{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA223722",
  "communityStandardTitle": [
    "NM_022464.5(SIL1):c.1312C>T (p.Gln438Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=17666[alleleid]",
        "alleleId": 17666,
        "preferredName": "NM_022464.5(SIL1):c.1312C>T (p.Gln438Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2627",
        "RCV": [
          "RCV000002745",
          "RCV000082150"
        ],
        "variationId": 2627
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.138282880G>A?assembly=hg19",
        "id": "chr5:g.138282880G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.138947191G>A?assembly=hg38",
        "id": "chr5:g.138947191G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/119456966",
        "rs": 119456966
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-138947191-G-A?dataset=gnomad_r4",
        "id": "5-138947191-G-A",
        "variant": "5:138947191 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 138947191,
          "referenceAllele": "G",
          "start": 138947190
        }
      ],
      "hgvs": [
        "NC_000005.10:g.138947191G>A",
        "CM000667.2:g.138947191G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 138282880,
          "referenceAllele": "G",
          "start": 138282879
        }
      ],
      "hgvs": [
        "NC_000005.9:g.138282880G>A",
        "CM000667.1:g.138282880G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 138310779,
          "referenceAllele": "G",
          "start": 138310778
        }
      ],
      "hgvs": [
        "NC_000005.8:g.138310779G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 256186,
          "referenceAllele": "C",
          "start": 256185
        }
      ],
      "hgvs": [
        "NG_008112.1:g.256186C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000857"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 256186,
          "referenceAllele": "C",
          "start": 256185
        }
      ],
      "hgvs": [
        "NG_008112.2:g.256186C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673487"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1422,
          "referenceAllele": "C",
          "start": 1421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024624",
      "geneNCBI_id": 64374,
      "geneSymbol": "SIL1",
      "hgvs": [
        "ENST00000394817.7:c.1312C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378294.2:p.Gln438Ter",
        "hgvsWellDefined": "ENSP00000378294.2:p.Gln438_Arg461delinsAspGlyGluAspGluGlyTyrPheGlnGluLeuLeuGlySerValAsnSerLeuLeuLysGluLeuArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753314",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000394817.7:c.1312C>T"
          },
          "RefSeq": {
            "hgvs": "NM_022464.5:c.1312C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000378294.2:p.Gln438Ter"
          },
          "RefSeq": {
            "hgvs": "NP_071909.1:p.Gln438Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1458,
          "referenceAllele": "C",
          "start": 1457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024624",
      "geneNCBI_id": 64374,
      "geneSymbol": "SIL1",
      "hgvs": [
        "ENST00000265195.9:c.1312C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265195.5:p.Gln438Ter",
        "hgvsWellDefined": "ENSP00000265195.5:p.Gln438_Arg461delinsAspGlyGluAspGluGlyTyrPheGlnGluLeuLeuGlySerValAsnSerLeuLeuLysGluLeuArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251695"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1452,
          "referenceAllele": "C",
          "start": 1451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024624",
      "geneNCBI_id": 64374,
      "geneSymbol": "SIL1",
      "hgvs": [
        "ENST00000394817.6:c.1312C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378294.2:p.Gln438Ter",
        "hgvsWellDefined": "ENSP00000378294.2:p.Gln438_Arg461delinsAspGlyGluAspGluGlyTyrPheGlnGluLeuLeuGlySerValAsnSerLeuLeuLysGluLeuArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276358"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1546,
          "referenceAllele": "C",
          "start": 1545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024624",
      "geneNCBI_id": 64374,
      "geneSymbol": "SIL1",
      "hgvs": [
        "ENST00000509534.5:c.1333C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426858.1:p.Gln445Ter",
        "hgvsWellDefined": "ENSP00000426858.1:p.Gln445_Arg468delinsAspGlyGluAspGluGlyTyrPheGlnGluLeuLeuGlySerValAsnSerLeuLeuLysGluLeuArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS340273"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 647,
          "referenceAllele": "C",
          "start": 646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024624",
      "geneNCBI_id": 64374,
      "geneSymbol": "SIL1",
      "hgvs": [
        "ENST00000515008.1:n.647C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS344352"
    },
    {
      "@id": "http://reg.genome.network/allele/PA223724",
      "coordinates": [
        {
          "allele": "T",
          "end": 1518,
          "referenceAllele": "C",
          "start": 1517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024624",
      "geneNCBI_id": 64374,
      "geneSymbol": "SIL1",
      "hgvs": [
        "NM_001037633.1:c.1312C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001032722.1:p.Gln438Ter",
        "hgvsWellDefined": "NP_001032722.1:p.Gln438_Arg461delinsAspGlyGluAspGluGlyTyrPheGlnGluLeuLeuGlySerValAsnSerLeuLeuLysGluLeuArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009286"
    },
    {
      "@id": "http://reg.genome.network/allele/PA223723",
      "coordinates": [
        {
          "allele": "T",
          "end": 1430,
          "referenceAllele": "C",
          "start": 1429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024624",
      "geneNCBI_id": 64374,
      "geneSymbol": "SIL1",
      "hgvs": [
        "NM_022464.4:c.1312C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_071909.1:p.Gln438Ter",
        "hgvsWellDefined": "NP_071909.1:p.Gln438_Arg461delinsAspGlyGluAspGluGlyTyrPheGlnGluLeuLeuGlySerValAsnSerLeuLeuLysGluLeuArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037329"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1555,
          "referenceAllele": "C",
          "start": 1554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024624",
      "geneNCBI_id": 64374,
      "geneSymbol": "SIL1",
      "hgvs": [
        "XM_011543570.1:c.1342C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541872.1:p.Gln448Ter",
        "hgvsWellDefined": "XP_011541872.1:p.Gln448_Arg471delinsAspGlyGluAspGluGlyTyrPheGlnGluLeuLeuGlySerValAsnSerLeuLeuLysGluLeuArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110488"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1555,
          "referenceAllele": "C",
          "start": 1554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024624",
      "geneNCBI_id": 64374,
      "geneSymbol": "SIL1",
      "hgvs": [
        "XM_011543570.2:c.1342C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541872.1:p.Gln448Ter",
        "hgvsWellDefined": "XP_011541872.1:p.Gln448_Arg471delinsAspGlyGluAspGluGlyTyrPheGlnGluLeuLeuGlySerValAsnSerLeuLeuLysGluLeuArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555282"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1455,
          "referenceAllele": "C",
          "start": 1454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024624",
      "geneNCBI_id": 64374,
      "geneSymbol": "SIL1",
      "hgvs": [
        "XM_024446164.1:c.1312C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301932.1:p.Gln438Ter",
        "hgvsWellDefined": "XP_024301932.1:p.Gln438_Arg461delinsAspGlyGluAspGluGlyTyrPheGlnGluLeuLeuGlySerValAsnSerLeuLeuLysGluLeuArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579838"
    },
    {
      "@id": "http://reg.genome.network/allele/PA223723",
      "coordinates": [
        {
          "allele": "T",
          "end": 1422,
          "referenceAllele": "C",
          "start": 1421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024624",
      "geneNCBI_id": 64374,
      "geneSymbol": "SIL1",
      "hgvs": [
        "NM_022464.5:c.1312C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_071909.1:p.Gln438Ter",
        "hgvsWellDefined": "NP_071909.1:p.Gln438_Arg461delinsAspGlyGluAspGluGlyTyrPheGlnGluLeuLeuGlySerValAsnSerLeuLeuLysGluLeuArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670446",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000394817.7:c.1312C>T"
          },
          "RefSeq": {
            "hgvs": "NM_022464.5:c.1312C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000378294.2:p.Gln438Ter"
          },
          "RefSeq": {
            "hgvs": "NP_071909.1:p.Gln438Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA223724",
      "coordinates": [
        {
          "allele": "T",
          "end": 1510,
          "referenceAllele": "C",
          "start": 1509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024624",
      "geneNCBI_id": 64374,
      "geneSymbol": "SIL1",
      "hgvs": [
        "NM_001037633.2:c.1312C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001032722.1:p.Gln438Ter",
        "hgvsWellDefined": "NP_001032722.1:p.Gln438_Arg461delinsAspGlyGluAspGluGlyTyrPheGlnGluLeuLeuGlySerValAsnSerLeuLeuLysGluLeuArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675860"
    }
  ],
  "type": "nucleotide"
}