",
          "start": 4479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010251",
      "geneNCBI_id": 6093,
      "geneSymbol": "ROCK1",
      "hgvs": [
        "ENST00000399799.3:c.3577C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382697.1:p.Pro1193="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753873",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000399799.3:c.3577C="
          },
          "RefSeq": {
            "hgvs": "NM_005406.3:c.3577C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000382697.1:p.Pro1193="
          },
          "RefSeq": {
            "hgvs": "NP_005397.1:p.Pro1193="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4518,
          "referenceAllele": "C",
          "start": 4517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010251",
      "geneNCBI_id": 6093,
      "geneSymbol": "ROCK1",
      "hgvs": [
        "ENST00000399799.2:c.3577C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382697.1:p.Pro1193="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278807"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 287,
          "referenceAllele": "C",
          "start": 286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010251",
      "geneNCBI_id": 6093,
      "geneSymbol": "ROCK1",
      "hgvs": [
        "ENST00000584687.1:n.287C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS388339"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3736,
          "referenceAllele": "C",
          "start": 3735
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010251",
      "geneNCBI_id": 6093,
      "geneSymbol": "ROCK1",
      "hgvs": [
        "ENST00000635540.1:c.*212C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489185.1:n.*212C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS408166"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3085600227",
      "coordinates": [
        {
          "allele": "C",
          "end": 4518,
          "referenceAllele": "C",
          "start": 4517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010251",
      "geneNCBI_id": 6093,
      "geneSymbol": "ROCK1",
      "hgvs": [
        "NM_005406.2:c.3577C="
      ],
      "proteinEffect": {
        "hgvs": "NP_005397.1:p.Pro1193="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030502"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4555,
          "referenceAllele": "C",
          "start": 4554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010251",
      "geneNCBI_id": 6093,
      "geneSymbol": "ROCK1",
      "hgvs": [
        "XM_011526136.1:c.3655C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011524438.1:p.Pro1219="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093243"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2263,
          "referenceAllele": "C",
          "start": 2262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010251",
      "geneNCBI_id": 6093,
      "geneSymbol": "ROCK1",
      "hgvs": [
        "XM_011526137.1:c.2188C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011524439.1:p.Pro730="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093244"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2752,
          "referenceAllele": "C",
          "start": 2751
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010251",
      "geneNCBI_id": 6093,
      "geneSymbol": "ROCK1",
      "hgvs": [
        "XM_011526137.3:c.2188C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011524439.1:p.Pro730="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548144"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3085600227",
      "coordinates": [
        {
          "allele": "C",
          "end": 4480,
          "referenceAllele": "C",
          "start": 4479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010251",
      "geneNCBI_id": 6093,
      "geneSymbol": "ROCK1",
      "hgvs": [
        "NM_005406.3:c.3577C="
      ],
      "proteinEffect": {
        "hgvs": "NP_005397.1:p.Pro1193="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666948",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000399799.3:c.3577C="
          },
          "RefSeq": {
            "hgvs": "NM_005406.3:c.3577C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000382697.1:p.Pro1193="
          },
          "RefSeq": {
            "hgvs": "NP_005397.1:p.Pro1193="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}