{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6021560",
  "communityStandardTitle": [
    "NM_005142.3(CBLIF):c.482T>G (p.Leu161Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=640160[alleleid]",
        "alleleId": 640160,
        "preferredName": "NM_005142.3(CBLIF):c.482T>G (p.Leu161Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/660502",
        "RCV": [
          "RCV000817705"
        ],
        "variationId": 660502
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-59609945-A-C",
        "id": "11-59609945-A-C",
        "variant": "11:59609945 A / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.59609945A>C?assembly=hg19",
        "id": "chr11:g.59609945A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.59842472A>C?assembly=hg38",
        "id": "chr11:g.59842472A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/200856492",
        "rs": 200856492
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-59609945-A-C?dataset=gnomad_r2_1",
        "id": "11-59609945-A-C",
        "variant": "11:59609945 A / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-59842472-A-C?dataset=gnomad_r3",
        "id": "11-59842472-A-C",
        "variant": "11:59842472 A / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-59842472-A-C?dataset=gnomad_r4",
        "id": "11-59842472-A-C",
        "variant": "11:59842472 A / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 59842472,
          "referenceAllele": "A",
          "start": 59842471
        }
      ],
      "hgvs": [
        "NC_000011.10:g.59842472A>C",
        "CM000673.2:g.59842472A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 59609945,
          "referenceAllele": "A",
          "start": 59609944
        }
      ],
      "hgvs": [
        "NC_000011.9:g.59609945A>C",
        "CM000673.1:g.59609945A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 59366521,
          "referenceAllele": "A",
          "start": 59366520
        }
      ],
      "hgvs": [
        "NC_000011.8:g.59366521A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8030,
          "referenceAllele": "T",
          "start": 8029
        }
      ],
      "hgvs": [
        "NG_008120.1:g.8030T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000865"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 528,
          "referenceAllele": "T",
          "start": 527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004268",
      "geneNCBI_id": 2694,
      "geneSymbol": "CBLIF",
      "hgvs": [
        "ENST00000257248.3:c.482T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000257248.2:p.Leu161Arg",
        "hgvsWellDefined": "ENSP00000257248.2:p.Leu161Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741823",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000257248.3:c.482T>G"
          },
          "RefSeq": {
            "hgvs": "NM_005142.3:c.482T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000257248.2:p.Leu161Arg"
          },
          "RefSeq": {
            "hgvs": "NP_005133.2:p.Leu161Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 530,
          "referenceAllele": "T",
          "start": 529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004268",
      "geneNCBI_id": 2694,
      "geneSymbol": "CBLIF",
      "hgvs": [
        "ENST00000257248.2:c.482T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000257248.2:p.Leu161Arg",
        "hgvsWellDefined": "ENSP00000257248.2:p.Leu161Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250253"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 642,
          "referenceAllele": "T",
          "start": 641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004268",
      "geneNCBI_id": 2694,
      "geneSymbol": "CBLIF",
      "hgvs": [
        "ENST00000525058.5:c.*449T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433196.1:n.*449T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS351134"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 972,
          "referenceAllele": "T",
          "start": 971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004268",
      "geneNCBI_id": 2694,
      "geneSymbol": "CBLIF",
      "hgvs": [
        "ENST00000532070.1:n.972T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS357057"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915989286",
      "coordinates": [
        {
          "allele": "G",
          "end": 530,
          "referenceAllele": "T",
          "start": 529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004268",
      "geneNCBI_id": 2694,
      "geneSymbol": "CBLIF",
      "hgvs": [
        "NM_005142.2:c.482T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_005133.2:p.Leu161Arg",
        "hgvsWellDefined": "NP_005133.2:p.Leu161Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030263"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 566,
          "referenceAllele": "T",
          "start": 565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004268",
      "geneNCBI_id": 2694,
      "geneSymbol": "CBLIF",
      "hgvs": [
        "XM_011544939.1:c.482T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543241.1:p.Leu161Arg",
        "hgvsWellDefined": "XP_011543241.1:p.Leu161Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111847"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 530,
          "referenceAllele": "T",
          "start": 529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004268",
      "geneNCBI_id": 2694,
      "geneSymbol": "CBLIF",
      "hgvs": [
        "XM_011544939.3:c.482T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543241.1:p.Leu161Arg",
        "hgvsWellDefined": "XP_011543241.1:p.Leu161Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555856"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915989286",
      "coordinates": [
        {
          "allele": "G",
          "end": 528,
          "referenceAllele": "T",
          "start": 527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004268",
      "geneNCBI_id": 2694,
      "geneSymbol": "CBLIF",
      "hgvs": [
        "NM_005142.3:c.482T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_005133.2:p.Leu161Arg",
        "hgvsWellDefined": "NP_005133.2:p.Leu161Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666835",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000257248.3:c.482T>G"
          },
          "RefSeq": {
            "hgvs": "NM_005142.3:c.482T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000257248.2:p.Leu161Arg"
          },
          "RefSeq": {
            "hgvs": "NP_005133.2:p.Leu161Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}