{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA036508",
  "communityStandardTitle": [
    "NM_000527.5(LDLR):c.1765G>A (p.Asp589Asn)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=246323[alleleid]",
        "alleleId": 246323,
        "preferredName": "NM_000527.5(LDLR):c.1765G>A (p.Asp589Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/252022",
        "RCV": [
          "RCV000237292",
          "RCV000775077",
          "RCV000845536",
          "RCV002401946",
          "RCV003155136"
        ],
        "variationId": 252022
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/19-11227594-G-A",
        "id": "19-11227594-G-A",
        "variant": "19:11227594 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.11227594G>A?assembly=hg19",
        "id": "chr19:g.11227594G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.11116918G>A?assembly=hg38",
        "id": "chr19:g.11116918G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/201971888",
        "rs": 201971888
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-11227594-G-A?dataset=gnomad_r2_1",
        "id": "19-11227594-G-A",
        "variant": "19:11227594 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-11116918-G-A?dataset=gnomad_r3",
        "id": "19-11116918-G-A",
        "variant": "19:11116918 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-11116918-G-A?dataset=gnomad_r4",
        "id": "19-11116918-G-A",
        "variant": "19:11116918 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 11116918,
          "referenceAllele": "G",
          "start": 11116917
        }
      ],
      "hgvs": [
        "NC_000019.10:g.11116918G>A",
        "CM000681.2:g.11116918G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 11227594,
          "referenceAllele": "G",
          "start": 11227593
        }
      ],
      "hgvs": [
        "NC_000019.9:g.11227594G>A",
        "CM000681.1:g.11227594G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 11088594,
          "referenceAllele": "G",
          "start": 11088593
        }
      ],
      "hgvs": [
        "NC_000019.8:g.11088594G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 32538,
          "referenceAllele": "G",
          "start": 32537
        }
      ],
      "hgvs": [
        "NG_009060.1:g.32538G>A",
        "LRG_274:g.32538G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001402"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2039,
          "referenceAllele": "G",
          "start": 2038
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "ENST00000252444.10:c.2023G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000252444.6:p.Asp675Asn",
        "hgvsWellDefined": "ENSP00000252444.6:p.Asp675Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS913948"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1836,
          "endIntronDirection": "+",
          "endIntronOffset": 706,
          "referenceAllele": "G",
          "start": 1836,
          "startIntronDirection": "+",
          "startIntronOffset": 705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "ENST00000559340.2:c.1705+706G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453696.2:n.1705+706G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914275"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1730,
          "referenceAllele": "G",
          "start": 1729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "ENST00000560467.2:c.1645G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453513.2:p.Asp549Asn",
        "hgvsWellDefined": "ENSP00000453513.2:p.Asp549Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914281"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1851,
          "referenceAllele": "G",
          "start": 1850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "ENST00000558518.6:c.1765G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454071.1:p.Asp589Asn",
        "hgvsWellDefined": "ENSP00000454071.1:p.Asp589Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760238",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000558518.6:c.1765G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000527.5:c.1765G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000454071.1:p.Asp589Asn"
          },
          "RefSeq": {
            "hgvs": "NP_000518.1:p.Asp589Asn"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2019,
          "referenceAllele": "G",
          "start": 2018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "ENST00000252444.9:c.2019G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS247326"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1347,
          "referenceAllele": "G",
          "start": 1346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "ENST00000455727.6:c.1261G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000397829.2:p.Asp421Asn",
        "hgvsWellDefined": "ENSP00000397829.2:p.Asp421Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247277"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1728,
          "referenceAllele": "G",
          "start": 1727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "ENST00000535915.5:c.1642G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440520.1:p.Asp548Asn",
        "hgvsWellDefined": "ENSP00000440520.1:p.Asp548Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246643"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1470,
          "referenceAllele": "G",
          "start": 1469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "ENST00000545707.5:c.1384G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437639.1:p.Asp462Asn",
        "hgvsWellDefined": "ENSP00000437639.1:p.Asp462Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247253"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1852,
          "referenceAllele": "G",
          "start": 1851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "ENST00000557933.5:c.1765G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453557.1:p.Asp589Asn",
        "hgvsWellDefined": "ENSP00000453557.1:p.Asp589Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247231"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1836,
          "referenceAllele": "G",
          "start": 1835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "ENST00000558013.5:c.1765G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453346.1:p.Asp589Asn",
        "hgvsWellDefined": "ENSP00000453346.1:p.Asp589Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247327"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1952,
          "referenceAllele": "G",
          "start": 1951
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "ENST00000558518.5:c.1765G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454071.1:p.Asp589Asn",
        "hgvsWellDefined": "ENSP00000454071.1:p.Asp589Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246630"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 426,
          "endIntronDirection": "+",
          "endIntronOffset": 706,
          "referenceAllele": "G",
          "start": 426,
          "startIntronDirection": "+",
          "startIntronOffset": 705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "ENST00000559340.1:c.426+706G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS374505"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645379477",
      "coordinates": [
        {
          "allele": "A",
          "end": 1952,
          "referenceAllele": "G",
          "start": 1951
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "NM_000527.4:c.1765G>A",
        "LRG_274t1:c.1765G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000518.1:p.Asp589Asn",
        "hgvsWellDefined": "NP_000518.1:p.Asp589Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006584"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916000623",
      "coordinates": [
        {
          "allele": "A",
          "end": 1952,
          "referenceAllele": "G",
          "start": 1951
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "NM_001195798.1:c.1765G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182727.1:p.Asp589Asn",
        "hgvsWellDefined": "NP_001182727.1:p.Asp589Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016674"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826213578",
      "coordinates": [
        {
          "allele": "A",
          "end": 1829,
          "referenceAllele": "G",
          "start": 1828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "NM_001195799.1:c.1642G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182728.1:p.Asp548Asn",
        "hgvsWellDefined": "NP_001182728.1:p.Asp548Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016675"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826215355",
      "coordinates": [
        {
          "allele": "A",
          "end": 1448,
          "referenceAllele": "G",
          "start": 1447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "NM_001195800.1:c.1261G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182729.1:p.Asp421Asn",
        "hgvsWellDefined": "NP_001182729.1:p.Asp421Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016676"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826217057",
      "coordinates": [
        {
          "allele": "A",
          "end": 1571,
          "referenceAllele": "G",
          "start": 1570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "NM_001195803.1:c.1384G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182732.1:p.Asp462Asn",
        "hgvsWellDefined": "NP_001182732.1:p.Asp462Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016677"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1915,
          "referenceAllele": "G",
          "start": 1914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "XM_011528010.1:c.1765G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526312.1:p.Asp589Asn",
        "hgvsWellDefined": "XP_011526312.1:p.Asp589Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095090"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1566,
          "referenceAllele": "G",
          "start": 1565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "XM_011528011.1:c.1384G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526313.1:p.Asp462Asn",
        "hgvsWellDefined": "XP_011526313.1:p.Asp462Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095091"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1855,
          "endIntronDirection": "+",
          "endIntronOffset": 706,
          "referenceAllele": "G",
          "start": 1855,
          "startIntronDirection": "+",
          "startIntronOffset": 705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "XR_244074.2:n.1855+706G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116667"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1882,
          "referenceAllele": "G",
          "start": 1881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "XM_011528010.2:c.1765G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526312.1:p.Asp589Asn",
        "hgvsWellDefined": "XP_011526312.1:p.Asp589Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548934"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1882,
          "referenceAllele": "G",
          "start": 1881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "XR_001753685.2:n.1882G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600154"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1822,
          "endIntronDirection": "+",
          "endIntronOffset": 706,
          "referenceAllele": "G",
          "start": 1822,
          "startIntronDirection": "+",
          "startIntronOffset": 705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "XR_001753686.2:n.1822+706G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600155"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645379477",
      "coordinates": [
        {
          "allele": "A",
          "end": 1851,
          "referenceAllele": "G",
          "start": 1850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "NM_000527.5:c.1765G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000518.1:p.Asp589Asn",
        "hgvsWellDefined": "NP_000518.1:p.Asp589Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674880",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000558518.6:c.1765G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000527.5:c.1765G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000454071.1:p.Asp589Asn"
          },
          "RefSeq": {
            "hgvs": "NP_000518.1:p.Asp589Asn"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916000623",
      "coordinates": [
        {
          "allele": "A",
          "end": 1851,
          "referenceAllele": "G",
          "start": 1850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "NM_001195798.2:c.1765G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182727.1:p.Asp589Asn",
        "hgvsWellDefined": "NP_001182727.1:p.Asp589Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679343"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826213578",
      "coordinates": [
        {
          "allele": "A",
          "end": 1728,
          "referenceAllele": "G",
          "start": 1727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "NM_001195799.2:c.1642G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182728.1:p.Asp548Asn",
        "hgvsWellDefined": "NP_001182728.1:p.Asp548Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679344"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826215355",
      "coordinates": [
        {
          "allele": "A",
          "end": 1347,
          "referenceAllele": "G",
          "start": 1346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "NM_001195800.2:c.1261G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182729.1:p.Asp421Asn",
        "hgvsWellDefined": "NP_001182729.1:p.Asp421Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679345"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826217057",
      "coordinates": [
        {
          "allele": "A",
          "end": 1470,
          "referenceAllele": "G",
          "start": 1469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "NM_001195803.2:c.1384G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182732.1:p.Asp462Asn",
        "hgvsWellDefined": "NP_001182732.1:p.Asp462Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679346"
    }
  ],
  "type": "nucleotide"
}