{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2241248402",
  "communityStandardTitle": [
    "NM_001142864.4(PIEZO1):c.6682C= (p.Gln2228=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/869025598",
        "rs": 869025598
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 88716877,
          "referenceAllele": "G",
          "start": 88716876
        }
      ],
      "hgvs": [
        "NC_000016.10:g.88716877G=",
        "CM000678.2:g.88716877G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 88783285,
          "referenceAllele": "G",
          "start": 88783284
        }
      ],
      "hgvs": [
        "NC_000016.9:g.88783285G=",
        "CM000678.1:g.88783285G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 87310786,
          "referenceAllele": "G",
          "start": 87310785
        }
      ],
      "hgvs": [
        "NC_000016.8:g.87310786G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 73344,
          "referenceAllele": "C",
          "start": 73343
        }
      ],
      "hgvs": [
        "NG_042229.1:g.73344C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005964"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6938,
          "referenceAllele": "C",
          "start": 6937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028993",
      "geneNCBI_id": 9780,
      "geneSymbol": "PIEZO1",
      "hgvs": [
        "ENST00000301015.14:c.6682C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301015.9:p.Gln2228="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744801",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301015.14:c.6682C="
          },
          "RefSeq": {
            "hgvs": "NM_001142864.4:c.6682C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301015.9:p.Gln2228="
          },
          "RefSeq": {
            "hgvs": "NP_001136336.2:p.Gln2228="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1741,
          "referenceAllele": "C",
          "start": 1740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028993",
      "geneNCBI_id": 9780,
      "geneSymbol": "PIEZO1",
      "hgvs": [
        "ENST00000484567.6:n.1741C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757475"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6929,
          "referenceAllele": "C",
          "start": 6928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028993",
      "geneNCBI_id": 9780,
      "geneSymbol": "PIEZO1",
      "hgvs": [
        "ENST00000301015.13:c.6682C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301015.9:p.Gln2228="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254941"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 286,
          "referenceAllele": "C",
          "start": 285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028993",
      "geneNCBI_id": 9780,
      "geneSymbol": "PIEZO1",
      "hgvs": [
        "ENST00000327397.8:c.286C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000333704.7:p.Gln96="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258758"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 527,
          "referenceAllele": "C",
          "start": 526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028993",
      "geneNCBI_id": 9780,
      "geneSymbol": "PIEZO1",
      "hgvs": [
        "ENST00000419505.5:c.527C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406358.1:n.527C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285918"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1318,
          "referenceAllele": "C",
          "start": 1317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028993",
      "geneNCBI_id": 9780,
      "geneSymbol": "PIEZO1",
      "hgvs": [
        "ENST00000484567.5:n.1318C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS323793"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3083227057",
      "coordinates": [
        {
          "allele": "C",
          "end": 6682,
          "referenceAllele": "C",
          "start": 6681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028993",
      "geneNCBI_id": 9780,
      "geneSymbol": "PIEZO1",
      "hgvs": [
        "NM_001142864.2:c.6682C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001136336.2:p.Gln2228="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013079"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3083227057",
      "coordinates": [
        {
          "allele": "C",
          "end": 6938,
          "referenceAllele": "C",
          "start": 6937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028993",
      "geneNCBI_id": 9780,
      "geneSymbol": "PIEZO1",
      "hgvs": [
        "NM_001142864.3:c.6682C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001136336.2:p.Gln2228="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013080"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3083227057",
      "coordinates": [
        {
          "allele": "C",
          "end": 6938,
          "referenceAllele": "C",
          "start": 6937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028993",
      "geneNCBI_id": 9780,
      "geneSymbol": "PIEZO1",
      "hgvs": [
        "NM_001142864.4:c.6682C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001136336.2:p.Gln2228="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511563",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301015.14:c.6682C="
          },
          "RefSeq": {
            "hgvs": "NM_001142864.4:c.6682C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301015.9:p.Gln2228="
          },
          "RefSeq": {
            "hgvs": "NP_001136336.2:p.Gln2228="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}