{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA350500281",
  "communityStandardTitle": [
    "NM_014140.4(SMARCAL1):c.1485+1G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1350240[alleleid]",
        "alleleId": 1350240,
        "preferredName": "NM_014140.4(SMARCAL1):c.1485+1G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1523071",
        "RCV": [
          "RCV002036489"
        ],
        "variationId": 1523071
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.217297592G>A?assembly=hg19",
        "id": "chr2:g.217297592G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.216432869G>A?assembly=hg38",
        "id": "chr2:g.216432869G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/772028268",
        "rs": 772028268
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-217297592-G-A?dataset=gnomad_r2_1",
        "id": "2-217297592-G-A",
        "variant": "2:217297592 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-216432869-G-A?dataset=gnomad_r4",
        "id": "2-216432869-G-A",
        "variant": "2:216432869 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 216432869,
          "referenceAllele": "G",
          "start": 216432868
        }
      ],
      "hgvs": [
        "NC_000002.12:g.216432869G>A",
        "CM000664.2:g.216432869G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 217297592,
          "referenceAllele": "G",
          "start": 217297591
        }
      ],
      "hgvs": [
        "NC_000002.11:g.217297592G>A",
        "CM000664.1:g.217297592G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 217005837,
          "referenceAllele": "G",
          "start": 217005836
        }
      ],
      "hgvs": [
        "NC_000002.10:g.217005837G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 25456,
          "referenceAllele": "G",
          "start": 25455
        }
      ],
      "hgvs": [
        "NG_009771.1:g.25456G>A",
        "LRG_108:g.25456G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001631"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1737,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1737,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000425815.6:c.1485+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394410.2:n.1485+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904799"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1770,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1770,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000430374.6:c.1485+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405077.2:n.1485+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904832"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1805,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1805,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000444508.6:c.1485+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398969.2:n.1485+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904940"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1846,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1846,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000697898.1:n.1846+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909056"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1536,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1536,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000697899.1:c.1251+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513470.1:n.1251+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909057"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1610,
          "endIntronDirection": "-",
          "endIntronOffset": 2468,
          "referenceAllele": "G",
          "start": 1610,
          "startIntronDirection": "-",
          "startIntronOffset": 2469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000697900.1:n.1611-2469G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909058"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1723,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1723,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000697901.1:c.*343+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513471.1:n.*343+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909059"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1717,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1717,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000697902.1:n.1717+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909060"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1566,
          "endIntronDirection": "-",
          "endIntronOffset": 2468,
          "referenceAllele": "G",
          "start": 1566,
          "startIntronDirection": "-",
          "startIntronOffset": 2469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000697903.1:c.1335-2469G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513472.1:n.1335-2469G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909061"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1494,
          "endIntronDirection": "-",
          "endIntronOffset": 2468,
          "referenceAllele": "G",
          "start": 1494,
          "startIntronDirection": "-",
          "startIntronOffset": 2469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000697904.1:c.1335-2469G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513473.1:n.1335-2469G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909062"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1530,
          "endIntronDirection": "-",
          "endIntronOffset": 2468,
          "referenceAllele": "G",
          "start": 1530,
          "startIntronDirection": "-",
          "startIntronOffset": 2469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000697905.1:c.1335-2469G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513474.1:n.1335-2469G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909063"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1395,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1395,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000697906.1:c.1251+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513475.1:n.1251+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909064"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1615,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1615,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000697907.1:c.*343+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513476.1:n.*343+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909065"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1282,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1282,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000697908.1:n.1282+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909066"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1745,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1745,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000357276.9:c.1485+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349823.4:n.1485+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748922",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357276.9:c.1485+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_014140.4:c.1485+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000349823.4:n.1485+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_054859.2:n.1485+1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1815,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1815,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000357276.8:c.1485+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349823.4:n.1485+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264043"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1636,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1636,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000358207.9:c.1485+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350940.5:n.1485+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264375"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1077,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1077,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000392128.6:c.1077+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375974.2:n.1077+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274936"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 158,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 158,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000445153.1:c.158+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS298149"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1629,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1629,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "NM_001127207.1:c.1485+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120679.1:n.1485+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011543"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1815,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1815,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "NM_014140.3:c.1485+1G>A",
        "LRG_108t1:c.1485+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_054859.2:n.1485+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032934"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1753,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1753,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "XM_005246631.2:c.1485+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246688.1:n.1485+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057716"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1805,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1805,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "XM_005246632.1:c.1485+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246689.1:n.1485+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057717"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1798,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1798,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "XM_006712557.1:c.1485+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712620.1:n.1485+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069710"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1746,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1746,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "XM_005246632.2:c.1485+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246689.1:n.1485+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532654"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1607,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1607,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "XM_017004228.2:c.573+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859717.1:n.573+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559780"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1614,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1614,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "NM_001127207.2:c.1485+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120679.1:n.1485+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676852"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1745,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1745,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "NM_014140.4:c.1485+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_054859.2:n.1485+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697187",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357276.9:c.1485+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_014140.4:c.1485+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000349823.4:n.1485+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_054859.2:n.1485+1G>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}