{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA472909920",
  "communityStandardTitle": [
    "NM_000543.5(SMPD1):c.1327C>A (p.Arg443=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3093706[alleleid]",
        "alleleId": 3093706,
        "preferredName": "NM_000543.5(SMPD1):c.1327C>A (p.Arg443=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2928084",
        "RCV": [
          "RCV003786906"
        ],
        "variationId": 2928084
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.6414910C>A?assembly=hg19",
        "id": "chr11:g.6414910C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/120074127",
        "rs": 120074127
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 6393680,
          "referenceAllele": "C",
          "start": 6393679
        }
      ],
      "hgvs": [
        "NC_000011.10:g.6393680C>A",
        "CM000673.2:g.6393680C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 6414910,
          "referenceAllele": "C",
          "start": 6414909
        }
      ],
      "hgvs": [
        "NC_000011.9:g.6414910C>A",
        "CM000673.1:g.6414910C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 6371486,
          "referenceAllele": "C",
          "start": 6371485
        }
      ],
      "hgvs": [
        "NC_000011.8:g.6371486C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8256,
          "referenceAllele": "C",
          "start": 8255
        }
      ],
      "hgvs": [
        "NG_011780.1:g.8256C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001964"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 30735,
          "referenceAllele": "G",
          "start": 30734
        }
      ],
      "hgvs": [
        "NG_029615.1:g.30735G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004532"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1452,
          "referenceAllele": "C",
          "start": 1451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "ENST00000342245.9:c.1327C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340409.4:p.Arg443="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748051",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000342245.9:c.1327C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000543.5:c.1327C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000340409.4:p.Arg443="
          },
          "RefSeq": {
            "hgvs": "NP_000534.3:p.Arg443="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1495,
          "referenceAllele": "C",
          "start": 1494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "ENST00000342245.8:c.1327C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340409.4:p.Arg443="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261512"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 384,
          "referenceAllele": "C",
          "start": 383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "ENST00000526280.1:c.384C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS352172"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1448,
          "referenceAllele": "C",
          "start": 1447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "ENST00000527275.5:c.1324C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435350.1:p.Arg442="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS353010"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 691,
          "referenceAllele": "C",
          "start": 690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "ENST00000531303.5:c.*158C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432625.1:n.*158C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS356421"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 159,
          "referenceAllele": "C",
          "start": 158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "ENST00000531336.1:n.159C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS356446"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 163,
          "referenceAllele": "C",
          "start": 162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "ENST00000532367.1:n.163C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS357309"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1251,
          "referenceAllele": "C",
          "start": 1250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "ENST00000533123.5:c.*54C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435950.1:n.*54C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS357940"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1493,
          "referenceAllele": "C",
          "start": 1492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "ENST00000534405.5:c.*158C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434353.1:n.*158C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359023"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825206080",
      "coordinates": [
        {
          "allele": "A",
          "end": 1512,
          "referenceAllele": "C",
          "start": 1511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NM_000543.4:c.1327C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000534.3:p.Arg443="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006601"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825288625",
      "coordinates": [
        {
          "allele": "A",
          "end": 1509,
          "referenceAllele": "C",
          "start": 1508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NM_001007593.2:c.1324C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001007594.2:p.Arg442="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007956"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1625,
          "referenceAllele": "C",
          "start": 1624
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "XM_005253075.3:c.1327C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253132.1:p.Arg443="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060144"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1493,
          "referenceAllele": "C",
          "start": 1492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "XM_011520303.1:c.1195C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518605.1:p.Arg399="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087471"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1493,
          "referenceAllele": "C",
          "start": 1492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "XM_011520304.1:c.1195C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518606.1:p.Arg399="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087472"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1665,
          "referenceAllele": "C",
          "start": 1664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "XR_930886.1:n.1665C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS127013"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826978908",
      "coordinates": [
        {
          "allele": "A",
          "end": 1512,
          "referenceAllele": "C",
          "start": 1511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NM_001318087.1:c.1327C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305016.1:p.Arg443="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512720"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826979024",
      "coordinates": [
        {
          "allele": "A",
          "end": 1552,
          "referenceAllele": "C",
          "start": 1551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NM_001318088.1:c.406C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305017.1:p.Arg136="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512721"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828169399",
      "coordinates": [
        {
          "allele": "A",
          "end": 1320,
          "referenceAllele": "C",
          "start": 1319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NM_001365135.1:c.1195C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001352064.1:p.Arg399="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524035"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1340,
          "referenceAllele": "C",
          "start": 1339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NR_027400.2:n.1340C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS527197"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 859,
          "referenceAllele": "C",
          "start": 858
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NR_134502.1:n.859C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS527622"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1320,
          "referenceAllele": "C",
          "start": 1319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "XM_011520304.2:c.1195C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518606.1:p.Arg399="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545676"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1492,
          "referenceAllele": "C",
          "start": 1491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "XR_001747940.2:n.1492C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1492,
          "referenceAllele": "C",
          "start": 1491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "XR_002957158.1:n.1492C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS603294"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825206080",
      "coordinates": [
        {
          "allele": "A",
          "end": 1452,
          "referenceAllele": "C",
          "start": 1451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NM_000543.5:c.1327C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000534.3:p.Arg443="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662482",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000342245.9:c.1327C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000543.5:c.1327C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000340409.4:p.Arg443="
          },
          "RefSeq": {
            "hgvs": "NP_000534.3:p.Arg443="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825288625",
      "coordinates": [
        {
          "allele": "A",
          "end": 1449,
          "referenceAllele": "C",
          "start": 1448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NM_001007593.3:c.1324C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001007594.2:p.Arg442="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675298"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826978908",
      "coordinates": [
        {
          "allele": "A",
          "end": 1452,
          "referenceAllele": "C",
          "start": 1451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NM_001318087.2:c.1327C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305016.1:p.Arg443="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684426"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826979024",
      "coordinates": [
        {
          "allele": "A",
          "end": 1492,
          "referenceAllele": "C",
          "start": 1491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NM_001318088.2:c.406C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305017.1:p.Arg136="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684427"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828169399",
      "coordinates": [
        {
          "allele": "A",
          "end": 1320,
          "referenceAllele": "C",
          "start": 1319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NM_001365135.2:c.1195C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001352064.1:p.Arg399="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690988"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1280,
          "referenceAllele": "C",
          "start": 1279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NR_027400.3:n.1280C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS701945"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 799,
          "referenceAllele": "C",
          "start": 798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NR_134502.2:n.799C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703473"
    }
  ],
  "type": "nucleotide"
}