{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1950149406",
  "communityStandardTitle": [
    "NM_000543.5(SMPD1):c.1522G= (p.Gly508=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1050239",
        "rs": 1050239
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 6394233,
          "referenceAllele": "G",
          "start": 6394232
        }
      ],
      "hgvs": [
        "NC_000011.10:g.6394233G=",
        "CM000673.2:g.6394233G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 6415463,
          "referenceAllele": "G",
          "start": 6415462
        }
      ],
      "hgvs": [
        "NC_000011.9:g.6415463G=",
        "CM000673.1:g.6415463G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 6372039,
          "referenceAllele": "G",
          "start": 6372038
        }
      ],
      "hgvs": [
        "NC_000011.8:g.6372039G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8809,
          "referenceAllele": "G",
          "start": 8808
        }
      ],
      "hgvs": [
        "NG_011780.1:g.8809G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001964"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 30182,
          "referenceAllele": "C",
          "start": 30181
        }
      ],
      "hgvs": [
        "NG_029615.1:g.30182C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004532"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1647,
          "referenceAllele": "G",
          "start": 1646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "ENST00000342245.9:c.1522G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340409.4:p.Gly508="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748051",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000342245.9:c.1522G="
          },
          "RefSeq": {
            "hgvs": "NM_000543.5:c.1522G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000340409.4:p.Gly508="
          },
          "RefSeq": {
            "hgvs": "NP_000534.3:p.Gly508="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1690,
          "referenceAllele": "G",
          "start": 1689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "ENST00000342245.8:c.1522G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340409.4:p.Gly508="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261512"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 579,
          "referenceAllele": "G",
          "start": 578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "ENST00000526280.1:c.579G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS352172"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1643,
          "referenceAllele": "G",
          "start": 1642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "ENST00000527275.5:c.1519G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435350.1:p.Gly507="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS353010"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 906,
          "referenceAllele": "G",
          "start": 905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "ENST00000531303.5:c.*373G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432625.1:n.*373G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS356421"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 510,
          "referenceAllele": "G",
          "start": 509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "ENST00000531336.1:n.510G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS356446"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1446,
          "referenceAllele": "G",
          "start": 1445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "ENST00000533123.5:c.*249G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435950.1:n.*249G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS357940"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1688,
          "referenceAllele": "G",
          "start": 1687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "ENST00000534405.5:c.*353G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434353.1:n.*353G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359023"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825206152",
      "coordinates": [
        {
          "allele": "G",
          "end": 1707,
          "referenceAllele": "G",
          "start": 1706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NM_000543.4:c.1522G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000534.3:p.Gly508="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006601"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825288706",
      "coordinates": [
        {
          "allele": "G",
          "end": 1704,
          "referenceAllele": "G",
          "start": 1703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NM_001007593.2:c.1519G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001007594.2:p.Gly507="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007956"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1840,
          "referenceAllele": "G",
          "start": 1839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "XM_005253075.3:c.*15G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005253132.1:n.*15G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060144"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1688,
          "referenceAllele": "G",
          "start": 1687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "XM_011520303.1:c.1390G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011518605.1:p.Gly464="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087471"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1708,
          "referenceAllele": "G",
          "start": 1707
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "XM_011520304.1:c.*15G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011518606.1:n.*15G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087472"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1727,
          "referenceAllele": "G",
          "start": 1726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NM_001318087.1:c.*15G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001305016.1:n.*15G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512720"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826979106",
      "coordinates": [
        {
          "allele": "G",
          "end": 1747,
          "referenceAllele": "G",
          "start": 1746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NM_001318088.1:c.601G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001305017.1:p.Gly201="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512721"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828169588",
      "coordinates": [
        {
          "allele": "G",
          "end": 1515,
          "referenceAllele": "G",
          "start": 1514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NM_001365135.1:c.1390G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001352064.1:p.Gly464="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524035"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1535,
          "referenceAllele": "G",
          "start": 1534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NR_027400.2:n.1535G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS527197"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1074,
          "referenceAllele": "G",
          "start": 1073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NR_134502.1:n.1074G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS527622"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1535,
          "referenceAllele": "G",
          "start": 1534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "XM_011520304.2:c.*15G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011518606.1:n.*15G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545676"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1707,
          "referenceAllele": "G",
          "start": 1706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "XR_001747940.2:n.1707G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596017"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1889,
          "referenceAllele": "G",
          "start": 1888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "XR_002957158.1:n.1889G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS603294"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825206152",
      "coordinates": [
        {
          "allele": "G",
          "end": 1647,
          "referenceAllele": "G",
          "start": 1646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NM_000543.5:c.1522G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000534.3:p.Gly508="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662482",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000342245.9:c.1522G="
          },
          "RefSeq": {
            "hgvs": "NM_000543.5:c.1522G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000340409.4:p.Gly508="
          },
          "RefSeq": {
            "hgvs": "NP_000534.3:p.Gly508="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825288706",
      "coordinates": [
        {
          "allele": "G",
          "end": 1644,
          "referenceAllele": "G",
          "start": 1643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NM_001007593.3:c.1519G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001007594.2:p.Gly507="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675298"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1667,
          "referenceAllele": "G",
          "start": 1666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NM_001318087.2:c.*15G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001305016.1:n.*15G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684426"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826979106",
      "coordinates": [
        {
          "allele": "G",
          "end": 1687,
          "referenceAllele": "G",
          "start": 1686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NM_001318088.2:c.601G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001305017.1:p.Gly201="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684427"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828169588",
      "coordinates": [
        {
          "allele": "G",
          "end": 1515,
          "referenceAllele": "G",
          "start": 1514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NM_001365135.2:c.1390G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001352064.1:p.Gly464="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690988"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1475,
          "referenceAllele": "G",
          "start": 1474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NR_027400.3:n.1475G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS701945"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1014,
          "referenceAllele": "G",
          "start": 1013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NR_134502.2:n.1014G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703473"
    }
  ],
  "type": "nucleotide"
}