{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1947581741",
  "communityStandardTitle": [
    "NM_019009.4(TOLLIP):c.417G= (p.Pro139=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/3750920",
        "rs": 3750920
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 1288726,
          "referenceAllele": "C",
          "start": 1288725
        }
      ],
      "hgvs": [
        "NC_000011.10:g.1288726C=",
        "CM000673.2:g.1288726C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 1309956,
          "referenceAllele": "C",
          "start": 1309955
        }
      ],
      "hgvs": [
        "NC_000011.9:g.1309956C=",
        "CM000673.1:g.1309956C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 1266532,
          "referenceAllele": "C",
          "start": 1266531
        }
      ],
      "hgvs": [
        "NC_000011.8:g.1266532C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 551,
          "referenceAllele": "G",
          "start": 550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016476",
      "geneNCBI_id": 54472,
      "geneSymbol": "TOLLIP",
      "hgvs": [
        "ENST00000317204.11:c.417G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000314733.5:p.Pro139="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746123",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000317204.11:c.417G="
          },
          "RefSeq": {
            "hgvs": "NM_019009.4:c.417G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000314733.5:p.Pro139="
          },
          "RefSeq": {
            "hgvs": "NP_061882.2:p.Pro139="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 489,
          "referenceAllele": "G",
          "start": 488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016476",
      "geneNCBI_id": 54472,
      "geneSymbol": "TOLLIP",
      "hgvs": [
        "ENST00000263646.11:c.333G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263646.6:p.Pro111="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251311"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 541,
          "referenceAllele": "G",
          "start": 540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016476",
      "geneNCBI_id": 54472,
      "geneSymbol": "TOLLIP",
      "hgvs": [
        "ENST00000317204.10:c.417G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000314733.5:p.Pro139="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257337"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 355,
          "referenceAllele": "G",
          "start": 354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016476",
      "geneNCBI_id": 54472,
      "geneSymbol": "TOLLIP",
      "hgvs": [
        "ENST00000525159.5:c.234G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432668.1:p.Pro78="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS351224"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 591,
          "referenceAllele": "G",
          "start": 590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016476",
      "geneNCBI_id": 54472,
      "geneSymbol": "TOLLIP",
      "hgvs": [
        "ENST00000527886.5:c.210G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434035.1:p.Pro70="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS353508"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 308,
          "endIntronDirection": "+",
          "endIntronOffset": 6919,
          "referenceAllele": "G",
          "start": 308,
          "startIntronDirection": "+",
          "startIntronOffset": 6918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016476",
      "geneNCBI_id": 54472,
      "geneSymbol": "TOLLIP",
      "hgvs": [
        "ENST00000527938.5:c.183+6919G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432778.1:n.183+6919G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS353552"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 579,
          "referenceAllele": "G",
          "start": 578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016476",
      "geneNCBI_id": 54472,
      "geneSymbol": "TOLLIP",
      "hgvs": [
        "ENST00000528719.1:n.579G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS354215"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 352,
          "referenceAllele": "G",
          "start": 351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016476",
      "geneNCBI_id": 54472,
      "geneSymbol": "TOLLIP",
      "hgvs": [
        "ENST00000530506.5:c.267G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436393.1:p.Pro89="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS355752"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 392,
          "referenceAllele": "G",
          "start": 391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016476",
      "geneNCBI_id": 54472,
      "geneSymbol": "TOLLIP",
      "hgvs": [
        "ENST00000530541.1:c.267G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434494.1:p.Pro89="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS355781"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3077691979",
      "coordinates": [
        {
          "allele": "G",
          "end": 581,
          "referenceAllele": "G",
          "start": 580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016476",
      "geneNCBI_id": 54472,
      "geneSymbol": "TOLLIP",
      "hgvs": [
        "NM_019009.3:c.417G="
      ],
      "proteinEffect": {
        "hgvs": "NP_061882.2:p.Pro139="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036015"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 544,
          "referenceAllele": "G",
          "start": 543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016476",
      "geneNCBI_id": 54472,
      "geneSymbol": "TOLLIP",
      "hgvs": [
        "XM_011520192.1:c.210G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011518494.1:p.Pro70="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087361"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 431,
          "referenceAllele": "G",
          "start": 430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016476",
      "geneNCBI_id": 54472,
      "geneSymbol": "TOLLIP",
      "hgvs": [
        "NM_001318512.1:c.267G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001305441.1:p.Pro89="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512926"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 591,
          "referenceAllele": "G",
          "start": 590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016476",
      "geneNCBI_id": 54472,
      "geneSymbol": "TOLLIP",
      "hgvs": [
        "NM_001318514.1:c.210G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001305443.1:p.Pro70="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512928"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 347,
          "endIntronDirection": "+",
          "endIntronOffset": 6919,
          "referenceAllele": "G",
          "start": 347,
          "startIntronDirection": "+",
          "startIntronOffset": 6918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016476",
      "geneNCBI_id": 54472,
      "geneSymbol": "TOLLIP",
      "hgvs": [
        "NM_001318515.1:c.183+6919G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001305444.1:n.183+6919G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512929"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 398,
          "referenceAllele": "G",
          "start": 397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016476",
      "geneNCBI_id": 54472,
      "geneSymbol": "TOLLIP",
      "hgvs": [
        "NM_001318516.1:c.234G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001305445.1:p.Pro78="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512930"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 488,
          "referenceAllele": "G",
          "start": 487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016476",
      "geneNCBI_id": 54472,
      "geneSymbol": "TOLLIP",
      "hgvs": [
        "XM_017017931.1:c.39G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016873420.1:p.Pro13="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570009"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1873,
          "referenceAllele": "G",
          "start": 1872
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016476",
      "geneNCBI_id": 54472,
      "geneSymbol": "TOLLIP",
      "hgvs": [
        "XR_001747910.2:n.1873G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS595996"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3077691979",
      "coordinates": [
        {
          "allele": "G",
          "end": 551,
          "referenceAllele": "G",
          "start": 550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016476",
      "geneNCBI_id": 54472,
      "geneSymbol": "TOLLIP",
      "hgvs": [
        "NM_019009.4:c.417G="
      ],
      "proteinEffect": {
        "hgvs": "NP_061882.2:p.Pro139="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669800",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000317204.11:c.417G="
          },
          "RefSeq": {
            "hgvs": "NM_019009.4:c.417G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000314733.5:p.Pro139="
          },
          "RefSeq": {
            "hgvs": "NP_061882.2:p.Pro139="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 401,
          "referenceAllele": "G",
          "start": 400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016476",
      "geneNCBI_id": 54472,
      "geneSymbol": "TOLLIP",
      "hgvs": [
        "NM_001318512.2:c.267G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001305441.1:p.Pro89="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684552"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 317,
          "endIntronDirection": "+",
          "endIntronOffset": 6919,
          "referenceAllele": "G",
          "start": 317,
          "startIntronDirection": "+",
          "startIntronOffset": 6918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016476",
      "geneNCBI_id": 54472,
      "geneSymbol": "TOLLIP",
      "hgvs": [
        "NM_001318515.2:c.183+6919G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001305444.1:n.183+6919G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684554"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 368,
          "referenceAllele": "G",
          "start": 367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016476",
      "geneNCBI_id": 54472,
      "geneSymbol": "TOLLIP",
      "hgvs": [
        "NM_001318516.2:c.234G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001305445.1:p.Pro78="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684555"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 591,
          "referenceAllele": "G",
          "start": 590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016476",
      "geneNCBI_id": 54472,
      "geneSymbol": "TOLLIP",
      "hgvs": [
        "NM_001318514.2:c.210G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001305443.1:p.Pro70="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717555"
    }
  ],
  "type": "nucleotide"
}