{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3478844",
  "communityStandardTitle": [
    "NM_005219.5(DIAPH1):c.3175C>G (p.Leu1059Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=562898[alleleid]",
        "alleleId": 562898,
        "preferredName": "NM_005219.5(DIAPH1):c.3175C>G (p.Leu1059Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/578663",
        "RCV": [
          "RCV000701741",
          "RCV004017721"
        ],
        "variationId": 578663
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-140907238-G-C",
        "id": "5-140907238-G-C",
        "variant": "5:140907238 G / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.140907238G>C?assembly=hg19",
        "id": "chr5:g.140907238G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.141527671G>C?assembly=hg38",
        "id": "chr5:g.141527671G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/200394036",
        "rs": 200394036
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-140907238-G-C?dataset=gnomad_r2_1",
        "id": "5-140907238-G-C",
        "variant": "5:140907238 G / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-141527671-G-C?dataset=gnomad_r3",
        "id": "5-141527671-G-C",
        "variant": "5:141527671 G / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-141527671-G-C?dataset=gnomad_r4",
        "id": "5-141527671-G-C",
        "variant": "5:141527671 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 141527671,
          "referenceAllele": "G",
          "start": 141527670
        }
      ],
      "hgvs": [
        "NC_000005.10:g.141527671G>C",
        "CM000667.2:g.141527671G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 140907238,
          "referenceAllele": "G",
          "start": 140907237
        }
      ],
      "hgvs": [
        "NC_000005.9:g.140907238G>C",
        "CM000667.1:g.140907238G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 140887422,
          "referenceAllele": "G",
          "start": 140887421
        }
      ],
      "hgvs": [
        "NC_000005.8:g.140887422G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 96385,
          "referenceAllele": "C",
          "start": 96384
        }
      ],
      "hgvs": [
        "NG_011594.1:g.96385C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001842"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 96385,
          "referenceAllele": "C",
          "start": 96384
        }
      ],
      "hgvs": [
        "NG_011594.2:g.96385C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673549"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3261,
          "referenceAllele": "C",
          "start": 3260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002876",
      "geneNCBI_id": 1729,
      "geneSymbol": "DIAPH1",
      "hgvs": [
        "ENST00000389054.8:c.3175C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373706.4:p.Leu1059Val",
        "hgvsWellDefined": "ENSP00000373706.4:p.Leu1059Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752781",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389054.8:c.3175C>G"
          },
          "RefSeq": {
            "hgvs": "NM_005219.5:c.3175C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000373706.4:p.Leu1059Val"
          },
          "RefSeq": {
            "hgvs": "NP_005210.3:p.Leu1059Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3316,
          "referenceAllele": "C",
          "start": 3315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002876",
      "geneNCBI_id": 1729,
      "geneSymbol": "DIAPH1",
      "hgvs": [
        "ENST00000647433.1:c.3175C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494675.1:p.Leu1059Val",
        "hgvsWellDefined": "ENSP00000494675.1:p.Leu1059Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769409"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3316,
          "referenceAllele": "C",
          "start": 3315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002876",
      "geneNCBI_id": 1729,
      "geneSymbol": "DIAPH1",
      "hgvs": [
        "ENST00000253811.10:c.3043C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000253811.7:p.Leu1015Val",
        "hgvsWellDefined": "ENSP00000253811.7:p.Leu1015Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249960"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3316,
          "referenceAllele": "C",
          "start": 3315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002876",
      "geneNCBI_id": 1729,
      "geneSymbol": "DIAPH1",
      "hgvs": [
        "ENST00000389054.7:c.3175C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373706.4:p.Leu1059Val",
        "hgvsWellDefined": "ENSP00000373706.4:p.Leu1059Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274138"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3289,
          "referenceAllele": "C",
          "start": 3288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002876",
      "geneNCBI_id": 1729,
      "geneSymbol": "DIAPH1",
      "hgvs": [
        "ENST00000389057.9:c.3148C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373709.6:p.Leu1050Val",
        "hgvsWellDefined": "ENSP00000373709.6:p.Leu1050Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274139"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3316,
          "referenceAllele": "C",
          "start": 3315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002876",
      "geneNCBI_id": 1729,
      "geneSymbol": "DIAPH1",
      "hgvs": [
        "ENST00000398557.8:c.3175C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381565.5:p.Leu1059Val",
        "hgvsWellDefined": "ENSP00000381565.5:p.Leu1059Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278324"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3148,
          "referenceAllele": "C",
          "start": 3147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002876",
      "geneNCBI_id": 1729,
      "geneSymbol": "DIAPH1",
      "hgvs": [
        "ENST00000518047.5:c.3148C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428268.2:p.Leu1050Val",
        "hgvsWellDefined": "ENSP00000428268.2:p.Leu1050Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS345582"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825447294",
      "coordinates": [
        {
          "allele": "G",
          "end": 3289,
          "referenceAllele": "C",
          "start": 3288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002876",
      "geneNCBI_id": 1729,
      "geneSymbol": "DIAPH1",
      "hgvs": [
        "NM_001079812.2:c.3148C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073280.1:p.Leu1050Val",
        "hgvsWellDefined": "NP_001073280.1:p.Leu1050Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010096"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826949347",
      "coordinates": [
        {
          "allele": "G",
          "end": 3316,
          "referenceAllele": "C",
          "start": 3315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002876",
      "geneNCBI_id": 1729,
      "geneSymbol": "DIAPH1",
      "hgvs": [
        "NM_001314007.1:c.3175C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001300936.1:p.Leu1059Val",
        "hgvsWellDefined": "NP_001300936.1:p.Leu1059Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026512"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891849936",
      "coordinates": [
        {
          "allele": "G",
          "end": 3316,
          "referenceAllele": "C",
          "start": 3315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002876",
      "geneNCBI_id": 1729,
      "geneSymbol": "DIAPH1",
      "hgvs": [
        "NM_005219.4:c.3175C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_005210.3:p.Leu1059Val",
        "hgvsWellDefined": "NP_005210.3:p.Leu1059Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030331"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3154,
          "referenceAllele": "C",
          "start": 3153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002876",
      "geneNCBI_id": 1729,
      "geneSymbol": "DIAPH1",
      "hgvs": [
        "XM_011537572.1:c.3139C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535874.1:p.Leu1047Val",
        "hgvsWellDefined": "XP_011535874.1:p.Leu1047Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104536"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3124,
          "referenceAllele": "C",
          "start": 3123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002876",
      "geneNCBI_id": 1729,
      "geneSymbol": "DIAPH1",
      "hgvs": [
        "XM_011537573.1:c.3109C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535875.1:p.Leu1037Val",
        "hgvsWellDefined": "XP_011535875.1:p.Leu1037Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104537"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3316,
          "referenceAllele": "C",
          "start": 3315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002876",
      "geneNCBI_id": 1729,
      "geneSymbol": "DIAPH1",
      "hgvs": [
        "XM_024454384.1:c.3175C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024310152.1:p.Leu1059Val",
        "hgvsWellDefined": "XP_024310152.1:p.Leu1059Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587746"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3240,
          "referenceAllele": "C",
          "start": 3239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002876",
      "geneNCBI_id": 1729,
      "geneSymbol": "DIAPH1",
      "hgvs": [
        "XM_024454385.1:c.3148C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024310153.1:p.Leu1050Val",
        "hgvsWellDefined": "XP_024310153.1:p.Leu1050Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587747"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3897,
          "referenceAllele": "C",
          "start": 3896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002876",
      "geneNCBI_id": 1729,
      "geneSymbol": "DIAPH1",
      "hgvs": [
        "XM_024454386.1:c.3139C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024310154.1:p.Leu1047Val",
        "hgvsWellDefined": "XP_024310154.1:p.Leu1047Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587748"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3124,
          "referenceAllele": "C",
          "start": 3123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002876",
      "geneNCBI_id": 1729,
      "geneSymbol": "DIAPH1",
      "hgvs": [
        "XM_024454387.1:c.3109C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024310155.1:p.Leu1037Val",
        "hgvsWellDefined": "XP_024310155.1:p.Leu1037Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587749"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891849936",
      "coordinates": [
        {
          "allele": "G",
          "end": 3261,
          "referenceAllele": "C",
          "start": 3260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002876",
      "geneNCBI_id": 1729,
      "geneSymbol": "DIAPH1",
      "hgvs": [
        "NM_005219.5:c.3175C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_005210.3:p.Leu1059Val",
        "hgvsWellDefined": "NP_005210.3:p.Leu1059Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666866",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389054.8:c.3175C>G"
          },
          "RefSeq": {
            "hgvs": "NM_005219.5:c.3175C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000373706.4:p.Leu1059Val"
          },
          "RefSeq": {
            "hgvs": "NP_005210.3:p.Leu1059Val"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825447294",
      "coordinates": [
        {
          "allele": "G",
          "end": 3234,
          "referenceAllele": "C",
          "start": 3233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002876",
      "geneNCBI_id": 1729,
      "geneSymbol": "DIAPH1",
      "hgvs": [
        "NM_001079812.3:c.3148C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073280.1:p.Leu1050Val",
        "hgvsWellDefined": "NP_001073280.1:p.Leu1050Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676223"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826949347",
      "coordinates": [
        {
          "allele": "G",
          "end": 3261,
          "referenceAllele": "C",
          "start": 3260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002876",
      "geneNCBI_id": 1729,
      "geneSymbol": "DIAPH1",
      "hgvs": [
        "NM_001314007.2:c.3175C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001300936.1:p.Leu1059Val",
        "hgvsWellDefined": "NP_001300936.1:p.Leu1059Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684120"
    }
  ],
  "type": "nucleotide"
}