{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA397112196",
  "communityStandardTitle": [
    "NM_001142864.4(PIEZO1):c.2431G>C (p.Glu811Gln)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.88800052C>G?assembly=hg19",
        "id": "chr16:g.88800052C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.88733644C>G?assembly=hg38",
        "id": "chr16:g.88733644C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1064796912",
        "rs": 1064796912
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-88733644-C-G?dataset=gnomad_r4",
        "id": "16-88733644-C-G",
        "variant": "16:88733644 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 88733644,
          "referenceAllele": "C",
          "start": 88733643
        }
      ],
      "hgvs": [
        "NC_000016.10:g.88733644C>G",
        "CM000678.2:g.88733644C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 88800052,
          "referenceAllele": "C",
          "start": 88800051
        }
      ],
      "hgvs": [
        "NC_000016.9:g.88800052C>G",
        "CM000678.1:g.88800052C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 87327553,
          "referenceAllele": "C",
          "start": 87327552
        }
      ],
      "hgvs": [
        "NC_000016.8:g.87327553C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 56577,
          "referenceAllele": "G",
          "start": 56576
        }
      ],
      "hgvs": [
        "NG_042229.1:g.56577G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005964"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2687,
          "referenceAllele": "G",
          "start": 2686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028993",
      "geneNCBI_id": 9780,
      "geneSymbol": "PIEZO1",
      "hgvs": [
        "ENST00000301015.14:c.2431G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301015.9:p.Glu811Gln",
        "hgvsWellDefined": "ENSP00000301015.9:p.Glu811Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744801",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301015.14:c.2431G>C"
          },
          "RefSeq": {
            "hgvs": "NM_001142864.4:c.2431G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301015.9:p.Glu811Gln"
          },
          "RefSeq": {
            "hgvs": "NP_001136336.2:p.Glu811Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2678,
          "referenceAllele": "G",
          "start": 2677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028993",
      "geneNCBI_id": 9780,
      "geneSymbol": "PIEZO1",
      "hgvs": [
        "ENST00000301015.13:c.2431G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301015.9:p.Glu811Gln",
        "hgvsWellDefined": "ENSP00000301015.9:p.Glu811Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254941"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3083289573",
      "coordinates": [
        {
          "allele": "C",
          "end": 2431,
          "referenceAllele": "G",
          "start": 2430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028993",
      "geneNCBI_id": 9780,
      "geneSymbol": "PIEZO1",
      "hgvs": [
        "NM_001142864.2:c.2431G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136336.2:p.Glu811Gln",
        "hgvsWellDefined": "NP_001136336.2:p.Glu811Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013079"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3083289573",
      "coordinates": [
        {
          "allele": "C",
          "end": 2687,
          "referenceAllele": "G",
          "start": 2686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028993",
      "geneNCBI_id": 9780,
      "geneSymbol": "PIEZO1",
      "hgvs": [
        "NM_001142864.3:c.2431G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136336.2:p.Glu811Gln",
        "hgvsWellDefined": "NP_001136336.2:p.Glu811Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013080"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 269,
          "endIntronDirection": "+",
          "endIntronOffset": 2196,
          "referenceAllele": "C",
          "start": 269,
          "startIntronDirection": "+",
          "startIntronOffset": 2195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN056095",
      "geneNCBI_id": 100289580,
      "geneSymbol": "HSALR1",
      "hgvs": [
        "NR_103774.1:n.269+2196C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS053033"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3083289573",
      "coordinates": [
        {
          "allele": "C",
          "end": 2687,
          "referenceAllele": "G",
          "start": 2686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028993",
      "geneNCBI_id": 9780,
      "geneSymbol": "PIEZO1",
      "hgvs": [
        "NM_001142864.4:c.2431G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136336.2:p.Glu811Gln",
        "hgvsWellDefined": "NP_001136336.2:p.Glu811Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511563",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301015.14:c.2431G>C"
          },
          "RefSeq": {
            "hgvs": "NM_001142864.4:c.2431G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301015.9:p.Glu811Gln"
          },
          "RefSeq": {
            "hgvs": "NP_001136336.2:p.Glu811Gln"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}