{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA350500109",
  "communityStandardTitle": [
    "NM_014140.4(SMARCAL1):c.1402G>C (p.Ala468Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=931138[alleleid]",
        "alleleId": 931138,
        "preferredName": "NM_014140.4(SMARCAL1):c.1402G>C (p.Ala468Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/940133",
        "RCV": [
          "RCV001209657"
        ],
        "variationId": 940133
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.217297508G>C?assembly=hg19",
        "id": "chr2:g.217297508G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.216432785G>C?assembly=hg38",
        "id": "chr2:g.216432785G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1693994454",
        "rs": 1693994454
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-216432785-G-C?dataset=gnomad_r4",
        "id": "2-216432785-G-C",
        "variant": "2:216432785 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 216432785,
          "referenceAllele": "G",
          "start": 216432784
        }
      ],
      "hgvs": [
        "NC_000002.12:g.216432785G>C",
        "CM000664.2:g.216432785G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 217297508,
          "referenceAllele": "G",
          "start": 217297507
        }
      ],
      "hgvs": [
        "NC_000002.11:g.217297508G>C",
        "CM000664.1:g.217297508G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 217005753,
          "referenceAllele": "G",
          "start": 217005752
        }
      ],
      "hgvs": [
        "NC_000002.10:g.217005753G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 25372,
          "referenceAllele": "G",
          "start": 25371
        }
      ],
      "hgvs": [
        "NG_009771.1:g.25372G>C",
        "LRG_108:g.25372G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001631"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1654,
          "referenceAllele": "G",
          "start": 1653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000425815.6:c.1402G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394410.2:p.Ala468Pro",
        "hgvsWellDefined": "ENSP00000394410.2:p.Ala468Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904799"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1687,
          "referenceAllele": "G",
          "start": 1686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000430374.6:c.1402G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405077.2:p.Ala468Pro",
        "hgvsWellDefined": "ENSP00000405077.2:p.Ala468Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904832"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1722,
          "referenceAllele": "G",
          "start": 1721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000444508.6:c.1402G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398969.2:p.Ala468Pro",
        "hgvsWellDefined": "ENSP00000398969.2:p.Ala468Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904940"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1763,
          "referenceAllele": "G",
          "start": 1762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000697898.1:n.1763G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909056"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1453,
          "referenceAllele": "G",
          "start": 1452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000697899.1:c.1168G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513470.1:p.Ala390Pro",
        "hgvsWellDefined": "ENSP00000513470.1:p.Ala390Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909057"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1610,
          "endIntronDirection": "-",
          "endIntronOffset": 2552,
          "referenceAllele": "G",
          "start": 1610,
          "startIntronDirection": "-",
          "startIntronOffset": 2553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000697900.1:n.1611-2553G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909058"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1640,
          "referenceAllele": "G",
          "start": 1639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000697901.1:c.*260G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513471.1:n.*260G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909059"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1634,
          "referenceAllele": "G",
          "start": 1633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000697902.1:n.1634G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909060"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1566,
          "endIntronDirection": "-",
          "endIntronOffset": 2552,
          "referenceAllele": "G",
          "start": 1566,
          "startIntronDirection": "-",
          "startIntronOffset": 2553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000697903.1:c.1335-2553G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513472.1:n.1335-2553G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909061"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1494,
          "endIntronDirection": "-",
          "endIntronOffset": 2552,
          "referenceAllele": "G",
          "start": 1494,
          "startIntronDirection": "-",
          "startIntronOffset": 2553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000697904.1:c.1335-2553G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513473.1:n.1335-2553G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909062"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1530,
          "endIntronDirection": "-",
          "endIntronOffset": 2552,
          "referenceAllele": "G",
          "start": 1530,
          "startIntronDirection": "-",
          "startIntronOffset": 2553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000697905.1:c.1335-2553G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513474.1:n.1335-2553G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909063"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1312,
          "referenceAllele": "G",
          "start": 1311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000697906.1:c.1168G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513475.1:p.Ala390Pro",
        "hgvsWellDefined": "ENSP00000513475.1:p.Ala390Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909064"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1532,
          "referenceAllele": "G",
          "start": 1531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000697907.1:c.*260G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513476.1:n.*260G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909065"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1199,
          "referenceAllele": "G",
          "start": 1198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000697908.1:n.1199G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909066"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1662,
          "referenceAllele": "G",
          "start": 1661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000357276.9:c.1402G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349823.4:p.Ala468Pro",
        "hgvsWellDefined": "ENSP00000349823.4:p.Ala468Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748922",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357276.9:c.1402G>C"
          },
          "RefSeq": {
            "hgvs": "NM_014140.4:c.1402G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000349823.4:p.Ala468Pro"
          },
          "RefSeq": {
            "hgvs": "NP_054859.2:p.Ala468Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1732,
          "referenceAllele": "G",
          "start": 1731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000357276.8:c.1402G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349823.4:p.Ala468Pro",
        "hgvsWellDefined": "ENSP00000349823.4:p.Ala468Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264043"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1553,
          "referenceAllele": "G",
          "start": 1552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000358207.9:c.1402G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350940.5:p.Ala468Pro",
        "hgvsWellDefined": "ENSP00000350940.5:p.Ala468Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264375"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 994,
          "referenceAllele": "G",
          "start": 993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000392128.6:c.994G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375974.2:p.Ala332Pro",
        "hgvsWellDefined": "ENSP00000375974.2:p.Ala332Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274936"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 75,
          "referenceAllele": "G",
          "start": 74
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000445153.1:c.75G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS298149"
    },
    {
      "@id": "http://reg.genome.network/allele/PA102672",
      "coordinates": [
        {
          "allele": "C",
          "end": 1546,
          "referenceAllele": "G",
          "start": 1545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "NM_001127207.1:c.1402G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120679.1:p.Ala468Pro",
        "hgvsWellDefined": "NP_001120679.1:p.Ala468Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011543"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139736339",
      "coordinates": [
        {
          "allele": "C",
          "end": 1732,
          "referenceAllele": "G",
          "start": 1731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "NM_014140.3:c.1402G>C",
        "LRG_108t1:c.1402G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_054859.2:p.Ala468Pro",
        "hgvsWellDefined": "NP_054859.2:p.Ala468Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032934"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1670,
          "referenceAllele": "G",
          "start": 1669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "XM_005246631.2:c.1402G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246688.1:p.Ala468Pro",
        "hgvsWellDefined": "XP_005246688.1:p.Ala468Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057716"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1722,
          "referenceAllele": "G",
          "start": 1721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "XM_005246632.1:c.1402G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246689.1:p.Ala468Pro",
        "hgvsWellDefined": "XP_005246689.1:p.Ala468Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057717"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1715,
          "referenceAllele": "G",
          "start": 1714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "XM_006712557.1:c.1402G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712620.1:p.Ala468Pro",
        "hgvsWellDefined": "XP_006712620.1:p.Ala468Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069710"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1663,
          "referenceAllele": "G",
          "start": 1662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "XM_005246632.2:c.1402G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246689.1:p.Ala468Pro",
        "hgvsWellDefined": "XP_005246689.1:p.Ala468Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532654"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1524,
          "referenceAllele": "G",
          "start": 1523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "XM_017004228.2:c.490G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859717.1:p.Ala164Pro",
        "hgvsWellDefined": "XP_016859717.1:p.Ala164Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559780"
    },
    {
      "@id": "http://reg.genome.network/allele/PA102672",
      "coordinates": [
        {
          "allele": "C",
          "end": 1531,
          "referenceAllele": "G",
          "start": 1530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "NM_001127207.2:c.1402G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120679.1:p.Ala468Pro",
        "hgvsWellDefined": "NP_001120679.1:p.Ala468Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676852"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139736339",
      "coordinates": [
        {
          "allele": "C",
          "end": 1662,
          "referenceAllele": "G",
          "start": 1661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "NM_014140.4:c.1402G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_054859.2:p.Ala468Pro",
        "hgvsWellDefined": "NP_054859.2:p.Ala468Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697187",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357276.9:c.1402G>C"
          },
          "RefSeq": {
            "hgvs": "NM_014140.4:c.1402G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000349823.4:p.Ala468Pro"
          },
          "RefSeq": {
            "hgvs": "NP_054859.2:p.Ala468Pro"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}