{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA370992582",
  "communityStandardTitle": [
    "NM_006269.2(RP1):c.2035C>A (p.Gln679Lys)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.55538477C>A?assembly=hg19",
        "id": "chr8:g.55538477C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.54625917C>A?assembly=hg38",
        "id": "chr8:g.54625917C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104894083",
        "rs": 104894083
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 54625917,
          "referenceAllele": "C",
          "start": 54625916
        }
      ],
      "hgvs": [
        "NC_000008.11:g.54625917C>A",
        "CM000670.2:g.54625917C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 55538477,
          "referenceAllele": "C",
          "start": 55538476
        }
      ],
      "hgvs": [
        "NC_000008.10:g.55538477C>A",
        "CM000670.1:g.55538477C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 55701030,
          "referenceAllele": "C",
          "start": 55701029
        }
      ],
      "hgvs": [
        "NC_000008.9:g.55701030C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14851,
          "referenceAllele": "C",
          "start": 14850
        }
      ],
      "hgvs": [
        "NG_009840.1:g.14851C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001672"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14851,
          "referenceAllele": "C",
          "start": 14850
        }
      ],
      "hgvs": [
        "NG_009840.2:g.14851C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673534"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2154,
          "referenceAllele": "C",
          "start": 2153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010263",
      "geneNCBI_id": 6101,
      "geneSymbol": "RP1",
      "hgvs": [
        "ENST00000220676.2:c.2035C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000220676.1:p.Gln679Lys",
        "hgvsWellDefined": "ENSP00000220676.1:p.Gln679Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740469",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000220676.2:c.2035C>A"
          },
          "RefSeq": {
            "hgvs": "NM_006269.2:c.2035C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000220676.1:p.Gln679Lys"
          },
          "RefSeq": {
            "hgvs": "NP_006260.1:p.Gln679Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 951,
          "endIntronDirection": "+",
          "endIntronOffset": 3629,
          "referenceAllele": "C",
          "start": 951,
          "startIntronDirection": "+",
          "startIntronOffset": 3628
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010263",
      "geneNCBI_id": 6101,
      "geneSymbol": "RP1",
      "hgvs": [
        "ENST00000636932.1:c.787+3629C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489857.1:n.787+3629C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763485"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 935,
          "endIntronDirection": "+",
          "endIntronOffset": 3629,
          "referenceAllele": "C",
          "start": 935,
          "startIntronDirection": "+",
          "startIntronOffset": 3628
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010263",
      "geneNCBI_id": 6101,
      "geneSymbol": "RP1",
      "hgvs": [
        "ENST00000637698.1:c.787+3629C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490104.1:n.787+3629C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764046"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2183,
          "referenceAllele": "C",
          "start": 2182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010263",
      "geneNCBI_id": 6101,
      "geneSymbol": "RP1",
      "hgvs": [
        "ENST00000220676.1:c.2035C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000220676.1:p.Gln679Lys",
        "hgvsWellDefined": "ENSP00000220676.1:p.Gln679Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248236"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3074697310",
      "coordinates": [
        {
          "allele": "A",
          "end": 2183,
          "referenceAllele": "C",
          "start": 2182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010263",
      "geneNCBI_id": 6101,
      "geneSymbol": "RP1",
      "hgvs": [
        "NM_006269.1:c.2035C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_006260.1:p.Gln679Lys",
        "hgvsWellDefined": "NP_006260.1:p.Gln679Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031291"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3346,
          "referenceAllele": "C",
          "start": 3345
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010263",
      "geneNCBI_id": 6101,
      "geneSymbol": "RP1",
      "hgvs": [
        "XM_017013721.1:c.2056C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869210.1:p.Gln686Lys",
        "hgvsWellDefined": "XP_016869210.1:p.Gln686Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566911"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2199,
          "referenceAllele": "C",
          "start": 2198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010263",
      "geneNCBI_id": 6101,
      "geneSymbol": "RP1",
      "hgvs": [
        "XM_017013722.1:c.2035C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869211.1:p.Gln679Lys",
        "hgvsWellDefined": "XP_016869211.1:p.Gln679Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566912"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 935,
          "endIntronDirection": "+",
          "endIntronOffset": 3629,
          "referenceAllele": "C",
          "start": 935,
          "startIntronDirection": "+",
          "startIntronOffset": 3628
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010263",
      "geneNCBI_id": 6101,
      "geneSymbol": "RP1",
      "hgvs": [
        "NM_001375654.1:c.787+3629C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362583.1:n.787+3629C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693742"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3074697310",
      "coordinates": [
        {
          "allele": "A",
          "end": 2154,
          "referenceAllele": "C",
          "start": 2153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010263",
      "geneNCBI_id": 6101,
      "geneSymbol": "RP1",
      "hgvs": [
        "NM_006269.2:c.2035C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_006260.1:p.Gln679Lys",
        "hgvsWellDefined": "NP_006260.1:p.Gln679Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696656",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000220676.2:c.2035C>A"
          },
          "RefSeq": {
            "hgvs": "NM_006269.2:c.2035C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000220676.1:p.Gln679Lys"
          },
          "RefSeq": {
            "hgvs": "NP_006260.1:p.Gln679Lys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}