{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10622890",
  "communityStandardTitle": [
    "NM_022464.5(SIL1):c.1017G>C (p.Leu339=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=301359[alleleid]",
        "alleleId": 301359,
        "preferredName": "NM_022464.5(SIL1):c.1017G>C (p.Leu339=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/351076",
        "RCV": [
          "RCV000399048",
          "RCV001770278"
        ],
        "variationId": 351076
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.138286872C>G?assembly=hg19",
        "id": "chr5:g.138286872C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.138951183C>G?assembly=hg38",
        "id": "chr5:g.138951183C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/769587333",
        "rs": 769587333
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 138951183,
          "referenceAllele": "C",
          "start": 138951182
        }
      ],
      "hgvs": [
        "NC_000005.10:g.138951183C>G",
        "CM000667.2:g.138951183C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 138286872,
          "referenceAllele": "C",
          "start": 138286871
        }
      ],
      "hgvs": [
        "NC_000005.9:g.138286872C>G",
        "CM000667.1:g.138286872C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 138314771,
          "referenceAllele": "C",
          "start": 138314770
        }
      ],
      "hgvs": [
        "NC_000005.8:g.138314771C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 252194,
          "referenceAllele": "G",
          "start": 252193
        }
      ],
      "hgvs": [
        "NG_008112.1:g.252194G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000857"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 252194,
          "referenceAllele": "G",
          "start": 252193
        }
      ],
      "hgvs": [
        "NG_008112.2:g.252194G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673487"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1127,
          "referenceAllele": "G",
          "start": 1126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024624",
      "geneNCBI_id": 64374,
      "geneSymbol": "SIL1",
      "hgvs": [
        "ENST00000394817.7:c.1017G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378294.2:p.Leu339="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753314",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000394817.7:c.1017G>C"
          },
          "RefSeq": {
            "hgvs": "NM_022464.5:c.1017G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000378294.2:p.Leu339="
          },
          "RefSeq": {
            "hgvs": "NP_071909.1:p.Leu339="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1163,
          "referenceAllele": "G",
          "start": 1162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024624",
      "geneNCBI_id": 64374,
      "geneSymbol": "SIL1",
      "hgvs": [
        "ENST00000265195.9:c.1017G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265195.5:p.Leu339="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251695"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1157,
          "referenceAllele": "G",
          "start": 1156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024624",
      "geneNCBI_id": 64374,
      "geneSymbol": "SIL1",
      "hgvs": [
        "ENST00000394817.6:c.1017G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378294.2:p.Leu339="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276358"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1251,
          "referenceAllele": "G",
          "start": 1250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024624",
      "geneNCBI_id": 64374,
      "geneSymbol": "SIL1",
      "hgvs": [
        "ENST00000509534.5:c.1038G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426858.1:p.Leu346="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS340273"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 352,
          "referenceAllele": "G",
          "start": 351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024624",
      "geneNCBI_id": 64374,
      "geneSymbol": "SIL1",
      "hgvs": [
        "ENST00000515008.1:n.352G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS344352"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825381245",
      "coordinates": [
        {
          "allele": "C",
          "end": 1223,
          "referenceAllele": "G",
          "start": 1222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024624",
      "geneNCBI_id": 64374,
      "geneSymbol": "SIL1",
      "hgvs": [
        "NM_001037633.1:c.1017G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001032722.1:p.Leu339="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009286"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830001143",
      "coordinates": [
        {
          "allele": "C",
          "end": 1135,
          "referenceAllele": "G",
          "start": 1134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024624",
      "geneNCBI_id": 64374,
      "geneSymbol": "SIL1",
      "hgvs": [
        "NM_022464.4:c.1017G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_071909.1:p.Leu339="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037329"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1260,
          "referenceAllele": "G",
          "start": 1259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024624",
      "geneNCBI_id": 64374,
      "geneSymbol": "SIL1",
      "hgvs": [
        "XM_011543570.1:c.1047G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541872.1:p.Leu349="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110488"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1260,
          "referenceAllele": "G",
          "start": 1259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024624",
      "geneNCBI_id": 64374,
      "geneSymbol": "SIL1",
      "hgvs": [
        "XM_011543570.2:c.1047G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541872.1:p.Leu349="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555282"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1160,
          "referenceAllele": "G",
          "start": 1159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024624",
      "geneNCBI_id": 64374,
      "geneSymbol": "SIL1",
      "hgvs": [
        "XM_024446164.1:c.1017G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301932.1:p.Leu339="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579838"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830001143",
      "coordinates": [
        {
          "allele": "C",
          "end": 1127,
          "referenceAllele": "G",
          "start": 1126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024624",
      "geneNCBI_id": 64374,
      "geneSymbol": "SIL1",
      "hgvs": [
        "NM_022464.5:c.1017G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_071909.1:p.Leu339="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670446",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000394817.7:c.1017G>C"
          },
          "RefSeq": {
            "hgvs": "NM_022464.5:c.1017G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000378294.2:p.Leu339="
          },
          "RefSeq": {
            "hgvs": "NP_071909.1:p.Leu339="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825381245",
      "coordinates": [
        {
          "allele": "C",
          "end": 1215,
          "referenceAllele": "G",
          "start": 1214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024624",
      "geneNCBI_id": 64374,
      "geneSymbol": "SIL1",
      "hgvs": [
        "NM_001037633.2:c.1017G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001032722.1:p.Leu339="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675860"
    }
  ],
  "type": "nucleotide"
}