{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA382978386",
  "communityStandardTitle": [
    "NM_031433.4(MFRP):c.492C>G (p.Tyr164Ter)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.119216279G>C?assembly=hg19",
        "id": "chr11:g.119216279G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.119345569G>C?assembly=hg38",
        "id": "chr11:g.119345569G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/36015759",
        "rs": 36015759
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-119345569-G-C?dataset=gnomad_r4",
        "id": "11-119345569-G-C",
        "variant": "11:119345569 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 119345569,
          "referenceAllele": "G",
          "start": 119345568
        }
      ],
      "hgvs": [
        "NC_000011.10:g.119345569G>C",
        "CM000673.2:g.119345569G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 119216279,
          "referenceAllele": "G",
          "start": 119216278
        }
      ],
      "hgvs": [
        "NC_000011.9:g.119216279G>C",
        "CM000673.1:g.119216279G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 118721489,
          "referenceAllele": "G",
          "start": 118721488
        }
      ],
      "hgvs": [
        "NC_000011.8:g.118721489G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6105,
          "referenceAllele": "C",
          "start": 6104
        }
      ],
      "hgvs": [
        "NG_012235.1:g.6105C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002307"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 684,
          "referenceAllele": "C",
          "start": 683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018121",
      "geneNCBI_id": 83552,
      "geneSymbol": "MFRP",
      "hgvs": [
        "ENST00000619721.6:c.492C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481824.1:p.Tyr164Ter",
        "hgvsWellDefined": "ENSP00000481824.1:p.Tyr164_Pro579delinsProProAsnThrHisCysValTrpHisIleGlnValAlaThrAspHisAlaIleGlnLeuLysIleGluAlaLeuSerIleGluSerValAlaSerCysLeuPheAspArgLeuGluLeuSerProGluProGluGlyProLeuLeuArgValCysGlyArgValProProProThrLeuAsnThrAsnAlaSerHisLeuLeuValValPheValSerAspSerSerValGluGlyPheGlyPheHisAlaTrpTyrGlnAlaMetAlaProGlyArgGlySerCysAlaHisAspGluPheArgCysAspGlnLeuIleCysLeuLeuProAspSerValCysAspGlyPheAlaAsnCysAlaAspGlySerAspGluThrAsnCysSerAlaLysPheSerGlyCysGlyGlyAsnLeuThrGlyLeuGlnGlyThrPheSerThrProSerTyrLeuGlnGlnTyrProHisGlnLeuLeuCysThrTrpHisIleSerValProAlaGlyHisSerIleGluLeuGlnPheHisAsnPheSerLeuGluAlaGlnAspGluCysLysPheAspTyrValGluValTyrGluThrSerSerSerGlyAlaPheSerLeuLeuGlyArgPheCysGlyAlaGluProProProHisLeuValSerSerHisHisGluLeuAlaValLeuPheArgThrAspHisGlyIleSerSerGlyGlyPheSerAlaThrTyrLeuAlaPheAsnAlaThrGluAsnProCysGlyProSerGluLeuSerCysGlnAlaGlyGlyCysLysGlyValGlnTrpMetCysAspMetTrpArgAspCysThrAspGlySerAspAspAsnCysSerGlyProLeuPheProProProGluLeuAlaCysGluProValGlnValGluMetCysLeuGlyLeuSerTyrAsnThrThrAlaPheProAsnIleTrpValGlyMetIleThrGlnGluGluValValGluValLeuSerGlyTyrLysSerLeuThrSerLeuProCysTyrGlnHisPheArgArgLeuLeuCysGlyLeuLeuValProArgCysThrProLeuGlySerValLeuProProCysArgSerValCysGlnGluAlaGluHisGlnCysGlnSerGlyLeuAlaLeuLeuGlyThrProTrpProPheAsnCysAsnArgLeuProGluAlaAlaAspLeuGluAlaCysAlaGlnProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762241",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000619721.6:c.492C>G"
          },
          "RefSeq": {
            "hgvs": "NM_031433.4:c.492C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000481824.1:p.Tyr164Ter"
          },
          "RefSeq": {
            "hgvs": "NP_113621.1:p.Tyr164Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 644,
          "referenceAllele": "C",
          "start": 643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018121",
      "geneNCBI_id": 83552,
      "geneSymbol": "MFRP",
      "hgvs": [
        "ENST00000360167.4:c.492C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353291.4:p.Tyr164Ter",
        "hgvsWellDefined": "ENSP00000353291.4:p.Tyr164_Pro461delinsProProAsnThrHisCysValTrpHisIleGlnValAlaThrAspHisAlaIleGlnLeuLysIleGluAlaLeuSerIleGluSerValAlaSerCysLeuPheAspArgLeuGluLeuSerProGluProGluGlyProLeuLeuArgValCysGlyArgValProProProThrLeuAsnThrAsnAlaSerHisLeuLeuValValPheValSerAspSerSerValGluGlyPheGlyPheHisAlaTrpTyrGlnAlaMetAlaProGlyArgGlySerCysAlaHisAspGluPheArgCysAspGlnLeuIleCysLeuLeuProAspSerValCysAspGlyPheAlaAsnCysAlaAspGlySerAspGluThrAsnCysSerAlaLysPheSerGlySerValGluGlnSerHisProProThrSerSerProArgThrMetSerTrpLeuCysCysLeuGlyGlnIleMetAlaSerAlaValGluAlaSerGlnProProThrTrpProSerMetProArgArgThrProValGlyProValSerSerProAlaArgGlnGluGlyValArgValCysSerGlyCysValThrCysGlyGluThrAlaProMetAlaAlaMetThrThrAlaAlaAlaProCysSerHisProGlnSerLeuThrSerLeuProCysTyrGlnHisPheArgArgLeuLeuCysGlyLeuLeuValProArgCysThrProLeuGlySerValLeuProProCysArgSerValCysGlnGluAlaGluHisGlnCysGlnSerGlyLeuAlaLeuLeuGlyThrProTrpProPheAsnCysAsnArgLeuProGluAlaAlaAspLeuGluAlaCysAlaGlnProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265038"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 455,
          "referenceAllele": "C",
          "start": 454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018121",
      "geneNCBI_id": 83552,
      "geneSymbol": "MFRP",
      "hgvs": [
        "ENST00000529147.2:n.455C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS354575"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 652,
          "referenceAllele": "C",
          "start": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018121",
      "geneNCBI_id": 83552,
      "geneSymbol": "MFRP",
      "hgvs": [
        "ENST00000619721.5:c.492C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481824.1:p.Tyr164Ter",
        "hgvsWellDefined": "ENSP00000481824.1:p.Tyr164_Pro579delinsProProAsnThrHisCysValTrpHisIleGlnValAlaThrAspHisAlaIleGlnLeuLysIleGluAlaLeuSerIleGluSerValAlaSerCysLeuPheAspArgLeuGluLeuSerProGluProGluGlyProLeuLeuArgValCysGlyArgValProProProThrLeuAsnThrAsnAlaSerHisLeuLeuValValPheValSerAspSerSerValGluGlyPheGlyPheHisAlaTrpTyrGlnAlaMetAlaProGlyArgGlySerCysAlaHisAspGluPheArgCysAspGlnLeuIleCysLeuLeuProAspSerValCysAspGlyPheAlaAsnCysAlaAspGlySerAspGluThrAsnCysSerAlaLysPheSerGlyCysGlyGlyAsnLeuThrGlyLeuGlnGlyThrPheSerThrProSerTyrLeuGlnGlnTyrProHisGlnLeuLeuCysThrTrpHisIleSerValProAlaGlyHisSerIleGluLeuGlnPheHisAsnPheSerLeuGluAlaGlnAspGluCysLysPheAspTyrValGluValTyrGluThrSerSerSerGlyAlaPheSerLeuLeuGlyArgPheCysGlyAlaGluProProProHisLeuValSerSerHisHisGluLeuAlaValLeuPheArgThrAspHisGlyIleSerSerGlyGlyPheSerAlaThrTyrLeuAlaPheAsnAlaThrGluAsnProCysGlyProSerGluLeuSerCysGlnAlaGlyGlyCysLysGlyValGlnTrpMetCysAspMetTrpArgAspCysThrAspGlySerAspAspAsnCysSerGlyProLeuPheProProProGluLeuAlaCysGluProValGlnValGluMetCysLeuGlyLeuSerTyrAsnThrThrAlaPheProAsnIleTrpValGlyMetIleThrGlnGluGluValValGluValLeuSerGlyTyrLysSerLeuThrSerLeuProCysTyrGlnHisPheArgArgLeuLeuCysGlyLeuLeuValProArgCysThrProLeuGlySerValLeuProProCysArgSerValCysGlnGluAlaGluHisGlnCysGlnSerGlyLeuAlaLeuLeuGlyThrProTrpProPheAsnCysAsnArgLeuProGluAlaAlaAspLeuGluAlaCysAlaGlnProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404491"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 493,
          "referenceAllele": "C",
          "start": 492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018121",
      "geneNCBI_id": 83552,
      "geneSymbol": "MFRP",
      "hgvs": [
        "ENST00000634542.1:c.*83C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000488979.1:n.*83C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407861"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 652,
          "referenceAllele": "C",
          "start": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014344",
      "geneNCBI_id": 114902,
      "geneSymbol": "C1QTNF5",
      "hgvs": [
        "NM_015645.4:c.-2145C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_056460.1:n.-2145C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034160"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3077700218",
      "coordinates": [
        {
          "allele": "G",
          "end": 652,
          "referenceAllele": "C",
          "start": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018121",
      "geneNCBI_id": 83552,
      "geneSymbol": "MFRP",
      "hgvs": [
        "NM_031433.3:c.492C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_113621.1:p.Tyr164Ter",
        "hgvsWellDefined": "NP_113621.1:p.Tyr164_Pro579delinsProProAsnThrHisCysValTrpHisIleGlnValAlaThrAspHisAlaIleGlnLeuLysIleGluAlaLeuSerIleGluSerValAlaSerCysLeuPheAspArgLeuGluLeuSerProGluProGluGlyProLeuLeuArgValCysGlyArgValProProProThrLeuAsnThrAsnAlaSerHisLeuLeuValValPheValSerAspSerSerValGluGlyPheGlyPheHisAlaTrpTyrGlnAlaMetAlaProGlyArgGlySerCysAlaHisAspGluPheArgCysAspGlnLeuIleCysLeuLeuProAspSerValCysAspGlyPheAlaAsnCysAlaAspGlySerAspGluThrAsnCysSerAlaLysPheSerGlyCysGlyGlyAsnLeuThrGlyLeuGlnGlyThrPheSerThrProSerTyrLeuGlnGlnTyrProHisGlnLeuLeuCysThrTrpHisIleSerValProAlaGlyHisSerIleGluLeuGlnPheHisAsnPheSerLeuGluAlaGlnAspGluCysLysPheAspTyrValGluValTyrGluThrSerSerSerGlyAlaPheSerLeuLeuGlyArgPheCysGlyAlaGluProProProHisLeuValSerSerHisHisGluLeuAlaValLeuPheArgThrAspHisGlyIleSerSerGlyGlyPheSerAlaThrTyrLeuAlaPheAsnAlaThrGluAsnProCysGlyProSerGluLeuSerCysGlnAlaGlyGlyCysLysGlyValGlnTrpMetCysAspMetTrpArgAspCysThrAspGlySerAspAspAsnCysSerGlyProLeuPheProProProGluLeuAlaCysGluProValGlnValGluMetCysLeuGlyLeuSerTyrAsnThrThrAlaPheProAsnIleTrpValGlyMetIleThrGlnGluGluValValGluValLeuSerGlyTyrLysSerLeuThrSerLeuProCysTyrGlnHisPheArgArgLeuLeuCysGlyLeuLeuValProArgCysThrProLeuGlySerValLeuProProCysArgSerValCysGlnGluAlaGluHisGlnCysGlnSerGlyLeuAlaLeuLeuGlyThrProTrpProPheAsnCysAsnArgLeuProGluAlaAlaAspLeuGluAlaCysAlaGlnProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038632"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3077700218",
      "coordinates": [
        {
          "allele": "G",
          "end": 684,
          "referenceAllele": "C",
          "start": 683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018121",
      "geneNCBI_id": 83552,
      "geneSymbol": "MFRP",
      "hgvs": [
        "NM_031433.4:c.492C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_113621.1:p.Tyr164Ter",
        "hgvsWellDefined": "NP_113621.1:p.Tyr164_Pro579delinsProProAsnThrHisCysValTrpHisIleGlnValAlaThrAspHisAlaIleGlnLeuLysIleGluAlaLeuSerIleGluSerValAlaSerCysLeuPheAspArgLeuGluLeuSerProGluProGluGlyProLeuLeuArgValCysGlyArgValProProProThrLeuAsnThrAsnAlaSerHisLeuLeuValValPheValSerAspSerSerValGluGlyPheGlyPheHisAlaTrpTyrGlnAlaMetAlaProGlyArgGlySerCysAlaHisAspGluPheArgCysAspGlnLeuIleCysLeuLeuProAspSerValCysAspGlyPheAlaAsnCysAlaAspGlySerAspGluThrAsnCysSerAlaLysPheSerGlyCysGlyGlyAsnLeuThrGlyLeuGlnGlyThrPheSerThrProSerTyrLeuGlnGlnTyrProHisGlnLeuLeuCysThrTrpHisIleSerValProAlaGlyHisSerIleGluLeuGlnPheHisAsnPheSerLeuGluAlaGlnAspGluCysLysPheAspTyrValGluValTyrGluThrSerSerSerGlyAlaPheSerLeuLeuGlyArgPheCysGlyAlaGluProProProHisLeuValSerSerHisHisGluLeuAlaValLeuPheArgThrAspHisGlyIleSerSerGlyGlyPheSerAlaThrTyrLeuAlaPheAsnAlaThrGluAsnProCysGlyProSerGluLeuSerCysGlnAlaGlyGlyCysLysGlyValGlnTrpMetCysAspMetTrpArgAspCysThrAspGlySerAspAspAsnCysSerGlyProLeuPheProProProGluLeuAlaCysGluProValGlnValGluMetCysLeuGlyLeuSerTyrAsnThrThrAlaPheProAsnIleTrpValGlyMetIleThrGlnGluGluValValGluValLeuSerGlyTyrLysSerLeuThrSerLeuProCysTyrGlnHisPheArgArgLeuLeuCysGlyLeuLeuValProArgCysThrProLeuGlySerValLeuProProCysArgSerValCysGlnGluAlaGluHisGlnCysGlnSerGlyLeuAlaLeuLeuGlyThrProTrpProPheAsnCysAsnArgLeuProGluAlaAlaAspLeuGluAlaCysAlaGlnProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671109",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000619721.6:c.492C>G"
          },
          "RefSeq": {
            "hgvs": "NM_031433.4:c.492C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000481824.1:p.Tyr164Ter"
          },
          "RefSeq": {
            "hgvs": "NP_113621.1:p.Tyr164Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 684,
          "referenceAllele": "C",
          "start": 683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014344",
      "geneNCBI_id": 114902,
      "geneSymbol": "C1QTNF5",
      "hgvs": [
        "NM_015645.5:c.-2145C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_056460.1:n.-2145C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697587"
    }
  ],
  "type": "nucleotide"
}