{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16602353",
  "communityStandardTitle": [
    "NM_000527.5(LDLR):c.2479G>T (p.Val827Phe)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=362732[alleleid]",
        "alleleId": 362732,
        "preferredName": "NM_000527.5(LDLR):c.2479G>T (p.Val827Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/375840",
        "RCV": [
          "RCV000417325",
          "RCV001248957"
        ],
        "variationId": 375840
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.11240278G>T?assembly=hg19",
        "id": "chr19:g.11240278G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.11129602G>T?assembly=hg38",
        "id": "chr19:g.11129602G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/137853964",
        "rs": 137853964
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-11129602-G-T?dataset=gnomad_r4",
        "id": "19-11129602-G-T",
        "variant": "19:11129602 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 11129602,
          "referenceAllele": "G",
          "start": 11129601
        }
      ],
      "hgvs": [
        "NC_000019.10:g.11129602G>T",
        "CM000681.2:g.11129602G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 11240278,
          "referenceAllele": "G",
          "start": 11240277
        }
      ],
      "hgvs": [
        "NC_000019.9:g.11240278G>T",
        "CM000681.1:g.11240278G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 11101278,
          "referenceAllele": "G",
          "start": 11101277
        }
      ],
      "hgvs": [
        "NC_000019.8:g.11101278G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 45222,
          "referenceAllele": "G",
          "start": 45221
        }
      ],
      "hgvs": [
        "NG_009060.1:g.45222G>T",
        "LRG_274:g.45222G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001402"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2753,
          "referenceAllele": "G",
          "start": 2752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "ENST00000252444.10:c.2737G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000252444.6:p.Val913Phe",
        "hgvsWellDefined": "ENSP00000252444.6:p.Val913Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS913948"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2470,
          "referenceAllele": "G",
          "start": 2469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "ENST00000559340.2:c.*548G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453696.2:n.*548G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914275"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2444,
          "referenceAllele": "G",
          "start": 2443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "ENST00000560467.2:c.2359G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453513.2:p.Val787Phe",
        "hgvsWellDefined": "ENSP00000453513.2:p.Val787Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914281"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2565,
          "referenceAllele": "G",
          "start": 2564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "ENST00000558518.6:c.2479G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454071.1:p.Val827Phe",
        "hgvsWellDefined": "ENSP00000454071.1:p.Val827Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760238",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000558518.6:c.2479G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000527.5:c.2479G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000454071.1:p.Val827Phe"
          },
          "RefSeq": {
            "hgvs": "NP_000518.1:p.Val827Phe"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2733,
          "referenceAllele": "G",
          "start": 2732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "ENST00000252444.9:c.2733G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS247326"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2061,
          "referenceAllele": "G",
          "start": 2060
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "ENST00000455727.6:c.1975G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000397829.2:p.Val659Phe",
        "hgvsWellDefined": "ENSP00000397829.2:p.Val659Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247277"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2442,
          "referenceAllele": "G",
          "start": 2441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "ENST00000535915.5:c.2356G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440520.1:p.Val786Phe",
        "hgvsWellDefined": "ENSP00000440520.1:p.Val786Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246643"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2031,
          "referenceAllele": "G",
          "start": 2030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "ENST00000545707.5:c.1945G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437639.1:p.Val649Phe",
        "hgvsWellDefined": "ENSP00000437639.1:p.Val649Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247253"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2628,
          "referenceAllele": "G",
          "start": 2627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "ENST00000557933.5:c.2541G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453557.1:p.Pro847="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247231"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2550,
          "referenceAllele": "G",
          "start": 2549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "ENST00000558013.5:c.2479G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453346.1:p.Val827Phe",
        "hgvsWellDefined": "ENSP00000453346.1:p.Val827Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247327"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2666,
          "referenceAllele": "G",
          "start": 2665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "ENST00000558518.5:c.2479G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454071.1:p.Val827Phe",
        "hgvsWellDefined": "ENSP00000454071.1:p.Val827Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246630"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 108,
          "endIntronDirection": "+",
          "endIntronOffset": 1948,
          "referenceAllele": "G",
          "start": 108,
          "startIntronDirection": "+",
          "startIntronOffset": 1947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "ENST00000560628.1:n.108+1948G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS375490"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645380893",
      "coordinates": [
        {
          "allele": "T",
          "end": 2666,
          "referenceAllele": "G",
          "start": 2665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "NM_000527.4:c.2479G>T",
        "LRG_274t1:c.2479G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000518.1:p.Val827Phe",
        "hgvsWellDefined": "NP_000518.1:p.Val827Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006584"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916001369",
      "coordinates": [
        {
          "allele": "T",
          "end": 2666,
          "referenceAllele": "G",
          "start": 2665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "NM_001195798.1:c.2479G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182727.1:p.Val827Phe",
        "hgvsWellDefined": "NP_001182727.1:p.Val827Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016674"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826214122",
      "coordinates": [
        {
          "allele": "T",
          "end": 2543,
          "referenceAllele": "G",
          "start": 2542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "NM_001195799.1:c.2356G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182728.1:p.Val786Phe",
        "hgvsWellDefined": "NP_001182728.1:p.Val786Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016675"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826215899",
      "coordinates": [
        {
          "allele": "T",
          "end": 2162,
          "referenceAllele": "G",
          "start": 2161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "NM_001195800.1:c.1975G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182729.1:p.Val659Phe",
        "hgvsWellDefined": "NP_001182729.1:p.Val659Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016676"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826217465",
      "coordinates": [
        {
          "allele": "T",
          "end": 2132,
          "referenceAllele": "G",
          "start": 2131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "NM_001195803.1:c.1945G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182732.1:p.Val649Phe",
        "hgvsWellDefined": "NP_001182732.1:p.Val649Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016677"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2551,
          "referenceAllele": "G",
          "start": 2550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "XM_011528010.1:c.2401G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526312.1:p.Val801Phe",
        "hgvsWellDefined": "XP_011526312.1:p.Val801Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095090"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2280,
          "referenceAllele": "G",
          "start": 2279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "XM_011528011.1:c.2098G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526313.1:p.Val700Phe",
        "hgvsWellDefined": "XP_011526313.1:p.Val700Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095091"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2518,
          "referenceAllele": "G",
          "start": 2517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "XM_011528010.2:c.2401G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526312.1:p.Val801Phe",
        "hgvsWellDefined": "XP_011526312.1:p.Val801Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548934"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2813,
          "referenceAllele": "G",
          "start": 2812
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "XR_001753685.2:n.2813G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600154"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2456,
          "referenceAllele": "G",
          "start": 2455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "XR_001753686.2:n.2456G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600155"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645380893",
      "coordinates": [
        {
          "allele": "T",
          "end": 2565,
          "referenceAllele": "G",
          "start": 2564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "NM_000527.5:c.2479G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000518.1:p.Val827Phe",
        "hgvsWellDefined": "NP_000518.1:p.Val827Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674880",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000558518.6:c.2479G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000527.5:c.2479G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000454071.1:p.Val827Phe"
          },
          "RefSeq": {
            "hgvs": "NP_000518.1:p.Val827Phe"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916001369",
      "coordinates": [
        {
          "allele": "T",
          "end": 2565,
          "referenceAllele": "G",
          "start": 2564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "NM_001195798.2:c.2479G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182727.1:p.Val827Phe",
        "hgvsWellDefined": "NP_001182727.1:p.Val827Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679343"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826214122",
      "coordinates": [
        {
          "allele": "T",
          "end": 2442,
          "referenceAllele": "G",
          "start": 2441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "NM_001195799.2:c.2356G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182728.1:p.Val786Phe",
        "hgvsWellDefined": "NP_001182728.1:p.Val786Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679344"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826215899",
      "coordinates": [
        {
          "allele": "T",
          "end": 2061,
          "referenceAllele": "G",
          "start": 2060
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "NM_001195800.2:c.1975G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182729.1:p.Val659Phe",
        "hgvsWellDefined": "NP_001182729.1:p.Val659Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679345"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826217465",
      "coordinates": [
        {
          "allele": "T",
          "end": 2031,
          "referenceAllele": "G",
          "start": 2030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "NM_001195803.2:c.1945G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182732.1:p.Val649Phe",
        "hgvsWellDefined": "NP_001182732.1:p.Val649Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679346"
    }
  ],
  "type": "nucleotide"
}