{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA404080780",
  "communityStandardTitle": [
    "NM_000527.5(LDLR):c.865T>G (p.Cys289Gly)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=422234[alleleid]",
        "alleleId": 422234,
        "preferredName": "NM_000527.5(LDLR):c.865T>G (p.Cys289Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/430287",
        "RCV": [
          "RCV000493555"
        ],
        "variationId": 430287
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.11218115T>G?assembly=hg19",
        "id": "chr19:g.11218115T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.11107439T>G?assembly=hg38",
        "id": "chr19:g.11107439T>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/879254697",
        "rs": 879254697
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 11107439,
          "referenceAllele": "T",
          "start": 11107438
        }
      ],
      "hgvs": [
        "NC_000019.10:g.11107439T>G",
        "CM000681.2:g.11107439T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 11218115,
          "referenceAllele": "T",
          "start": 11218114
        }
      ],
      "hgvs": [
        "NC_000019.9:g.11218115T>G",
        "CM000681.1:g.11218115T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 11079115,
          "referenceAllele": "T",
          "start": 11079114
        }
      ],
      "hgvs": [
        "NC_000019.8:g.11079115T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 23059,
          "referenceAllele": "T",
          "start": 23058
        }
      ],
      "hgvs": [
        "NG_009060.1:g.23059T>G",
        "LRG_274:g.23059T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001402"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1139,
          "referenceAllele": "T",
          "start": 1138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "ENST00000252444.10:c.1123T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000252444.6:p.Cys375Gly",
        "hgvsWellDefined": "ENSP00000252444.6:p.Cys375Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS913948"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 996,
          "referenceAllele": "T",
          "start": 995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "ENST00000559340.2:c.865T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453696.2:p.Cys289Gly",
        "hgvsWellDefined": "ENSP00000453696.2:p.Cys289Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914275"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 950,
          "referenceAllele": "T",
          "start": 949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "ENST00000560467.2:c.865T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453513.2:p.Cys289Gly",
        "hgvsWellDefined": "ENSP00000453513.2:p.Cys289Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914281"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 951,
          "referenceAllele": "T",
          "start": 950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "ENST00000558518.6:c.865T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454071.1:p.Cys289Gly",
        "hgvsWellDefined": "ENSP00000454071.1:p.Cys289Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760238",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000558518.6:c.865T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000527.5:c.865T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000454071.1:p.Cys289Gly"
          },
          "RefSeq": {
            "hgvs": "NP_000518.1:p.Cys289Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1119,
          "referenceAllele": "T",
          "start": 1118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "ENST00000252444.9:c.1119T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS247326"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 447,
          "referenceAllele": "T",
          "start": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "ENST00000455727.6:c.361T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000397829.2:p.Cys121Gly",
        "hgvsWellDefined": "ENSP00000397829.2:p.Cys121Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247277"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 828,
          "referenceAllele": "T",
          "start": 827
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "ENST00000535915.5:c.742T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440520.1:p.Cys248Gly",
        "hgvsWellDefined": "ENSP00000440520.1:p.Cys248Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246643"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 570,
          "referenceAllele": "T",
          "start": 569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "ENST00000545707.5:c.484T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437639.1:p.Cys162Gly",
        "hgvsWellDefined": "ENSP00000437639.1:p.Cys162Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247253"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 952,
          "referenceAllele": "T",
          "start": 951
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "ENST00000557933.5:c.865T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453557.1:p.Cys289Gly",
        "hgvsWellDefined": "ENSP00000453557.1:p.Cys289Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247231"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 936,
          "referenceAllele": "T",
          "start": 935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "ENST00000558013.5:c.865T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453346.1:p.Cys289Gly",
        "hgvsWellDefined": "ENSP00000453346.1:p.Cys289Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247327"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1052,
          "referenceAllele": "T",
          "start": 1051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "ENST00000558518.5:c.865T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454071.1:p.Cys289Gly",
        "hgvsWellDefined": "ENSP00000454071.1:p.Cys289Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246630"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 380,
          "referenceAllele": "T",
          "start": 379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "ENST00000558528.1:n.380T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS373868"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 465,
          "referenceAllele": "T",
          "start": 464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "ENST00000560467.1:c.465T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS247257"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645377431",
      "coordinates": [
        {
          "allele": "G",
          "end": 1052,
          "referenceAllele": "T",
          "start": 1051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "NM_000527.4:c.865T>G",
        "LRG_274t1:c.865T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000518.1:p.Cys289Gly",
        "hgvsWellDefined": "NP_000518.1:p.Cys289Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006584"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915999137",
      "coordinates": [
        {
          "allele": "G",
          "end": 1052,
          "referenceAllele": "T",
          "start": 1051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "NM_001195798.1:c.865T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182727.1:p.Cys289Gly",
        "hgvsWellDefined": "NP_001182727.1:p.Cys289Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016674"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826212697",
      "coordinates": [
        {
          "allele": "G",
          "end": 929,
          "referenceAllele": "T",
          "start": 928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "NM_001195799.1:c.742T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182728.1:p.Cys248Gly",
        "hgvsWellDefined": "NP_001182728.1:p.Cys248Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016675"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826214472",
      "coordinates": [
        {
          "allele": "G",
          "end": 548,
          "referenceAllele": "T",
          "start": 547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "NM_001195800.1:c.361T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182729.1:p.Cys121Gly",
        "hgvsWellDefined": "NP_001182729.1:p.Cys121Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016676"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826216174",
      "coordinates": [
        {
          "allele": "G",
          "end": 671,
          "referenceAllele": "T",
          "start": 670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "NM_001195803.1:c.484T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182732.1:p.Cys162Gly",
        "hgvsWellDefined": "NP_001182732.1:p.Cys162Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016677"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1015,
          "referenceAllele": "T",
          "start": 1014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "XM_011528010.1:c.865T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526312.1:p.Cys289Gly",
        "hgvsWellDefined": "XP_011526312.1:p.Cys289Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095090"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 666,
          "referenceAllele": "T",
          "start": 665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "XM_011528011.1:c.484T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526313.1:p.Cys162Gly",
        "hgvsWellDefined": "XP_011526313.1:p.Cys162Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095091"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1015,
          "referenceAllele": "T",
          "start": 1014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "XR_244074.2:n.1015T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116667"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 982,
          "referenceAllele": "T",
          "start": 981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "XM_011528010.2:c.865T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526312.1:p.Cys289Gly",
        "hgvsWellDefined": "XP_011526312.1:p.Cys289Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548934"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 982,
          "referenceAllele": "T",
          "start": 981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "XR_001753685.2:n.982T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600154"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 982,
          "referenceAllele": "T",
          "start": 981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "XR_001753686.2:n.982T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600155"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645377431",
      "coordinates": [
        {
          "allele": "G",
          "end": 951,
          "referenceAllele": "T",
          "start": 950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "NM_000527.5:c.865T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000518.1:p.Cys289Gly",
        "hgvsWellDefined": "NP_000518.1:p.Cys289Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674880",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000558518.6:c.865T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000527.5:c.865T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000454071.1:p.Cys289Gly"
          },
          "RefSeq": {
            "hgvs": "NP_000518.1:p.Cys289Gly"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA915999137",
      "coordinates": [
        {
          "allele": "G",
          "end": 951,
          "referenceAllele": "T",
          "start": 950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "NM_001195798.2:c.865T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182727.1:p.Cys289Gly",
        "hgvsWellDefined": "NP_001182727.1:p.Cys289Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679343"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826212697",
      "coordinates": [
        {
          "allele": "G",
          "end": 828,
          "referenceAllele": "T",
          "start": 827
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "NM_001195799.2:c.742T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182728.1:p.Cys248Gly",
        "hgvsWellDefined": "NP_001182728.1:p.Cys248Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679344"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826214472",
      "coordinates": [
        {
          "allele": "G",
          "end": 447,
          "referenceAllele": "T",
          "start": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "NM_001195800.2:c.361T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182729.1:p.Cys121Gly",
        "hgvsWellDefined": "NP_001182729.1:p.Cys121Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679345"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826216174",
      "coordinates": [
        {
          "allele": "G",
          "end": 570,
          "referenceAllele": "T",
          "start": 569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "NM_001195803.2:c.484T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182732.1:p.Cys162Gly",
        "hgvsWellDefined": "NP_001182732.1:p.Cys162Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679346"
    }
  ],
  "type": "nucleotide"
}