{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1125809",
  "communityStandardTitle": [
    "NM_152263.4(TPM3):c.231G>A (p.Lys77=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1066264[alleleid]",
        "alleleId": 1066264,
        "preferredName": "NM_152263.4(TPM3):c.231G>A (p.Lys77=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1087151",
        "RCV": [
          "RCV001405178"
        ],
        "variationId": 1087151
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-154163674-C-T",
        "id": "1-154163674-C-T",
        "variant": "1:154163674 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.154163674C>T?assembly=hg19",
        "id": "chr1:g.154163674C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.154191198C>T?assembly=hg38",
        "id": "chr1:g.154191198C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/761461964",
        "rs": 761461964
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-154163674-C-T?dataset=gnomad_r2_1",
        "id": "1-154163674-C-T",
        "variant": "1:154163674 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-154191198-C-T?dataset=gnomad_r3",
        "id": "1-154191198-C-T",
        "variant": "1:154191198 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-154191198-C-T?dataset=gnomad_r4",
        "id": "1-154191198-C-T",
        "variant": "1:154191198 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 154191198,
          "referenceAllele": "C",
          "start": 154191197
        }
      ],
      "hgvs": [
        "NC_000001.11:g.154191198C>T",
        "CM000663.2:g.154191198C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 154163674,
          "referenceAllele": "C",
          "start": 154163673
        }
      ],
      "hgvs": [
        "NC_000001.10:g.154163674C>T",
        "CM000663.1:g.154163674C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 152430298,
          "referenceAllele": "C",
          "start": 152430297
        }
      ],
      "hgvs": [
        "NC_000001.9:g.152430298C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5936,
          "referenceAllele": "G",
          "start": 5935
        }
      ],
      "hgvs": [
        "NG_008621.1:g.5936G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001130"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 289,
          "referenceAllele": "G",
          "start": 288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012012",
      "geneNCBI_id": 7170,
      "geneSymbol": "TPM3",
      "hgvs": [
        "ENST00000368530.7:c.231G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357516.3:p.Lys77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750226"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 313,
          "referenceAllele": "G",
          "start": 312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012012",
      "geneNCBI_id": 7170,
      "geneSymbol": "TPM3",
      "hgvs": [
        "ENST00000651641.1:c.231G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498577.1:p.Lys77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771782",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000651641.1:c.231G>A"
          },
          "RefSeq": {
            "hgvs": "NM_152263.4:c.231G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498577.1:p.Lys77="
          },
          "RefSeq": {
            "hgvs": "NP_689476.2:p.Lys77="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 318,
          "referenceAllele": "G",
          "start": 317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012012",
      "geneNCBI_id": 7170,
      "geneSymbol": "TPM3",
      "hgvs": [
        "ENST00000651644.1:c.231G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498648.1:p.Lys77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771785"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 271,
          "referenceAllele": "G",
          "start": 270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012012",
      "geneNCBI_id": 7170,
      "geneSymbol": "TPM3",
      "hgvs": [
        "ENST00000271850.11:c.231G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000271850.7:p.Lys77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252325"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 424,
          "referenceAllele": "G",
          "start": 423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012012",
      "geneNCBI_id": 7170,
      "geneSymbol": "TPM3",
      "hgvs": [
        "ENST00000368530.6:c.231G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357516.2:p.Lys77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267019"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 266,
          "referenceAllele": "G",
          "start": 265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012012",
      "geneNCBI_id": 7170,
      "geneSymbol": "TPM3",
      "hgvs": [
        "ENST00000466010.1:n.266G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS309485"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830292605",
      "coordinates": [
        {
          "allele": "A",
          "end": 348,
          "referenceAllele": "G",
          "start": 347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012012",
      "geneNCBI_id": 7170,
      "geneSymbol": "TPM3",
      "hgvs": [
        "NM_152263.3:c.231G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_689476.2:p.Lys77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041729"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 385,
          "referenceAllele": "G",
          "start": 384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012012",
      "geneNCBI_id": 7170,
      "geneSymbol": "TPM3",
      "hgvs": [
        "NR_103460.1:n.385G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052886"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 314,
          "referenceAllele": "G",
          "start": 313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012012",
      "geneNCBI_id": 7170,
      "geneSymbol": "TPM3",
      "hgvs": [
        "XM_006711515.1:c.231G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711578.1:p.Lys77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069161"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 314,
          "referenceAllele": "G",
          "start": 313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012012",
      "geneNCBI_id": 7170,
      "geneSymbol": "TPM3",
      "hgvs": [
        "XM_006711517.1:c.231G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711580.1:p.Lys77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069162"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 314,
          "referenceAllele": "G",
          "start": 313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012012",
      "geneNCBI_id": 7170,
      "geneSymbol": "TPM3",
      "hgvs": [
        "XM_006711518.1:c.231G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711581.1:p.Lys77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069163"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 314,
          "referenceAllele": "G",
          "start": 313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012012",
      "geneNCBI_id": 7170,
      "geneSymbol": "TPM3",
      "hgvs": [
        "XM_006711519.1:c.231G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711582.1:p.Lys77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069164"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 314,
          "referenceAllele": "G",
          "start": 313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012012",
      "geneNCBI_id": 7170,
      "geneSymbol": "TPM3",
      "hgvs": [
        "XM_006711520.1:c.231G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711583.1:p.Lys77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069165"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 314,
          "referenceAllele": "G",
          "start": 313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012012",
      "geneNCBI_id": 7170,
      "geneSymbol": "TPM3",
      "hgvs": [
        "XM_006711521.1:c.231G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711584.1:p.Lys77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069166"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 314,
          "referenceAllele": "G",
          "start": 313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012012",
      "geneNCBI_id": 7170,
      "geneSymbol": "TPM3",
      "hgvs": [
        "XM_011509950.1:c.231G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508252.1:p.Lys77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077215"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 314,
          "referenceAllele": "G",
          "start": 313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012012",
      "geneNCBI_id": 7170,
      "geneSymbol": "TPM3",
      "hgvs": [
        "XM_011509951.1:c.231G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508253.1:p.Lys77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077216"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828151625",
      "coordinates": [
        {
          "allele": "A",
          "end": 313,
          "referenceAllele": "G",
          "start": 312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012012",
      "geneNCBI_id": 7170,
      "geneSymbol": "TPM3",
      "hgvs": [
        "NM_001364679.1:c.231G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351608.1:p.Lys77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523914"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828151744",
      "coordinates": [
        {
          "allele": "A",
          "end": 313,
          "referenceAllele": "G",
          "start": 312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012012",
      "geneNCBI_id": 7170,
      "geneSymbol": "TPM3",
      "hgvs": [
        "NM_001364680.1:c.231G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351609.1:p.Lys77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523915"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828151857",
      "coordinates": [
        {
          "allele": "A",
          "end": 313,
          "referenceAllele": "G",
          "start": 312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012012",
      "geneNCBI_id": 7170,
      "geneSymbol": "TPM3",
      "hgvs": [
        "NM_001364681.1:c.231G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351610.1:p.Lys77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523916"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828151978",
      "coordinates": [
        {
          "allele": "A",
          "end": 313,
          "referenceAllele": "G",
          "start": 312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012012",
      "geneNCBI_id": 7170,
      "geneSymbol": "TPM3",
      "hgvs": [
        "NM_001364682.1:c.231G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351611.1:p.Lys77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523917"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830292605",
      "coordinates": [
        {
          "allele": "A",
          "end": 313,
          "referenceAllele": "G",
          "start": 312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012012",
      "geneNCBI_id": 7170,
      "geneSymbol": "TPM3",
      "hgvs": [
        "NM_152263.4:c.231G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_689476.2:p.Lys77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672257",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000651641.1:c.231G>A"
          },
          "RefSeq": {
            "hgvs": "NM_152263.4:c.231G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498577.1:p.Lys77="
          },
          "RefSeq": {
            "hgvs": "NP_689476.2:p.Lys77="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828151625",
      "coordinates": [
        {
          "allele": "A",
          "end": 313,
          "referenceAllele": "G",
          "start": 312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012012",
      "geneNCBI_id": 7170,
      "geneSymbol": "TPM3",
      "hgvs": [
        "NM_001364679.2:c.231G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351608.1:p.Lys77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690945"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828151744",
      "coordinates": [
        {
          "allele": "A",
          "end": 313,
          "referenceAllele": "G",
          "start": 312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012012",
      "geneNCBI_id": 7170,
      "geneSymbol": "TPM3",
      "hgvs": [
        "NM_001364680.2:c.231G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351609.1:p.Lys77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690946"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828151857",
      "coordinates": [
        {
          "allele": "A",
          "end": 313,
          "referenceAllele": "G",
          "start": 312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012012",
      "geneNCBI_id": 7170,
      "geneSymbol": "TPM3",
      "hgvs": [
        "NM_001364681.2:c.231G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351610.1:p.Lys77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690947"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 418,
          "referenceAllele": "G",
          "start": 417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012012",
      "geneNCBI_id": 7170,
      "geneSymbol": "TPM3",
      "hgvs": [
        "NR_103460.2:n.418G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702832"
    }
  ],
  "type": "nucleotide"
}