{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16041487",
  "communityStandardTitle": [
    "NM_000543.5(SMPD1):c.1341-1G>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=357994[alleleid]",
        "alleleId": 357994,
        "preferredName": "NM_000543.5(SMPD1):c.1341-1G>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/371672",
        "RCV": [
          "RCV000410844",
          "RCV001249041"
        ],
        "variationId": 371672
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.6415125G>T?assembly=hg19",
        "id": "chr11:g.6415125G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.6393895G>T?assembly=hg38",
        "id": "chr11:g.6393895G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057516854",
        "rs": 1057516854
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-6415125-G-T?dataset=gnomad_r2_1",
        "id": "11-6415125-G-T",
        "variant": "11:6415125 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-6393895-G-T?dataset=gnomad_r4",
        "id": "11-6393895-G-T",
        "variant": "11:6393895 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 6393895,
          "referenceAllele": "G",
          "start": 6393894
        }
      ],
      "hgvs": [
        "NC_000011.10:g.6393895G>T",
        "CM000673.2:g.6393895G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 6415125,
          "referenceAllele": "G",
          "start": 6415124
        }
      ],
      "hgvs": [
        "NC_000011.9:g.6415125G>T",
        "CM000673.1:g.6415125G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 6371701,
          "referenceAllele": "G",
          "start": 6371700
        }
      ],
      "hgvs": [
        "NC_000011.8:g.6371701G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8471,
          "referenceAllele": "G",
          "start": 8470
        }
      ],
      "hgvs": [
        "NG_011780.1:g.8471G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001964"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 30520,
          "referenceAllele": "C",
          "start": 30519
        }
      ],
      "hgvs": [
        "NG_029615.1:g.30520C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004532"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1465,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1465,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "ENST00000342245.9:c.1341-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340409.4:n.1341-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748051",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000342245.9:c.1341-1G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000543.5:c.1341-1G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000340409.4:n.1341-1G>T"
          },
          "RefSeq": {
            "hgvs": "NP_000534.3:n.1341-1G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1508,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1508,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "ENST00000342245.8:c.1341-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340409.4:n.1341-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261512"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 397,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 397,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "ENST00000526280.1:c.398-1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS352172"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1461,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1461,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "ENST00000527275.5:c.1338-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435350.1:n.1338-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS353010"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 704,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 704,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "ENST00000531303.5:c.*172-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432625.1:n.*172-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS356421"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 172,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 172,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "ENST00000531336.1:n.173-1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS356446"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 176,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 176,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "ENST00000532367.1:n.177-1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS357309"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1264,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1264,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "ENST00000533123.5:c.*68-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435950.1:n.*68-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS357940"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1506,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1506,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "ENST00000534405.5:c.*172-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434353.1:n.*172-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1525,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1525,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NM_000543.4:c.1341-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000534.3:n.1341-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006601"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1522,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1522,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NM_001007593.2:c.1338-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001007594.2:n.1338-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007956"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1638,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1638,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "XM_005253075.3:c.1341-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253132.1:n.1341-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060144"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1506,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1506,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "XM_011520303.1:c.1209-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518605.1:n.1209-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087471"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1506,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1506,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "XM_011520304.1:c.1209-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518606.1:n.1209-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087472"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1678,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1678,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "XR_930886.1:n.1679-1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS127013"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1525,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1525,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NM_001318087.1:c.1341-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305016.1:n.1341-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512720"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1565,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1565,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NM_001318088.1:c.420-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305017.1:n.420-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512721"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1333,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1333,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NM_001365135.1:c.1209-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001352064.1:n.1209-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524035"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1353,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1353,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NR_027400.2:n.1354-1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS527197"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 872,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 872,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NR_134502.1:n.873-1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS527622"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1333,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1333,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "XM_011520304.2:c.1209-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518606.1:n.1209-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545676"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1505,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1505,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "XR_001747940.2:n.1506-1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1707,
          "referenceAllele": "G",
          "start": 1706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "XR_002957158.1:n.1707G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS603294"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1465,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1465,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NM_000543.5:c.1341-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000534.3:n.1341-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662482",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000342245.9:c.1341-1G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000543.5:c.1341-1G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000340409.4:n.1341-1G>T"
          },
          "RefSeq": {
            "hgvs": "NP_000534.3:n.1341-1G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1462,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1462,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NM_001007593.3:c.1338-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001007594.2:n.1338-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675298"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1465,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1465,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NM_001318087.2:c.1341-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305016.1:n.1341-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684426"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1505,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1505,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NM_001318088.2:c.420-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305017.1:n.420-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684427"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1333,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1333,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NM_001365135.2:c.1209-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001352064.1:n.1209-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690988"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1293,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1293,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NR_027400.3:n.1294-1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS701945"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 812,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 812,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NR_134502.2:n.813-1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703473"
    }
  ],
  "type": "nucleotide"
}