{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA144315",
  "communityStandardTitle": [
    "NM_002299.4(LCT):c.4419C>G (p.Tyr1473Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=71028[alleleid]",
        "alleleId": 71028,
        "preferredName": "NM_002299.4(LCT):c.4419C>G (p.Tyr1473Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/56389",
        "RCV": [
          "RCV000049802"
        ],
        "variationId": 56389
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.136562382G>C?assembly=hg19",
        "id": "chr2:g.136562382G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.135804812G>C?assembly=hg38",
        "id": "chr2:g.135804812G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/386833834",
        "rs": 386833834
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 135804812,
          "referenceAllele": "G",
          "start": 135804811
        }
      ],
      "hgvs": [
        "NC_000002.12:g.135804812G>C",
        "CM000664.2:g.135804812G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 136562382,
          "referenceAllele": "G",
          "start": 136562381
        }
      ],
      "hgvs": [
        "NC_000002.11:g.136562382G>C",
        "CM000664.1:g.136562382G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 136278852,
          "referenceAllele": "G",
          "start": 136278851
        }
      ],
      "hgvs": [
        "NC_000002.10:g.136278852G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 55358,
          "referenceAllele": "C",
          "start": 55357
        }
      ],
      "hgvs": [
        "NG_008104.2:g.55358C>G",
        "LRG_338:g.55358C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000849"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4434,
          "referenceAllele": "C",
          "start": 4433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006530",
      "geneNCBI_id": 3938,
      "geneSymbol": "LCT",
      "hgvs": [
        "ENST00000264162.7:c.4419C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264162.2:p.Tyr1473Ter",
        "hgvsWellDefined": "ENSP00000264162.2:p.Tyr1473_Phe1927delinsValArgLeuIleAspThrLeuLeuAlaAlaSerIleGlnProGlnValThrIleTyrHisTrpAspLeuProGlnThrLeuGlnAspValGlyGlyTrpGluAsnGluThrIleValGlnArgPheLysGluTyrAlaAspValLeuPheGlnArgLeuGlyAspLysValLysPheTrpIleThrLeuAsnGluProPheValIleAlaTyrGlnGlyTyrGlyTyrGlyThrAlaAlaProGlyValSerAsnArgProGlyThrAlaProTyrIleValGlyHisAsnLeuIleLysAlaHisAlaGluAlaTrpHisLeuTyrAsnAspValTyrArgAlaSerGlnGlyGlyValIleSerIleThrIleSerSerAspTrpAlaGluProArgAspProSerAsnGlnGluAspValGluAlaAlaArgArgTyrValGlnPheMetGlyGlyTrpPheAlaHisProIlePheLysAsnGlyAspTyrAsnGluValMetLysThrArgIleArgAspArgSerLeuAlaAlaGlyLeuAsnLysSerArgLeuProGluPheThrGluSerGluLysArgArgIleAsnGlyThrTyrAspPhePheGlyPheAsnHisTyrThrThrValLeuAlaTyrAsnLeuAsnTyrAlaThrAlaIleSerSerPheAspAlaAspArgGlyValAlaSerIleAlaAspArgSerTrpProAspSerGlySerPheTrpLeuLysMetThrProPheGlyPheArgArgIleLeuAsnTrpLeuLysGluGluTyrAsnAspProProIleTyrValThrGluAsnGlyValSerGlnArgGluGluThrAspLeuAsnAspThrAlaArgIleTyrTyrLeuArgThrTyrIleAsnGluAlaLeuLysAlaValGlnAspLysValAspLeuArgGlyTyrThrValTrpSerAlaMetAspAsnPheGluTrpAlaThrGlyPheSerGluArgPheGlyLeuHisPheValAsnTyrSerAspProSerLeuProArgIleProLysAlaSerAlaLysPheTyrAlaSerValValArgCysAsnGlyPheProAspProAlaThrGlyProHisAlaCysLeuHisGlnProAspAlaGlyProThrIleSerProValArgGlnGluGluValGlnPheLeuGlyLeuMetLeuGlyThrThrGluAlaGlnThrAlaLeuTyrValLeuPheSerLeuValLeuLeuGlyValCysGlyLeuAlaPheLeuSerTyrLysTyrCysLysArgSerLysGlnGlyLysThrGlnArgSerGlnGlnGluLeuSerProValSerSerPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742630",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264162.7:c.4419C>G"
          },
          "RefSeq": {
            "hgvs": "NM_002299.4:c.4419C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264162.2:p.Tyr1473Ter"
          },
          "RefSeq": {
            "hgvs": "NP_002290.2:p.Tyr1473Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4430,
          "referenceAllele": "C",
          "start": 4429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006530",
      "geneNCBI_id": 3938,
      "geneSymbol": "LCT",
      "hgvs": [
        "ENST00000264162.6:c.4419C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264162.2:p.Tyr1473Ter",
        "hgvsWellDefined": "ENSP00000264162.2:p.Tyr1473_Phe1927delinsValArgLeuIleAspThrLeuLeuAlaAlaSerIleGlnProGlnValThrIleTyrHisTrpAspLeuProGlnThrLeuGlnAspValGlyGlyTrpGluAsnGluThrIleValGlnArgPheLysGluTyrAlaAspValLeuPheGlnArgLeuGlyAspLysValLysPheTrpIleThrLeuAsnGluProPheValIleAlaTyrGlnGlyTyrGlyTyrGlyThrAlaAlaProGlyValSerAsnArgProGlyThrAlaProTyrIleValGlyHisAsnLeuIleLysAlaHisAlaGluAlaTrpHisLeuTyrAsnAspValTyrArgAlaSerGlnGlyGlyValIleSerIleThrIleSerSerAspTrpAlaGluProArgAspProSerAsnGlnGluAspValGluAlaAlaArgArgTyrValGlnPheMetGlyGlyTrpPheAlaHisProIlePheLysAsnGlyAspTyrAsnGluValMetLysThrArgIleArgAspArgSerLeuAlaAlaGlyLeuAsnLysSerArgLeuProGluPheThrGluSerGluLysArgArgIleAsnGlyThrTyrAspPhePheGlyPheAsnHisTyrThrThrValLeuAlaTyrAsnLeuAsnTyrAlaThrAlaIleSerSerPheAspAlaAspArgGlyValAlaSerIleAlaAspArgSerTrpProAspSerGlySerPheTrpLeuLysMetThrProPheGlyPheArgArgIleLeuAsnTrpLeuLysGluGluTyrAsnAspProProIleTyrValThrGluAsnGlyValSerGlnArgGluGluThrAspLeuAsnAspThrAlaArgIleTyrTyrLeuArgThrTyrIleAsnGluAlaLeuLysAlaValGlnAspLysValAspLeuArgGlyTyrThrValTrpSerAlaMetAspAsnPheGluTrpAlaThrGlyPheSerGluArgPheGlyLeuHisPheValAsnTyrSerAspProSerLeuProArgIleProLysAlaSerAlaLysPheTyrAlaSerValValArgCysAsnGlyPheProAspProAlaThrGlyProHisAlaCysLeuHisGlnProAspAlaGlyProThrIleSerProValArgGlnGluGluValGlnPheLeuGlyLeuMetLeuGlyThrThrGluAlaGlnThrAlaLeuTyrValLeuPheSerLeuValLeuLeuGlyValCysGlyLeuAlaPheLeuSerTyrLysTyrCysLysArgSerLysGlnGlyLysThrGlnArgSerGlnGlnGluLeuSerProValSerSerPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251433"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2715,
          "referenceAllele": "C",
          "start": 2714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006530",
      "geneNCBI_id": 3938,
      "geneSymbol": "LCT",
      "hgvs": [
        "ENST00000452974.1:c.2715C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000391231.1:p.Tyr905Ter",
        "hgvsWellDefined": "ENSP00000391231.1:p.Tyr905_Gln1003delinsValArgLeuIleAspThrLeuLeuAlaAlaSerIleGlnProGlnValThrIleTyrHisTrpAspLeuProGlnThrLeuGlnAspValGlyGlyTrpGluAsnGluThrIleValGlnArgPheLysGluTyrAlaAspValLeuPheGlnArgLeuGlyAspLysValLysPheTrpIleThrLeuAsnGluProPheValIleAlaTyrGlnGlyTyrGlyTyrGlyThrAlaAlaProValHisGlyArgLeuValCysThrSerTyrPheGlnGluTrpArgLeuGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS301870"
    },
    {
      "@id": "http://reg.genome.network/allele/PA144317",
      "coordinates": [
        {
          "allele": "G",
          "end": 4430,
          "referenceAllele": "C",
          "start": 4429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006530",
      "geneNCBI_id": 3938,
      "geneSymbol": "LCT",
      "hgvs": [
        "NM_002299.2:c.4419C>G",
        "LRG_338t1:c.4419C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002290.2:p.Tyr1473Ter",
        "hgvsWellDefined": "NP_002290.2:p.Tyr1473_Phe1927delinsValArgLeuIleAspThrLeuLeuAlaAlaSerIleGlnProGlnValThrIleTyrHisTrpAspLeuProGlnThrLeuGlnAspValGlyGlyTrpGluAsnGluThrIleValGlnArgPheLysGluTyrAlaAspValLeuPheGlnArgLeuGlyAspLysValLysPheTrpIleThrLeuAsnGluProPheValIleAlaTyrGlnGlyTyrGlyTyrGlyThrAlaAlaProGlyValSerAsnArgProGlyThrAlaProTyrIleValGlyHisAsnLeuIleLysAlaHisAlaGluAlaTrpHisLeuTyrAsnAspValTyrArgAlaSerGlnGlyGlyValIleSerIleThrIleSerSerAspTrpAlaGluProArgAspProSerAsnGlnGluAspValGluAlaAlaArgArgTyrValGlnPheMetGlyGlyTrpPheAlaHisProIlePheLysAsnGlyAspTyrAsnGluValMetLysThrArgIleArgAspArgSerLeuAlaAlaGlyLeuAsnLysSerArgLeuProGluPheThrGluSerGluLysArgArgIleAsnGlyThrTyrAspPhePheGlyPheAsnHisTyrThrThrValLeuAlaTyrAsnLeuAsnTyrAlaThrAlaIleSerSerPheAspAlaAspArgGlyValAlaSerIleAlaAspArgSerTrpProAspSerGlySerPheTrpLeuLysMetThrProPheGlyPheArgArgIleLeuAsnTrpLeuLysGluGluTyrAsnAspProProIleTyrValThrGluAsnGlyValSerGlnArgGluGluThrAspLeuAsnAspThrAlaArgIleTyrTyrLeuArgThrTyrIleAsnGluAlaLeuLysAlaValGlnAspLysValAspLeuArgGlyTyrThrValTrpSerAlaMetAspAsnPheGluTrpAlaThrGlyPheSerGluArgPheGlyLeuHisPheValAsnTyrSerAspProSerLeuProArgIleProLysAlaSerAlaLysPheTyrAlaSerValValArgCysAsnGlyPheProAspProAlaThrGlyProHisAlaCysLeuHisGlnProAspAlaGlyProThrIleSerProValArgGlnGluGluValGlnPheLeuGlyLeuMetLeuGlyThrThrGluAlaGlnThrAlaLeuTyrValLeuPheSerLeuValLeuLeuGlyValCysGlyLeuAlaPheLeuSerTyrLysTyrCysLysArgSerLysGlnGlyLysThrGlnArgSerGlnGlnGluLeuSerProValSerSerPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027619"
    },
    {
      "@id": "http://reg.genome.network/allele/PA144317",
      "coordinates": [
        {
          "allele": "G",
          "end": 4430,
          "referenceAllele": "C",
          "start": 4429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006530",
      "geneNCBI_id": 3938,
      "geneSymbol": "LCT",
      "hgvs": [
        "NM_002299.3:c.4419C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002290.2:p.Tyr1473Ter",
        "hgvsWellDefined": "NP_002290.2:p.Tyr1473_Phe1927delinsValArgLeuIleAspThrLeuLeuAlaAlaSerIleGlnProGlnValThrIleTyrHisTrpAspLeuProGlnThrLeuGlnAspValGlyGlyTrpGluAsnGluThrIleValGlnArgPheLysGluTyrAlaAspValLeuPheGlnArgLeuGlyAspLysValLysPheTrpIleThrLeuAsnGluProPheValIleAlaTyrGlnGlyTyrGlyTyrGlyThrAlaAlaProGlyValSerAsnArgProGlyThrAlaProTyrIleValGlyHisAsnLeuIleLysAlaHisAlaGluAlaTrpHisLeuTyrAsnAspValTyrArgAlaSerGlnGlyGlyValIleSerIleThrIleSerSerAspTrpAlaGluProArgAspProSerAsnGlnGluAspValGluAlaAlaArgArgTyrValGlnPheMetGlyGlyTrpPheAlaHisProIlePheLysAsnGlyAspTyrAsnGluValMetLysThrArgIleArgAspArgSerLeuAlaAlaGlyLeuAsnLysSerArgLeuProGluPheThrGluSerGluLysArgArgIleAsnGlyThrTyrAspPhePheGlyPheAsnHisTyrThrThrValLeuAlaTyrAsnLeuAsnTyrAlaThrAlaIleSerSerPheAspAlaAspArgGlyValAlaSerIleAlaAspArgSerTrpProAspSerGlySerPheTrpLeuLysMetThrProPheGlyPheArgArgIleLeuAsnTrpLeuLysGluGluTyrAsnAspProProIleTyrValThrGluAsnGlyValSerGlnArgGluGluThrAspLeuAsnAspThrAlaArgIleTyrTyrLeuArgThrTyrIleAsnGluAlaLeuLysAlaValGlnAspLysValAspLeuArgGlyTyrThrValTrpSerAlaMetAspAsnPheGluTrpAlaThrGlyPheSerGluArgPheGlyLeuHisPheValAsnTyrSerAspProSerLeuProArgIleProLysAlaSerAlaLysPheTyrAlaSerValValArgCysAsnGlyPheProAspProAlaThrGlyProHisAlaCysLeuHisGlnProAspAlaGlyProThrIleSerProValArgGlnGluGluValGlnPheLeuGlyLeuMetLeuGlyThrThrGluAlaGlnThrAlaLeuTyrValLeuPheSerLeuValLeuLeuGlyValCysGlyLeuAlaPheLeuSerTyrLysTyrCysLysArgSerLysGlnGlyLysThrGlnArgSerGlnGlnGluLeuSerProValSerSerPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524980"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4445,
          "referenceAllele": "C",
          "start": 4444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006530",
      "geneNCBI_id": 3938,
      "geneSymbol": "LCT",
      "hgvs": [
        "XM_017004088.2:c.4419C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859577.1:p.Tyr1473Ter",
        "hgvsWellDefined": "XP_016859577.1:p.Tyr1473_Ser1706delinsValArgLeuIleAspThrLeuLeuAlaAlaSerIleGlnProGlnValThrIleTyrHisTrpAspLeuProGlnThrLeuGlnAspValGlyGlyTrpGluAsnGluThrIleValGlnArgPheLysGluTyrAlaAspValLeuPheGlnArgLeuGlyAspLysValLysPheTrpIleThrLeuAsnGluProPheValIleAlaTyrGlnGlyTyrGlyTyrGlyThrAlaAlaProGlyValSerAsnArgProGlyThrAlaProTyrIleValGlyHisAsnLeuIleLysAlaHisAlaGluAlaTrpHisLeuTyrAsnAspValTyrArgAlaSerGlnGlyGlyValIleSerIleThrIleSerSerAspTrpAlaGluProArgAspProSerAsnGlnGluAspValGluAlaAlaArgArgTyrValGlnPheMetGlyGlyTrpPheAlaHisProIlePheLysAsnGlyAspTyrAsnGluValMetLysThrArgIleArgAspArgSerLeuAlaAlaGlyLeuAsnLysSerArgLeuProGluPheThrGluSerGluLysArgArgIleAsnGlyThrTyrAspPhePheGlyPheAsnHisTyrThrThrValLeuAlaTyrAsnLeuAsnTyrAlaThrAlaIleSerSerPheAspAlaAspArgAlaSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559684"
    },
    {
      "@id": "http://reg.genome.network/allele/PA144317",
      "coordinates": [
        {
          "allele": "G",
          "end": 4434,
          "referenceAllele": "C",
          "start": 4433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006530",
      "geneNCBI_id": 3938,
      "geneSymbol": "LCT",
      "hgvs": [
        "NM_002299.4:c.4419C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002290.2:p.Tyr1473Ter",
        "hgvsWellDefined": "NP_002290.2:p.Tyr1473_Phe1927delinsValArgLeuIleAspThrLeuLeuAlaAlaSerIleGlnProGlnValThrIleTyrHisTrpAspLeuProGlnThrLeuGlnAspValGlyGlyTrpGluAsnGluThrIleValGlnArgPheLysGluTyrAlaAspValLeuPheGlnArgLeuGlyAspLysValLysPheTrpIleThrLeuAsnGluProPheValIleAlaTyrGlnGlyTyrGlyTyrGlyThrAlaAlaProGlyValSerAsnArgProGlyThrAlaProTyrIleValGlyHisAsnLeuIleLysAlaHisAlaGluAlaTrpHisLeuTyrAsnAspValTyrArgAlaSerGlnGlyGlyValIleSerIleThrIleSerSerAspTrpAlaGluProArgAspProSerAsnGlnGluAspValGluAlaAlaArgArgTyrValGlnPheMetGlyGlyTrpPheAlaHisProIlePheLysAsnGlyAspTyrAsnGluValMetLysThrArgIleArgAspArgSerLeuAlaAlaGlyLeuAsnLysSerArgLeuProGluPheThrGluSerGluLysArgArgIleAsnGlyThrTyrAspPhePheGlyPheAsnHisTyrThrThrValLeuAlaTyrAsnLeuAsnTyrAlaThrAlaIleSerSerPheAspAlaAspArgGlyValAlaSerIleAlaAspArgSerTrpProAspSerGlySerPheTrpLeuLysMetThrProPheGlyPheArgArgIleLeuAsnTrpLeuLysGluGluTyrAsnAspProProIleTyrValThrGluAsnGlyValSerGlnArgGluGluThrAspLeuAsnAspThrAlaArgIleTyrTyrLeuArgThrTyrIleAsnGluAlaLeuLysAlaValGlnAspLysValAspLeuArgGlyTyrThrValTrpSerAlaMetAspAsnPheGluTrpAlaThrGlyPheSerGluArgPheGlyLeuHisPheValAsnTyrSerAspProSerLeuProArgIleProLysAlaSerAlaLysPheTyrAlaSerValValArgCysAsnGlyPheProAspProAlaThrGlyProHisAlaCysLeuHisGlnProAspAlaGlyProThrIleSerProValArgGlnGluGluValGlnPheLeuGlyLeuMetLeuGlyThrThrGluAlaGlnThrAlaLeuTyrValLeuPheSerLeuValLeuLeuGlyValCysGlyLeuAlaPheLeuSerTyrLysTyrCysLysArgSerLysGlnGlyLysThrGlnArgSerGlnGlnGluLeuSerProValSerSerPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665460",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264162.7:c.4419C>G"
          },
          "RefSeq": {
            "hgvs": "NM_002299.4:c.4419C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264162.2:p.Tyr1473Ter"
          },
          "RefSeq": {
            "hgvs": "NP_002290.2:p.Tyr1473Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}