{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA11213108",
  "communityStandardTitle": [
    "NM_018226.6(RNPEPL1):c.1511-356G>C"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.241515596G>C?assembly=hg19",
        "id": "chr2:g.241515596G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.240576179G>C?assembly=hg38",
        "id": "chr2:g.240576179G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2953145",
        "rs": 2953145
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-241515596-G-C?dataset=gnomad_r2_1",
        "id": "2-241515596-G-C",
        "variant": "2:241515596 G / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-240576179-G-C?dataset=gnomad_r3",
        "id": "2-240576179-G-C",
        "variant": "2:240576179 G / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-240576179-G-C?dataset=gnomad_r4",
        "id": "2-240576179-G-C",
        "variant": "2:240576179 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 240576179,
          "referenceAllele": "G",
          "start": 240576178
        }
      ],
      "hgvs": [
        "NC_000002.12:g.240576179G>C",
        "CM000664.2:g.240576179G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 241515596,
          "referenceAllele": "G",
          "start": 241515595
        }
      ],
      "hgvs": [
        "NC_000002.11:g.241515596G>C",
        "CM000664.1:g.241515596G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 241164269,
          "referenceAllele": "G",
          "start": 241164268
        }
      ],
      "hgvs": [
        "NC_000002.10:g.241164269G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1613,
          "endIntronDirection": "-",
          "endIntronOffset": 355,
          "referenceAllele": "G",
          "start": 1613,
          "startIntronDirection": "-",
          "startIntronOffset": 356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010079",
      "geneNCBI_id": 57140,
      "geneSymbol": "RNPEPL1",
      "hgvs": [
        "ENST00000270357.10:c.1511-356G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000270357.4:n.1511-356G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743157",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000270357.10:c.1511-356G>C"
          },
          "RefSeq": {
            "hgvs": "NM_018226.6:c.1511-356G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000270357.4:n.1511-356G>C"
          },
          "RefSeq": {
            "hgvs": "NP_060696.4:n.1511-356G>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1410,
          "endIntronDirection": "-",
          "endIntronOffset": 355,
          "referenceAllele": "G",
          "start": 1410,
          "startIntronDirection": "-",
          "startIntronOffset": 356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010079",
      "geneNCBI_id": 57140,
      "geneSymbol": "RNPEPL1",
      "hgvs": [
        "ENST00000270357.8:c.818-356G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000270357.3:n.818-356G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252242"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 109,
          "endIntronDirection": "-",
          "endIntronOffset": 388,
          "referenceAllele": "G",
          "start": 109,
          "startIntronDirection": "-",
          "startIntronOffset": 389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010079",
      "geneNCBI_id": 57140,
      "geneSymbol": "RNPEPL1",
      "hgvs": [
        "ENST00000437406.1:c.110-389G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403319.1:n.110-389G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294447"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 345,
          "endIntronDirection": "-",
          "endIntronOffset": 355,
          "referenceAllele": "G",
          "start": 345,
          "startIntronDirection": "-",
          "startIntronOffset": 356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010079",
      "geneNCBI_id": 57140,
      "geneSymbol": "RNPEPL1",
      "hgvs": [
        "ENST00000451363.5:c.152-356G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414661.1:n.152-356G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS301143"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 346,
          "endIntronDirection": "-",
          "endIntronOffset": 355,
          "referenceAllele": "G",
          "start": 346,
          "startIntronDirection": "-",
          "startIntronOffset": 356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010079",
      "geneNCBI_id": 57140,
      "geneSymbol": "RNPEPL1",
      "hgvs": [
        "ENST00000464550.5:n.347-356G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS308354"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 313,
          "endIntronDirection": "-",
          "endIntronOffset": 355,
          "referenceAllele": "G",
          "start": 313,
          "startIntronDirection": "-",
          "startIntronOffset": 356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010079",
      "geneNCBI_id": 57140,
      "geneSymbol": "RNPEPL1",
      "hgvs": [
        "ENST00000471657.1:n.314-356G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS313800"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2089,
          "referenceAllele": "G",
          "start": 2088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010079",
      "geneNCBI_id": 57140,
      "geneSymbol": "RNPEPL1",
      "hgvs": [
        "ENST00000481757.5:n.2089G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS321606"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1623,
          "endIntronDirection": "-",
          "endIntronOffset": 355,
          "referenceAllele": "G",
          "start": 1623,
          "startIntronDirection": "-",
          "startIntronOffset": 356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010079",
      "geneNCBI_id": 57140,
      "geneSymbol": "RNPEPL1",
      "hgvs": [
        "ENST00000486058.5:n.1624-356G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324953"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 656,
          "endIntronDirection": "-",
          "endIntronOffset": 355,
          "referenceAllele": "G",
          "start": 656,
          "startIntronDirection": "-",
          "startIntronOffset": 356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010079",
      "geneNCBI_id": 57140,
      "geneSymbol": "RNPEPL1",
      "hgvs": [
        "ENST00000493398.5:n.657-356G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS330555"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1510,
          "endIntronDirection": "-",
          "endIntronOffset": 355,
          "referenceAllele": "G",
          "start": 1510,
          "startIntronDirection": "-",
          "startIntronOffset": 356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010079",
      "geneNCBI_id": 57140,
      "geneSymbol": "RNPEPL1",
      "hgvs": [
        "NM_018226.4:c.1511-356G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_060696.4:n.1511-356G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035561"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1556,
          "endIntronDirection": "-",
          "endIntronOffset": 388,
          "referenceAllele": "G",
          "start": 1556,
          "startIntronDirection": "-",
          "startIntronOffset": 389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010079",
      "geneNCBI_id": 57140,
      "geneSymbol": "RNPEPL1",
      "hgvs": [
        "XM_005247036.3:c.1511-389G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005247093.1:n.1511-389G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057893"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1613,
          "endIntronDirection": "-",
          "endIntronOffset": 355,
          "referenceAllele": "G",
          "start": 1613,
          "startIntronDirection": "-",
          "startIntronOffset": 356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010079",
      "geneNCBI_id": 57140,
      "geneSymbol": "RNPEPL1",
      "hgvs": [
        "NM_018226.5:c.1511-356G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_060696.4:n.1511-356G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525886"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1571,
          "endIntronDirection": "-",
          "endIntronOffset": 388,
          "referenceAllele": "G",
          "start": 1571,
          "startIntronDirection": "-",
          "startIntronOffset": 389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010079",
      "geneNCBI_id": 57140,
      "geneSymbol": "RNPEPL1",
      "hgvs": [
        "XM_005247036.4:c.1511-389G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005247093.1:n.1511-389G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532743"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1613,
          "endIntronDirection": "-",
          "endIntronOffset": 355,
          "referenceAllele": "G",
          "start": 1613,
          "startIntronDirection": "-",
          "startIntronOffset": 356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010079",
      "geneNCBI_id": 57140,
      "geneSymbol": "RNPEPL1",
      "hgvs": [
        "NM_018226.6:c.1511-356G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_060696.4:n.1511-356G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669569",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000270357.10:c.1511-356G>C"
          },
          "RefSeq": {
            "hgvs": "NM_018226.6:c.1511-356G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000270357.4:n.1511-356G>C"
          },
          "RefSeq": {
            "hgvs": "NP_060696.4:n.1511-356G>C"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}