{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1950149923",
  "communityStandardTitle": [
    "NM_000543.5(SMPD1):c.1735G= (p.Gly579=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/120074119",
        "rs": 120074119
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 6394446,
          "referenceAllele": "G",
          "start": 6394445
        }
      ],
      "hgvs": [
        "NC_000011.10:g.6394446G=",
        "CM000673.2:g.6394446G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 6415676,
          "referenceAllele": "G",
          "start": 6415675
        }
      ],
      "hgvs": [
        "NC_000011.9:g.6415676G=",
        "CM000673.1:g.6415676G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 6372252,
          "referenceAllele": "G",
          "start": 6372251
        }
      ],
      "hgvs": [
        "NC_000011.8:g.6372252G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9022,
          "referenceAllele": "G",
          "start": 9021
        }
      ],
      "hgvs": [
        "NG_011780.1:g.9022G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001964"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 29969,
          "referenceAllele": "C",
          "start": 29968
        }
      ],
      "hgvs": [
        "NG_029615.1:g.29969C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004532"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1860,
          "referenceAllele": "G",
          "start": 1859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "ENST00000342245.9:c.1735G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340409.4:p.Gly579="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748051",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000342245.9:c.1735G="
          },
          "RefSeq": {
            "hgvs": "NM_000543.5:c.1735G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000340409.4:p.Gly579="
          },
          "RefSeq": {
            "hgvs": "NP_000534.3:p.Gly579="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1903,
          "referenceAllele": "G",
          "start": 1902
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "ENST00000342245.8:c.1735G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340409.4:p.Gly579="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261512"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 792,
          "referenceAllele": "G",
          "start": 791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "ENST00000526280.1:c.792G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS352172"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1856,
          "referenceAllele": "G",
          "start": 1855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "ENST00000527275.5:c.1732G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435350.1:p.Gly578="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS353010"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1119,
          "referenceAllele": "G",
          "start": 1118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "ENST00000531303.5:c.*586G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432625.1:n.*586G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS356421"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1659,
          "referenceAllele": "G",
          "start": 1658
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "ENST00000533123.5:c.*462G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435950.1:n.*462G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS357940"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1901,
          "referenceAllele": "G",
          "start": 1900
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "ENST00000534405.5:c.*566G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434353.1:n.*566G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359023"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3077715475",
      "coordinates": [
        {
          "allele": "G",
          "end": 1920,
          "referenceAllele": "G",
          "start": 1919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NM_000543.4:c.1735G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000534.3:p.Gly579="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006601"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1917,
          "referenceAllele": "G",
          "start": 1916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NM_001007593.2:c.1732G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001007594.2:p.Gly578="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007956"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2053,
          "referenceAllele": "G",
          "start": 2052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "XM_005253075.3:c.*228G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005253132.1:n.*228G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060144"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1901,
          "referenceAllele": "G",
          "start": 1900
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "XM_011520303.1:c.1603G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011518605.1:p.Gly535="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087471"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1921,
          "referenceAllele": "G",
          "start": 1920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "XM_011520304.1:c.*228G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011518606.1:n.*228G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087472"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1940,
          "referenceAllele": "G",
          "start": 1939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NM_001318087.1:c.*228G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001305016.1:n.*228G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512720"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1960,
          "referenceAllele": "G",
          "start": 1959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NM_001318088.1:c.814G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001305017.1:p.Gly272="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512721"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1728,
          "referenceAllele": "G",
          "start": 1727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NM_001365135.1:c.1603G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001352064.1:p.Gly535="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524035"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1748,
          "referenceAllele": "G",
          "start": 1747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NR_027400.2:n.1748G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS527197"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1287,
          "referenceAllele": "G",
          "start": 1286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NR_134502.1:n.1287G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS527622"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1748,
          "referenceAllele": "G",
          "start": 1747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "XM_011520304.2:c.*228G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011518606.1:n.*228G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545676"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1920,
          "referenceAllele": "G",
          "start": 1919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "XR_001747940.2:n.1920G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596017"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2102,
          "referenceAllele": "G",
          "start": 2101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "XR_002957158.1:n.2102G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS603294"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3077715475",
      "coordinates": [
        {
          "allele": "G",
          "end": 1860,
          "referenceAllele": "G",
          "start": 1859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NM_000543.5:c.1735G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000534.3:p.Gly579="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662482",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000342245.9:c.1735G="
          },
          "RefSeq": {
            "hgvs": "NM_000543.5:c.1735G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000340409.4:p.Gly579="
          },
          "RefSeq": {
            "hgvs": "NP_000534.3:p.Gly579="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1857,
          "referenceAllele": "G",
          "start": 1856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NM_001007593.3:c.1732G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001007594.2:p.Gly578="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675298"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1880,
          "referenceAllele": "G",
          "start": 1879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NM_001318087.2:c.*228G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001305016.1:n.*228G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684426"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1900,
          "referenceAllele": "G",
          "start": 1899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NM_001318088.2:c.814G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001305017.1:p.Gly272="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684427"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1728,
          "referenceAllele": "G",
          "start": 1727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NM_001365135.2:c.1603G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001352064.1:p.Gly535="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690988"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1688,
          "referenceAllele": "G",
          "start": 1687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NR_027400.3:n.1688G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS701945"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1227,
          "referenceAllele": "G",
          "start": 1226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NR_134502.2:n.1227G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703473"
    }
  ],
  "type": "nucleotide"
}