{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8255597",
  "communityStandardTitle": [
    "NM_002386.4(MC1R):c.456C>A (p.Tyr152Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=2923846",
        "active": true,
        "id": "COSM2923846"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=260144[alleleid]",
        "alleleId": 260144,
        "preferredName": "NM_002386.4(MC1R):c.456C>A (p.Tyr152Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/265230",
        "RCV": [
          "RCV000254860",
          "RCV000470714"
        ],
        "variationId": 265230
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/16-89986122-C-A",
        "id": "16-89986122-C-A",
        "variant": "16:89986122 C / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.89986122C>A?assembly=hg19",
        "id": "chr16:g.89986122C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.89919714C>A?assembly=hg38",
        "id": "chr16:g.89919714C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/201326893",
        "rs": 201326893
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-89986122-C-A?dataset=gnomad_r2_1",
        "id": "16-89986122-C-A",
        "variant": "16:89986122 C / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-89919714-C-A?dataset=gnomad_r3",
        "id": "16-89919714-C-A",
        "variant": "16:89919714 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-89919714-C-A?dataset=gnomad_r4",
        "id": "16-89919714-C-A",
        "variant": "16:89919714 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 89919714,
          "referenceAllele": "C",
          "start": 89919713
        }
      ],
      "hgvs": [
        "NC_000016.10:g.89919714C>A",
        "CM000678.2:g.89919714C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 89986122,
          "referenceAllele": "C",
          "start": 89986121
        }
      ],
      "hgvs": [
        "NC_000016.9:g.89986122C>A",
        "CM000678.1:g.89986122C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 88513623,
          "referenceAllele": "C",
          "start": 88513622
        }
      ],
      "hgvs": [
        "NC_000016.8:g.88513623C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6836,
          "referenceAllele": "C",
          "start": 6835
        }
      ],
      "hgvs": [
        "NG_012026.1:g.6836C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002114"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2706,
          "referenceAllele": "C",
          "start": 2705
        }
      ],
      "hgvs": [
        "NG_027810.1:g.2706C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003975"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 853,
          "referenceAllele": "C",
          "start": 852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006929",
      "geneNCBI_id": 4157,
      "geneSymbol": "MC1R",
      "hgvs": [
        "ENST00000555147.2:c.456C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451605.1:p.Tyr152Ter",
        "hgvsWellDefined": "ENSP00000451605.1:p.Tyr152_Trp317delinsHisSerIleValThrLeuProArgAlaArgArgAlaValAlaAlaIleTrpValAlaSerValValPheSerThrLeuPheIleAlaTyrTyrAspHisValAlaValLeuLeuCysLeuValValPhePheLeuAlaMetLeuValLeuMetAlaValLeuTyrValHisMetLeuAlaArgAlaCysGlnHisAlaGlnGlyIleAlaArgLeuHisLysArgGlnArgProValHisGlnGlyPheGlyLeuLysGlyAlaValThrLeuThrIleLeuLeuGlyIlePhePheLeuCysTrpGlyProPhePheLeuHisLeuThrLeuIleValLeuCysProGluHisProThrCysGlyCysIlePheLysAsnPheAsnLeuPheLeuAlaLeuIleIleCysAsnAlaIleIleAspProLeuIleTyrAlaPheHisSerGlnGluLeuArgArgThrLeuLysGluValLeuThrCysSerTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760119",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000555147.2:c.456C>A"
          },
          "RefSeq": {
            "hgvs": "NM_002386.4:c.456C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000451605.1:p.Tyr152Ter"
          },
          "RefSeq": {
            "hgvs": "NP_002377.4:p.Tyr152Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1330,
          "referenceAllele": "C",
          "start": 1329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006929",
      "geneNCBI_id": 4157,
      "geneSymbol": "MC1R",
      "hgvs": [
        "ENST00000639847.1:c.456C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492011.1:p.Tyr152Ter",
        "hgvsWellDefined": "ENSP00000492011.1:p.Tyr152_Trp317delinsHisSerIleValThrLeuProArgAlaArgArgAlaValAlaAlaIleTrpValAlaSerValValPheSerThrLeuPheIleAlaTyrTyrAspHisValAlaValLeuLeuCysLeuValValPhePheLeuAlaMetLeuValLeuMetAlaValLeuTyrValHisMetLeuAlaArgAlaCysGlnHisAlaGlnGlyIleAlaArgLeuHisLysArgGlnArgProValHisGlnGlyPheGlyLeuLysGlyAlaValThrLeuThrIleLeuLeuGlyIlePhePheLeuCysTrpGlyProPhePheLeuHisLeuThrLeuIleValLeuCysProGluHisProThrCysGlyCysIlePheLysAsnPheAsnLeuPheLeuAlaLeuIleIleCysAsnAlaIleIleAspProLeuIleTyrAlaPheHisSerGlnGluLeuArgArgThrLeuLysGluValLeuThrCysSerTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765206"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1836,
          "referenceAllele": "C",
          "start": 1835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006929",
      "geneNCBI_id": 4157,
      "geneSymbol": "MC1R",
      "hgvs": [
        "ENST00000555147.1:c.456C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451605.1:p.Tyr152Ter",
        "hgvsWellDefined": "ENSP00000451605.1:p.Tyr152_Trp317delinsHisSerIleValThrLeuProArgAlaArgArgAlaValAlaAlaIleTrpValAlaSerValValPheSerThrLeuPheIleAlaTyrTyrAspHisValAlaValLeuLeuCysLeuValValPhePheLeuAlaMetLeuValLeuMetAlaValLeuTyrValHisMetLeuAlaArgAlaCysGlnHisAlaGlnGlyIleAlaArgLeuHisLysArgGlnArgProValHisGlnGlyPheGlyLeuLysGlyAlaValThrLeuThrIleLeuLeuGlyIlePhePheLeuCysTrpGlyProPhePheLeuHisLeuThrLeuIleValLeuCysProGluHisProThrCysGlyCysIlePheLysAsnPheAsnLeuPheLeuAlaLeuIleIleCysAsnAlaIleIleAspProLeuIleTyrAlaPheHisSerGlnGluLeuArgArgThrLeuLysGluValLeuThrCysSerTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS371203"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2759,
          "referenceAllele": "C",
          "start": 2758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006929",
      "geneNCBI_id": 4157,
      "geneSymbol": "MC1R",
      "hgvs": [
        "ENST00000555427.1:c.456C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451760.1:p.Tyr152Ter",
        "hgvsWellDefined": "ENSP00000451760.1:p.Tyr152_Pro382delinsHisSerIleValThrLeuProArgAlaArgArgAlaValAlaAlaIleTrpValAlaSerValValPheSerThrLeuPheIleAlaTyrTyrAspHisValAlaValLeuLeuCysLeuValValPhePheLeuAlaMetLeuValLeuMetAlaValLeuTyrValHisMetLeuAlaArgAlaCysGlnHisAlaGlnGlyIleAlaArgLeuHisLysArgGlnArgProValHisGlnGlyPheGlyLeuLysGlyAlaValThrLeuThrIleLeuLeuGlyIlePhePheLeuCysTrpGlyProPhePheLeuHisLeuThrLeuIleValLeuCysProGluHisProThrCysGlyCysIlePheLysAsnPheAsnLeuPheLeuAlaLeuIleIleCysAsnAlaIleIleAspProLeuIleTyrAlaPheHisSerGlnGluLeuArgArgThrLeuLysGluValLeuThrCysSerCysSerGlnAspArgAlaLeuValSerTrpAspValLysSerLeuGlyGlySerValCysGlnGluLeuLeuProGlnGlnProGlnGluLysGlyLeuCysAspGlnLysAlaSerSerThrAlaLeuGlnArgLeuLeuGlnLysGluValLysSerLeuProGlnAlaLysGlyProGlyLeuGlnGluProProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS371426"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 550,
          "referenceAllele": "C",
          "start": 549
        }
      ],
      "hgvs": [
        "ENST00000556922.1:c.456C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451560.1:p.Tyr152Ter",
        "hgvsWellDefined": "ENSP00000451560.1:p.Tyr152_Lys797delinsHisSerIleValThrLeuProArgAlaArgArgAlaValAlaAlaIleTrpValAlaSerValValPheSerThrLeuPheIleAlaTyrTyrAspHisValAlaValLeuLeuCysLeuValValPhePheLeuAlaMetLeuValLeuMetAlaValLeuTyrValHisMetLeuAlaArgAlaCysGlnHisAlaGlnGlyIleAlaArgLeuHisLysArgGlnArgProValHisGlnGlyPheGlyLeuLysGlyAlaValThrLeuThrIleLeuLeuGlyIlePhePheLeuCysTrpGlyProPhePheLeuHisLeuThrLeuIleValLeuCysProGluHisProThrCysGlyCysIlePheLysAsnPheAsnLeuPheLeuAlaLeuIleIleCysAsnAlaIleIleAspProLeuIleTyrAlaPheHisSerGlnGluLeuArgArgThrLeuLysGluValLeuThrCysSerCysSerGlnAspArgAlaLeuValSerTrpAspValLysSerLeuGlyGlySerValCysGlnGluLeuLeuProGlnGlnProGlnGluLysGlyLeuCysAspGlnLysAlaSerSerThrAlaLeuGlnArgLeuLeuGlnLysGluPheTrpGluValIleSerAspGluHisGlyIleAspProSerGlyAsnTyrValGlyAspSerAspLeuGlnLeuGluArgIleSerValTyrTyrAsnGluAlaSerSerHisLysTyrValProArgAlaIleLeuValAspLeuGluProGlyThrMetAspSerValArgSerGlyAlaPheGlyHisLeuPheArgProAspAsnPheIlePheGlyGlnSerGlyAlaGlyAsnAsnTrpAlaLysGlyHisTyrThrGluGlyAlaGluLeuValAspSerValLeuAspValValArgLysGluCysGluAsnCysAspCysLeuGlnGlyPheGlnLeuThrHisSerLeuGlyGlyGlyThrGlySerGlyMetGlyThrLeuLeuIleSerLysValArgGluGluTyrProAspArgIleMetAsnThrPheSerValValProSerProLysValSerAspThrValValGluProTyrAsnAlaThrLeuSerIleHisGlnLeuValGluAsnThrAspGluThrTyrCysIleAspAsnGluAlaLeuTyrAspIleCysPheArgThrLeuLysLeuAlaThrProThrTyrGlyAspLeuAsnHisLeuValSerAlaThrMetSerGlyValThrThrSerLeuArgPheProGlyGlnLeuAsnAlaAspLeuArgLysLeuAlaValAsnMetValProPheProArgLeuHisPhePheMetProGlyPheAlaProLeuThrAlaArgGlySerGlnGlnTyrArgAlaLeuThrValProGluLeuThrGlnGlnMetPheAspAlaLysAsnMetMetAlaAlaCysAspProArgHisGlyArgTyrLeuThrValAlaThrValPheArgGlyArgMetSerMetLysGluValAspGluGlnMetLeuAlaIleGlnSerLysAsnSerSerTyrPheValGluTrpIleProAsnAsnValLysValAlaValCysAspIleProProArgGlyLeuLysMetSerSerThrPheIleGlyAsnSerThrAlaIleGlnGluLeuPheLysArgIleSerGluGlnPheThrAlaMetPheArgArgLysAlaPheLeuHisTrpTyrThrGlyGluGlyMetAspGluMetGluPheThrGluAlaGluSerAsnMetAsnAspLeuValSerGluTyrGlnGlnTyrGlnAspAlaThrAlaGluGluGluGlyGluMetTyrGluAspAspGluGluGluSerGluAlaGlnGlyProLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS372602"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645393044",
      "coordinates": [
        {
          "allele": "A",
          "end": 1836,
          "referenceAllele": "C",
          "start": 1835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006929",
      "geneNCBI_id": 4157,
      "geneSymbol": "MC1R",
      "hgvs": [
        "NM_002386.3:c.456C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002377.4:p.Tyr152Ter",
        "hgvsWellDefined": "NP_002377.4:p.Tyr152_Trp317delinsHisSerIleValThrLeuProArgAlaArgArgAlaValAlaAlaIleTrpValAlaSerValValPheSerThrLeuPheIleAlaTyrTyrAspHisValAlaValLeuLeuCysLeuValValPhePheLeuAlaMetLeuValLeuMetAlaValLeuTyrValHisMetLeuAlaArgAlaCysGlnHisAlaGlnGlyIleAlaArgLeuHisLysArgGlnArgProValHisGlnGlyPheGlyLeuLysGlyAlaValThrLeuThrIleLeuLeuGlyIlePhePheLeuCysTrpGlyProPhePheLeuHisLeuThrLeuIleValLeuCysProGluHisProThrCysGlyCysIlePheLysAsnPheAsnLeuPheLeuAlaLeuIleIleCysAsnAlaIleIleAspProLeuIleTyrAlaPheHisSerGlnGluLeuArgArgThrLeuLysGluValLeuThrCysSerTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027692"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645393044",
      "coordinates": [
        {
          "allele": "A",
          "end": 853,
          "referenceAllele": "C",
          "start": 852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006929",
      "geneNCBI_id": 4157,
      "geneSymbol": "MC1R",
      "hgvs": [
        "NM_002386.4:c.456C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002377.4:p.Tyr152Ter",
        "hgvsWellDefined": "NP_002377.4:p.Tyr152_Trp317delinsHisSerIleValThrLeuProArgAlaArgArgAlaValAlaAlaIleTrpValAlaSerValValPheSerThrLeuPheIleAlaTyrTyrAspHisValAlaValLeuLeuCysLeuValValPhePheLeuAlaMetLeuValLeuMetAlaValLeuTyrValHisMetLeuAlaArgAlaCysGlnHisAlaGlnGlyIleAlaArgLeuHisLysArgGlnArgProValHisGlnGlyPheGlyLeuLysGlyAlaValThrLeuThrIleLeuLeuGlyIlePhePheLeuCysTrpGlyProPhePheLeuHisLeuThrLeuIleValLeuCysProGluHisProThrCysGlyCysIlePheLysAsnPheAsnLeuPheLeuAlaLeuIleIleCysAsnAlaIleIleAspProLeuIleTyrAlaPheHisSerGlnGluLeuArgArgThrLeuLysGluValLeuThrCysSerTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695529",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000555147.2:c.456C>A"
          },
          "RefSeq": {
            "hgvs": "NM_002386.4:c.456C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000451605.1:p.Tyr152Ter"
          },
          "RefSeq": {
            "hgvs": "NP_002377.4:p.Tyr152Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}