{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1995897709",
  "communityStandardTitle": [
    "NM_004621.6(TRPC6):c.2455C= (p.Leu819=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/878853187",
        "rs": 878853187
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 101469456,
          "referenceAllele": "G",
          "start": 101469455
        }
      ],
      "hgvs": [
        "NC_000011.10:g.101469456G=",
        "CM000673.2:g.101469456G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 101340187,
          "referenceAllele": "G",
          "start": 101340186
        }
      ],
      "hgvs": [
        "NC_000011.9:g.101340187G=",
        "CM000673.1:g.101340187G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 100845397,
          "referenceAllele": "G",
          "start": 100845396
        }
      ],
      "hgvs": [
        "NC_000011.8:g.100845397G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 119473,
          "referenceAllele": "C",
          "start": 119472
        }
      ],
      "hgvs": [
        "NG_011476.1:g.119473C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001744"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 119473,
          "referenceAllele": "C",
          "start": 119472
        }
      ],
      "hgvs": [
        "NG_011476.2:g.119473C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673539"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2959,
          "referenceAllele": "C",
          "start": 2958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012338",
      "geneNCBI_id": 7225,
      "geneSymbol": "TRPC6",
      "hgvs": [
        "ENST00000344327.8:c.2455C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340913.3:p.Leu819="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748208",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000344327.8:c.2455C="
          },
          "RefSeq": {
            "hgvs": "NM_004621.6:c.2455C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000340913.3:p.Leu819="
          },
          "RefSeq": {
            "hgvs": "NP_004612.2:p.Leu819="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2880,
          "referenceAllele": "C",
          "start": 2879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012338",
      "geneNCBI_id": 7225,
      "geneSymbol": "TRPC6",
      "hgvs": [
        "ENST00000344327.7:c.2455C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340913.3:p.Leu819="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261948"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2107,
          "referenceAllele": "C",
          "start": 2106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012338",
      "geneNCBI_id": 7225,
      "geneSymbol": "TRPC6",
      "hgvs": [
        "ENST00000348423.8:c.2107C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343672.4:p.Leu703="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262473"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2290,
          "referenceAllele": "C",
          "start": 2289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012338",
      "geneNCBI_id": 7225,
      "geneSymbol": "TRPC6",
      "hgvs": [
        "ENST00000360497.4:c.2290C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353687.4:p.Leu764="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265153"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2224,
          "referenceAllele": "C",
          "start": 2223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012338",
      "geneNCBI_id": 7225,
      "geneSymbol": "TRPC6",
      "hgvs": [
        "ENST00000532133.5:c.2221C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435574.1:p.Leu741="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS357113"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3078264021",
      "coordinates": [
        {
          "allele": "C",
          "end": 2880,
          "referenceAllele": "C",
          "start": 2879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012338",
      "geneNCBI_id": 7225,
      "geneSymbol": "TRPC6",
      "hgvs": [
        "NM_004621.5:c.2455C="
      ],
      "proteinEffect": {
        "hgvs": "NP_004612.2:p.Leu819="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029776"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2924,
          "endIntronDirection": "+",
          "endIntronOffset": 1727,
          "referenceAllele": "C",
          "start": 2924,
          "startIntronDirection": "+",
          "startIntronOffset": 1726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012338",
      "geneNCBI_id": 7225,
      "geneSymbol": "TRPC6",
      "hgvs": [
        "XM_006718898.2:c.2409+1727C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006718961.1:n.2409+1727C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072838"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2369,
          "referenceAllele": "C",
          "start": 2368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012338",
      "geneNCBI_id": 7225,
      "geneSymbol": "TRPC6",
      "hgvs": [
        "XM_011542968.1:c.2290C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011541270.1:p.Leu764="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109896"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2970,
          "referenceAllele": "C",
          "start": 2969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012338",
      "geneNCBI_id": 7225,
      "geneSymbol": "TRPC6",
      "hgvs": [
        "XM_011542969.1:c.2455C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011541271.1:p.Leu819="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109897"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2489,
          "referenceAllele": "C",
          "start": 2488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012338",
      "geneNCBI_id": 7225,
      "geneSymbol": "TRPC6",
      "hgvs": [
        "XM_011542968.3:c.2290C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011541270.1:p.Leu764="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555013"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2463,
          "referenceAllele": "C",
          "start": 2462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012338",
      "geneNCBI_id": 7225,
      "geneSymbol": "TRPC6",
      "hgvs": [
        "XM_017018221.2:c.2107C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016873710.1:p.Leu703="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570216"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2811,
          "referenceAllele": "C",
          "start": 2810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012338",
      "geneNCBI_id": 7225,
      "geneSymbol": "TRPC6",
      "hgvs": [
        "XR_001747948.2:n.2811C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596024"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3078264021",
      "coordinates": [
        {
          "allele": "C",
          "end": 2959,
          "referenceAllele": "C",
          "start": 2958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012338",
      "geneNCBI_id": 7225,
      "geneSymbol": "TRPC6",
      "hgvs": [
        "NM_004621.6:c.2455C="
      ],
      "proteinEffect": {
        "hgvs": "NP_004612.2:p.Leu819="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666574",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000344327.8:c.2455C="
          },
          "RefSeq": {
            "hgvs": "NM_004621.6:c.2455C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000340913.3:p.Leu819="
          },
          "RefSeq": {
            "hgvs": "NP_004612.2:p.Leu819="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}