{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA492077252",
  "communityStandardTitle": [
    "NM_000326.5(RLBP1):c.393G>T (p.Leu131=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2178085[alleleid]",
        "alleleId": 2178085,
        "preferredName": "NM_000326.5(RLBP1):c.393G>T (p.Leu131=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2126772",
        "RCV": [
          "RCV003047454"
        ],
        "variationId": 2126772
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.89758423C>A?assembly=hg19",
        "id": "chr15:g.89758423C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2051569692",
        "rs": 2051569692
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-89215192-C-A?dataset=gnomad_r4",
        "id": "15-89215192-C-A",
        "variant": "15:89215192 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 89215192,
          "referenceAllele": "C",
          "start": 89215191
        }
      ],
      "hgvs": [
        "NC_000015.10:g.89215192C>A",
        "CM000677.2:g.89215192C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 89758423,
          "referenceAllele": "C",
          "start": 89758422
        }
      ],
      "hgvs": [
        "NC_000015.9:g.89758423C>A",
        "CM000677.1:g.89758423C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 87559427,
          "referenceAllele": "C",
          "start": 87559426
        }
      ],
      "hgvs": [
        "NC_000015.8:g.87559427C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11500,
          "referenceAllele": "G",
          "start": 11499
        }
      ],
      "hgvs": [
        "NG_008116.1:g.11500G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000861"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 661,
          "referenceAllele": "G",
          "start": 660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010024",
      "geneNCBI_id": 6017,
      "geneSymbol": "RLBP1",
      "hgvs": [
        "ENST00000268125.10:c.393G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268125.5:p.Leu131="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743030",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268125.10:c.393G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000326.5:c.393G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268125.5:p.Leu131="
          },
          "RefSeq": {
            "hgvs": "NP_000317.1:p.Leu131="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 833,
          "referenceAllele": "G",
          "start": 832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010024",
      "geneNCBI_id": 6017,
      "geneSymbol": "RLBP1",
      "hgvs": [
        "ENST00000268125.9:c.393G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268125.5:p.Leu131="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252052"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 431,
          "referenceAllele": "G",
          "start": 430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010024",
      "geneNCBI_id": 6017,
      "geneSymbol": "RLBP1",
      "hgvs": [
        "ENST00000567787.1:c.187G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457251.1:p.Val63Phe",
        "hgvsWellDefined": "ENSP00000457251.1:p.Val63Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380347"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825123577",
      "coordinates": [
        {
          "allele": "T",
          "end": 773,
          "referenceAllele": "G",
          "start": 772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010024",
      "geneNCBI_id": 6017,
      "geneSymbol": "RLBP1",
      "hgvs": [
        "NM_000326.4:c.393G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000317.1:p.Leu131="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006389"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 932,
          "referenceAllele": "G",
          "start": 931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010024",
      "geneNCBI_id": 6017,
      "geneSymbol": "RLBP1",
      "hgvs": [
        "XM_011521870.1:c.393G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520172.1:p.Leu131="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089029"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 518,
          "referenceAllele": "G",
          "start": 517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010024",
      "geneNCBI_id": 6017,
      "geneSymbol": "RLBP1",
      "hgvs": [
        "XM_011521871.1:c.318G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520173.1:p.Leu106="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089030"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 558,
          "referenceAllele": "G",
          "start": 557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010024",
      "geneNCBI_id": 6017,
      "geneSymbol": "RLBP1",
      "hgvs": [
        "XM_011521872.1:c.318G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520174.1:p.Leu106="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089031"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2202,
          "referenceAllele": "G",
          "start": 2201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010024",
      "geneNCBI_id": 6017,
      "geneSymbol": "RLBP1",
      "hgvs": [
        "XM_011521870.2:c.393G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520172.1:p.Leu131="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546356"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 612,
          "referenceAllele": "G",
          "start": 611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010024",
      "geneNCBI_id": 6017,
      "geneSymbol": "RLBP1",
      "hgvs": [
        "XM_017022460.1:c.420G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877949.1:p.Leu140="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573427"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825123577",
      "coordinates": [
        {
          "allele": "T",
          "end": 661,
          "referenceAllele": "G",
          "start": 660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010024",
      "geneNCBI_id": 6017,
      "geneSymbol": "RLBP1",
      "hgvs": [
        "NM_000326.5:c.393G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000317.1:p.Leu131="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662404",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268125.10:c.393G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000326.5:c.393G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268125.5:p.Leu131="
          },
          "RefSeq": {
            "hgvs": "NP_000317.1:p.Leu131="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}