{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA267513",
  "communityStandardTitle": [
    "NM_001375808.2(LPIN2):c.1510C>T (p.Leu504Phe)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=103706[alleleid]",
        "alleleId": 103706,
        "preferredName": "NM_001375808.2(LPIN2):c.1510C>T (p.Leu504Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/97814",
        "RCV": [
          "RCV000084067",
          "RCV000221897",
          "RCV000762223",
          "RCV002262674",
          "RCV003915108"
        ],
        "variationId": 97814
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/18-2929103-G-A",
        "id": "18-2929103-G-A",
        "variant": "18:2929103 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.2929103G>A?assembly=hg19",
        "id": "chr18:g.2929103G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.2929105G>A?assembly=hg38",
        "id": "chr18:g.2929105G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104895500",
        "rs": 104895500
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-2929103-G-A?dataset=gnomad_r2_1",
        "id": "18-2929103-G-A",
        "variant": "18:2929103 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-2929105-G-A?dataset=gnomad_r3",
        "id": "18-2929105-G-A",
        "variant": "18:2929105 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-2929105-G-A?dataset=gnomad_r4",
        "id": "18-2929105-G-A",
        "variant": "18:2929105 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "A",
          "end": 2929105,
          "referenceAllele": "G",
          "start": 2929104
        }
      ],
      "hgvs": [
        "NC_000018.10:g.2929105G>A",
        "CM000680.2:g.2929105G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "A",
          "end": 2929103,
          "referenceAllele": "G",
          "start": 2929102
        }
      ],
      "hgvs": [
        "NC_000018.9:g.2929103G>A",
        "CM000680.1:g.2929103G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "A",
          "end": 2919103,
          "referenceAllele": "G",
          "start": 2919102
        }
      ],
      "hgvs": [
        "NC_000018.8:g.2919103G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 87843,
          "referenceAllele": "C",
          "start": 87842
        }
      ],
      "hgvs": [
        "NG_007507.1:g.87843C>T",
        "LRG_174:g.87843C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000627"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1819,
          "referenceAllele": "C",
          "start": 1818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "ENST00000261596.9:c.1510C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261596.4:p.Leu504Phe",
        "hgvsWellDefined": "ENSP00000261596.4:p.Leu504Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904318"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1577,
          "referenceAllele": "C",
          "start": 1576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "ENST00000697039.1:c.1510C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513061.1:p.Leu504Phe",
        "hgvsWellDefined": "ENSP00000513061.1:p.Leu504Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908470"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1625,
          "referenceAllele": "C",
          "start": 1624
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "ENST00000697040.1:c.1510C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513062.1:p.Leu504Phe",
        "hgvsWellDefined": "ENSP00000513062.1:p.Leu504Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908471"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 205,
          "referenceAllele": "C",
          "start": 204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "ENST00000697041.1:c.205C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513063.1:p.Leu69Phe",
        "hgvsWellDefined": "ENSP00000513063.1:p.Leu69Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908472"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1605,
          "referenceAllele": "C",
          "start": 1604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "ENST00000697042.1:c.1510C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513064.1:p.Leu504Phe",
        "hgvsWellDefined": "ENSP00000513064.1:p.Leu504Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908473"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1577,
          "referenceAllele": "C",
          "start": 1576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "ENST00000677752.1:c.1510C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504857.1:p.Leu504Phe",
        "hgvsWellDefined": "ENSP00000504857.1:p.Leu504Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777405",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000677752.1:c.1510C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001375808.2:c.1510C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000504857.1:p.Leu504Phe"
          },
          "RefSeq": {
            "hgvs": "NP_001362737.1:p.Leu504Phe"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1749,
          "referenceAllele": "C",
          "start": 1748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "ENST00000261596.8:c.1510C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261596.4:p.Leu504Phe",
        "hgvsWellDefined": "ENSP00000261596.4:p.Leu504Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250788"
    },
    {
      "@id": "http://reg.genome.network/allele/PA267515",
      "coordinates": [
        {
          "allele": "T",
          "end": 1749,
          "referenceAllele": "C",
          "start": 1748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "NM_014646.2:c.1510C>T",
        "LRG_174t1:c.1510C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_055461.1:p.Leu504Phe",
        "hgvsWellDefined": "NP_055461.1:p.Leu504Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033335"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1745,
          "referenceAllele": "C",
          "start": 1744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "XM_005258177.3:c.1621C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005258234.1:p.Leu541Phe",
        "hgvsWellDefined": "XP_005258234.1:p.Leu541Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061978"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1748,
          "referenceAllele": "C",
          "start": 1747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "XM_005258178.2:c.1510C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005258235.1:p.Leu504Phe",
        "hgvsWellDefined": "XP_005258235.1:p.Leu504Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061979"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1620,
          "referenceAllele": "C",
          "start": 1619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "XM_005258179.3:c.1510C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005258236.1:p.Leu504Phe",
        "hgvsWellDefined": "XP_005258236.1:p.Leu504Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061980"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1639,
          "referenceAllele": "C",
          "start": 1638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "XR_935074.1:n.1639C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS130354"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1819,
          "referenceAllele": "C",
          "start": 1818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "XM_005258177.4:c.1621C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005258234.1:p.Leu541Phe",
        "hgvsWellDefined": "XP_005258234.1:p.Leu541Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534793"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1748,
          "referenceAllele": "C",
          "start": 1747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "XM_005258178.3:c.1510C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005258235.1:p.Leu504Phe",
        "hgvsWellDefined": "XP_005258235.1:p.Leu504Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534794"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1683,
          "referenceAllele": "C",
          "start": 1682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "XM_005258179.5:c.1510C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005258236.1:p.Leu504Phe",
        "hgvsWellDefined": "XP_005258236.1:p.Leu504Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534795"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1838,
          "referenceAllele": "C",
          "start": 1837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "XM_017026098.1:c.1510C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881587.1:p.Leu504Phe",
        "hgvsWellDefined": "XP_016881587.1:p.Leu504Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576306"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1609,
          "referenceAllele": "C",
          "start": 1608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "XM_017026099.1:c.1510C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881588.1:p.Leu504Phe",
        "hgvsWellDefined": "XP_016881588.1:p.Leu504Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576307"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1684,
          "referenceAllele": "C",
          "start": 1683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "XR_935074.2:n.1684C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610881"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828628991",
      "coordinates": [
        {
          "allele": "T",
          "end": 1748,
          "referenceAllele": "C",
          "start": 1747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "NM_001375808.1:c.1510C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362737.1:p.Leu504Phe",
        "hgvsWellDefined": "NP_001362737.1:p.Leu504Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693890"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828629466",
      "coordinates": [
        {
          "allele": "T",
          "end": 1627,
          "referenceAllele": "C",
          "start": 1626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "NM_001375809.1:c.1510C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362738.1:p.Leu504Phe",
        "hgvsWellDefined": "NP_001362738.1:p.Leu504Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693891"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828628991",
      "coordinates": [
        {
          "allele": "T",
          "end": 1577,
          "referenceAllele": "C",
          "start": 1576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "NM_001375808.2:c.1510C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362737.1:p.Leu504Phe",
        "hgvsWellDefined": "NP_001362737.1:p.Leu504Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721228",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000677752.1:c.1510C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001375808.2:c.1510C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000504857.1:p.Leu504Phe"
          },
          "RefSeq": {
            "hgvs": "NP_001362737.1:p.Leu504Phe"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}