{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1248601065",
  "communityStandardTitle": [
    "NM_000233.4(LHCGR):c.1505T= (p.Leu502=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121912538",
        "rs": 121912538
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 48688292,
          "referenceAllele": "A",
          "start": 48688291
        }
      ],
      "hgvs": [
        "NC_000002.12:g.48688292A=",
        "CM000664.2:g.48688292A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 48915431,
          "referenceAllele": "A",
          "start": 48915430
        }
      ],
      "hgvs": [
        "NC_000002.11:g.48915431A=",
        "CM000664.1:g.48915431A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 48768935,
          "referenceAllele": "A",
          "start": 48768934
        }
      ],
      "hgvs": [
        "NC_000002.10:g.48768935A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 72450,
          "referenceAllele": "T",
          "start": 72449
        }
      ],
      "hgvs": [
        "NG_008193.1:g.72450T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000935"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 163368,
          "referenceAllele": "A",
          "start": 163367
        }
      ],
      "hgvs": [
        "NG_033050.1:g.163368A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005382"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 72450,
          "referenceAllele": "T",
          "start": 72449
        }
      ],
      "hgvs": [
        "NG_008193.2:g.72450T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673493"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 163368,
          "referenceAllele": "A",
          "start": 163367
        }
      ],
      "hgvs": [
        "NG_033050.2:g.163368A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673879"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1558,
          "referenceAllele": "T",
          "start": 1557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "ENST00000294954.12:c.1505T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000294954.6:p.Leu502="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744242",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000294954.12:c.1505T="
          },
          "RefSeq": {
            "hgvs": "NM_000233.4:c.1505T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000294954.6:p.Leu502="
          },
          "RefSeq": {
            "hgvs": "NP_000224.2:p.Leu502="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1527,
          "referenceAllele": "T",
          "start": 1526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "ENST00000294954.11:c.1505T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000294954.6:p.Leu502="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254018"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1006,
          "endIntronDirection": "-",
          "endIntronOffset": 152,
          "referenceAllele": "T",
          "start": 1006,
          "startIntronDirection": "-",
          "startIntronOffset": 153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "ENST00000401907.5:c.948-153T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385406.1:n.948-153T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279355"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3552,
          "endIntronDirection": "+",
          "endIntronOffset": 16612,
          "referenceAllele": "A",
          "start": 3552,
          "startIntronDirection": "+",
          "startIntronOffset": 16611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030651",
      "geneNCBI_id": 286749,
      "geneSymbol": "STON1-GTF2A1L",
      "hgvs": [
        "ENST00000402114.6:c.3441+16612A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385701.1:n.3441+16612A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279412"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1298,
          "referenceAllele": "T",
          "start": 1297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "ENST00000403273.5:c.*249T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385847.1:n.*249T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279759"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1424,
          "referenceAllele": "T",
          "start": 1423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "ENST00000405626.5:c.1424T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386033.1:p.Leu475="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280400"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 276,
          "endIntronDirection": "+",
          "endIntronOffset": 16612,
          "referenceAllele": "A",
          "start": 276,
          "startIntronDirection": "+",
          "startIntronOffset": 16611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030727",
      "geneNCBI_id": 11036,
      "geneSymbol": "GTF2A1L",
      "hgvs": [
        "ENST00000508440.1:c.276+16612A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421474.1:n.276+16612A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339460"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 900,
          "endIntronDirection": "+",
          "endIntronOffset": 5932,
          "referenceAllele": "T",
          "start": 900,
          "startIntronDirection": "+",
          "startIntronOffset": 5931
        }
      ],
      "hgvs": [
        "ENST00000602369.3:c.*220+5932T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000473498.1:n.*220+5932T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS398164"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3066526516",
      "coordinates": [
        {
          "allele": "T",
          "end": 1575,
          "referenceAllele": "T",
          "start": 1574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "NM_000233.3:c.1505T="
      ],
      "proteinEffect": {
        "hgvs": "NP_000224.2:p.Leu502="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006296"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3552,
          "endIntronDirection": "+",
          "endIntronOffset": 16612,
          "referenceAllele": "A",
          "start": 3552,
          "startIntronDirection": "+",
          "startIntronOffset": 16611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030651",
      "geneNCBI_id": 286749,
      "geneSymbol": "STON1-GTF2A1L",
      "hgvs": [
        "NM_001198593.1:c.3441+16612A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001185522.1:n.3441+16612A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016784"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 622,
          "referenceAllele": "T",
          "start": 621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "XM_005264309.2:c.548T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005264366.1:p.Leu183="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064163"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1527,
          "referenceAllele": "T",
          "start": 1526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "XM_006712015.2:c.575T="
      ],
      "proteinEffect": {
        "hgvs": "XP_006712078.1:p.Leu192="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069417"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1483,
          "referenceAllele": "T",
          "start": 1482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "XM_011532828.1:c.1430T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531130.1:p.Leu477="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099854"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1297,
          "referenceAllele": "T",
          "start": 1296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "XM_011532829.1:c.1244T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531131.1:p.Leu415="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099855"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1216,
          "referenceAllele": "T",
          "start": 1215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "XM_011532830.1:c.1163T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531132.1:p.Leu388="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099856"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1206,
          "referenceAllele": "T",
          "start": 1205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "XM_011532831.1:c.869T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531133.1:p.Leu290="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099857"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1094,
          "referenceAllele": "T",
          "start": 1093
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "XM_011532832.1:c.575T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531134.1:p.Leu192="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099858"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1090,
          "referenceAllele": "T",
          "start": 1089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "XM_011532833.1:c.575T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531135.1:p.Leu192="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099859"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 869,
          "referenceAllele": "T",
          "start": 868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "XM_011532834.1:c.548T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531136.1:p.Leu183="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099860"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1301,
          "referenceAllele": "T",
          "start": 1300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "XM_005264309.3:c.548T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005264366.1:p.Leu183="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535838"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1531,
          "referenceAllele": "T",
          "start": 1530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "XM_006712015.3:c.575T="
      ],
      "proteinEffect": {
        "hgvs": "XP_006712078.1:p.Leu192="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538145"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 873,
          "referenceAllele": "T",
          "start": 872
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "XM_011532834.2:c.548T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531136.1:p.Leu183="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550984"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3077,
          "referenceAllele": "T",
          "start": 3076
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "XM_017004089.1:c.1250T="
      ],
      "proteinEffect": {
        "hgvs": "XP_016859578.1:p.Leu417="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559685"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1350,
          "referenceAllele": "T",
          "start": 1349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "XM_017004090.1:c.869T="
      ],
      "proteinEffect": {
        "hgvs": "XP_016859579.1:p.Leu290="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559686"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3066526516",
      "coordinates": [
        {
          "allele": "T",
          "end": 1558,
          "referenceAllele": "T",
          "start": 1557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006585",
      "geneNCBI_id": 3973,
      "geneSymbol": "LHCGR",
      "hgvs": [
        "NM_000233.4:c.1505T="
      ],
      "proteinEffect": {
        "hgvs": "NP_000224.2:p.Leu502="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662366",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000294954.12:c.1505T="
          },
          "RefSeq": {
            "hgvs": "NM_000233.4:c.1505T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000294954.6:p.Leu502="
          },
          "RefSeq": {
            "hgvs": "NP_000224.2:p.Leu502="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3552,
          "endIntronDirection": "+",
          "endIntronOffset": 16612,
          "referenceAllele": "A",
          "start": 3552,
          "startIntronDirection": "+",
          "startIntronOffset": 16611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030651",
      "geneNCBI_id": 286749,
      "geneSymbol": "STON1-GTF2A1L",
      "hgvs": [
        "NM_001198593.2:c.3441+16612A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001185522.1:n.3441+16612A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713875"
    }
  ],
  "type": "nucleotide"
}