{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA310132325",
  "communityStandardTitle": [
    "NM_003283.6(TNNT1):c.428G>A (p.Arg143Gln)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3971265",
        "active": true,
        "id": "COSM3971265"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2123648[alleleid]",
        "alleleId": 2123648,
        "preferredName": "NM_003283.6(TNNT1):c.428G>A (p.Arg143Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2073560",
        "RCV": [
          "RCV002971978"
        ],
        "variationId": 2073560
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.55649402C>T?assembly=hg19",
        "id": "chr19:g.55649402C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.55138034C>T?assembly=hg38",
        "id": "chr19:g.55138034C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/367977700",
        "rs": 367977700
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-55649402-C-T?dataset=gnomad_r2_1",
        "id": "19-55649402-C-T",
        "variant": "19:55649402 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-55138034-C-T?dataset=gnomad_r4",
        "id": "19-55138034-C-T",
        "variant": "19:55138034 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 55138034,
          "referenceAllele": "C",
          "start": 55138033
        }
      ],
      "hgvs": [
        "NC_000019.10:g.55138034C>T",
        "CM000681.2:g.55138034C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 55649402,
          "referenceAllele": "C",
          "start": 55649401
        }
      ],
      "hgvs": [
        "NC_000019.9:g.55649402C>T",
        "CM000681.1:g.55649402C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 60341214,
          "referenceAllele": "C",
          "start": 60341213
        }
      ],
      "hgvs": [
        "NC_000019.8:g.60341214C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 16205,
          "referenceAllele": "G",
          "start": 16204
        }
      ],
      "hgvs": [
        "NG_011829.2:g.16205G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002009"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 485,
          "referenceAllele": "G",
          "start": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011948",
      "geneNCBI_id": 7138,
      "geneSymbol": "TNNT1",
      "hgvs": [
        "ENST00000588981.6:c.428G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467176.1:p.Arg143Gln",
        "hgvsWellDefined": "ENSP00000467176.1:p.Arg143Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761142",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000588981.6:c.428G>A"
          },
          "RefSeq": {
            "hgvs": "NM_003283.6:c.428G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000467176.1:p.Arg143Gln"
          },
          "RefSeq": {
            "hgvs": "NP_003274.3:p.Arg143Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 485,
          "referenceAllele": "G",
          "start": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011948",
      "geneNCBI_id": 7138,
      "geneSymbol": "TNNT1",
      "hgvs": [
        "ENST00000291901.12:c.428G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000291901.8:p.Arg143Gln",
        "hgvsWellDefined": "ENSP00000291901.8:p.Arg143Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253772"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 452,
          "referenceAllele": "G",
          "start": 451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011948",
      "geneNCBI_id": 7138,
      "geneSymbol": "TNNT1",
      "hgvs": [
        "ENST00000356783.9:c.395G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349233.4:p.Arg132Gln",
        "hgvsWellDefined": "ENSP00000349233.4:p.Arg132Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263872"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 457,
          "referenceAllele": "G",
          "start": 456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011948",
      "geneNCBI_id": 7138,
      "geneSymbol": "TNNT1",
      "hgvs": [
        "ENST00000536926.5:c.218G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439640.2:p.Arg73Gln",
        "hgvsWellDefined": "ENSP00000439640.2:p.Arg73Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360507"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 584,
          "referenceAllele": "G",
          "start": 583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011948",
      "geneNCBI_id": 7138,
      "geneSymbol": "TNNT1",
      "hgvs": [
        "ENST00000585321.6:c.218G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467980.2:p.Arg73Gln",
        "hgvsWellDefined": "ENSP00000467980.2:p.Arg73Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS388647"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 480,
          "referenceAllele": "G",
          "start": 479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011948",
      "geneNCBI_id": 7138,
      "geneSymbol": "TNNT1",
      "hgvs": [
        "ENST00000587089.6:c.480G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS389834"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 624,
          "referenceAllele": "G",
          "start": 623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011948",
      "geneNCBI_id": 7138,
      "geneSymbol": "TNNT1",
      "hgvs": [
        "ENST00000587465.6:c.218G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000464843.2:p.Arg73Gln",
        "hgvsWellDefined": "ENSP00000464843.2:p.Arg73Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS390098"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 534,
          "referenceAllele": "G",
          "start": 533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011948",
      "geneNCBI_id": 7138,
      "geneSymbol": "TNNT1",
      "hgvs": [
        "ENST00000587758.5:c.395G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467789.1:p.Arg132Gln",
        "hgvsWellDefined": "ENSP00000467789.1:p.Arg132Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS390303"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 473,
          "referenceAllele": "G",
          "start": 472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011948",
      "geneNCBI_id": 7138,
      "geneSymbol": "TNNT1",
      "hgvs": [
        "ENST00000588147.5:c.416G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467299.1:p.Arg139Gln",
        "hgvsWellDefined": "ENSP00000467299.1:p.Arg139Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS390582"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 201,
          "referenceAllele": "G",
          "start": 200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011948",
      "geneNCBI_id": 7138,
      "geneSymbol": "TNNT1",
      "hgvs": [
        "ENST00000588426.5:c.119G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465991.1:p.Arg40Gln",
        "hgvsWellDefined": "ENSP00000465991.1:p.Arg40Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS390763"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 633,
          "referenceAllele": "G",
          "start": 632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011948",
      "geneNCBI_id": 7138,
      "geneSymbol": "TNNT1",
      "hgvs": [
        "ENST00000588981.5:c.428G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467176.1:p.Arg143Gln",
        "hgvsWellDefined": "ENSP00000467176.1:p.Arg143Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS391169"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 546,
          "referenceAllele": "G",
          "start": 545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011948",
      "geneNCBI_id": 7138,
      "geneSymbol": "TNNT1",
      "hgvs": [
        "ENST00000589226.5:c.395G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000470854.1:p.Arg132Gln",
        "hgvsWellDefined": "ENSP00000470854.1:p.Arg132Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS391344"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 81,
          "referenceAllele": "G",
          "start": 80
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011948",
      "geneNCBI_id": 7138,
      "geneSymbol": "TNNT1",
      "hgvs": [
        "ENST00000589745.5:c.81G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS391711"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 554,
          "referenceAllele": "G",
          "start": 553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011948",
      "geneNCBI_id": 7138,
      "geneSymbol": "TNNT1",
      "hgvs": [
        "ENST00000592920.5:n.554G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS393894"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 617,
          "referenceAllele": "G",
          "start": 616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011948",
      "geneNCBI_id": 7138,
      "geneSymbol": "TNNT1",
      "hgvs": [
        "ENST00000593046.5:c.428G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000470777.1:p.Arg143Gln",
        "hgvsWellDefined": "ENSP00000470777.1:p.Arg143Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS393977"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 271,
          "referenceAllele": "G",
          "start": 270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011948",
      "geneNCBI_id": 7138,
      "geneSymbol": "TNNT1",
      "hgvs": [
        "ENST00000593194.5:c.271G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS394081"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825622959",
      "coordinates": [
        {
          "allele": "A",
          "end": 633,
          "referenceAllele": "G",
          "start": 632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011948",
      "geneNCBI_id": 7138,
      "geneSymbol": "TNNT1",
      "hgvs": [
        "NM_001126132.2:c.428G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119604.1:p.Arg143Gln",
        "hgvsWellDefined": "NP_001119604.1:p.Arg143Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011504"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825623145",
      "coordinates": [
        {
          "allele": "A",
          "end": 600,
          "referenceAllele": "G",
          "start": 599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011948",
      "geneNCBI_id": 7138,
      "geneSymbol": "TNNT1",
      "hgvs": [
        "NM_001126133.2:c.395G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119605.1:p.Arg132Gln",
        "hgvsWellDefined": "NP_001119605.1:p.Arg132Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011505"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826808535",
      "coordinates": [
        {
          "allele": "A",
          "end": 695,
          "referenceAllele": "G",
          "start": 694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011948",
      "geneNCBI_id": 7138,
      "geneSymbol": "TNNT1",
      "hgvs": [
        "NM_001291774.1:c.395G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278703.1:p.Arg132Gln",
        "hgvsWellDefined": "NP_001278703.1:p.Arg132Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024314"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580290299",
      "coordinates": [
        {
          "allele": "A",
          "end": 633,
          "referenceAllele": "G",
          "start": 632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011948",
      "geneNCBI_id": 7138,
      "geneSymbol": "TNNT1",
      "hgvs": [
        "NM_003283.5:c.428G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003274.3:p.Arg143Gln",
        "hgvsWellDefined": "NP_003274.3:p.Arg143Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028535"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 564,
          "referenceAllele": "G",
          "start": 563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011948",
      "geneNCBI_id": 7138,
      "geneSymbol": "TNNT1",
      "hgvs": [
        "XM_006723343.2:c.464G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006723406.1:p.Arg155Gln",
        "hgvsWellDefined": "XP_006723406.1:p.Arg155Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075009"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 463,
          "referenceAllele": "G",
          "start": 462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011948",
      "geneNCBI_id": 7138,
      "geneSymbol": "TNNT1",
      "hgvs": [
        "XM_011527243.1:c.452G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525545.1:p.Arg151Gln",
        "hgvsWellDefined": "XP_011525545.1:p.Arg151Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094337"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 442,
          "referenceAllele": "G",
          "start": 441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011948",
      "geneNCBI_id": 7138,
      "geneSymbol": "TNNT1",
      "hgvs": [
        "XM_011527244.1:c.431G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525546.1:p.Arg144Gln",
        "hgvsWellDefined": "XP_011525546.1:p.Arg144Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094338"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 454,
          "referenceAllele": "G",
          "start": 453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011948",
      "geneNCBI_id": 7138,
      "geneSymbol": "TNNT1",
      "hgvs": [
        "XM_011527245.1:c.428G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525547.1:p.Arg143Gln",
        "hgvsWellDefined": "XP_011525547.1:p.Arg143Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094339"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 516,
          "referenceAllele": "G",
          "start": 515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011948",
      "geneNCBI_id": 7138,
      "geneSymbol": "TNNT1",
      "hgvs": [
        "XM_011527246.1:c.416G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525548.1:p.Arg139Gln",
        "hgvsWellDefined": "XP_011525548.1:p.Arg139Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094340"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 509,
          "referenceAllele": "G",
          "start": 508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011948",
      "geneNCBI_id": 7138,
      "geneSymbol": "TNNT1",
      "hgvs": [
        "XM_011527246.3:c.416G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525548.1:p.Arg139Gln",
        "hgvsWellDefined": "XP_011525548.1:p.Arg139Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548591"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 706,
          "referenceAllele": "G",
          "start": 705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011948",
      "geneNCBI_id": 7138,
      "geneSymbol": "TNNT1",
      "hgvs": [
        "XM_017027186.1:c.428G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016882675.1:p.Arg143Gln",
        "hgvsWellDefined": "XP_016882675.1:p.Arg143Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577167"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 694,
          "referenceAllele": "G",
          "start": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011948",
      "geneNCBI_id": 7138,
      "geneSymbol": "TNNT1",
      "hgvs": [
        "XM_017027187.1:c.416G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016882676.1:p.Arg139Gln",
        "hgvsWellDefined": "XP_016882676.1:p.Arg139Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577168"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580290299",
      "coordinates": [
        {
          "allele": "A",
          "end": 485,
          "referenceAllele": "G",
          "start": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011948",
      "geneNCBI_id": 7138,
      "geneSymbol": "TNNT1",
      "hgvs": [
        "NM_003283.6:c.428G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003274.3:p.Arg143Gln",
        "hgvsWellDefined": "NP_003274.3:p.Arg143Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665967",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000588981.6:c.428G>A"
          },
          "RefSeq": {
            "hgvs": "NM_003283.6:c.428G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000467176.1:p.Arg143Gln"
          },
          "RefSeq": {
            "hgvs": "NP_003274.3:p.Arg143Gln"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825622959",
      "coordinates": [
        {
          "allele": "A",
          "end": 485,
          "referenceAllele": "G",
          "start": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011948",
      "geneNCBI_id": 7138,
      "geneSymbol": "TNNT1",
      "hgvs": [
        "NM_001126132.3:c.428G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119604.1:p.Arg143Gln",
        "hgvsWellDefined": "NP_001119604.1:p.Arg143Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676826"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825623145",
      "coordinates": [
        {
          "allele": "A",
          "end": 452,
          "referenceAllele": "G",
          "start": 451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011948",
      "geneNCBI_id": 7138,
      "geneSymbol": "TNNT1",
      "hgvs": [
        "NM_001126133.3:c.395G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119605.1:p.Arg132Gln",
        "hgvsWellDefined": "NP_001119605.1:p.Arg132Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676827"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826808535",
      "coordinates": [
        {
          "allele": "A",
          "end": 547,
          "referenceAllele": "G",
          "start": 546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011948",
      "geneNCBI_id": 7138,
      "geneSymbol": "TNNT1",
      "hgvs": [
        "NM_001291774.2:c.395G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278703.1:p.Arg132Gln",
        "hgvsWellDefined": "NP_001278703.1:p.Arg132Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682863"
    }
  ],
  "type": "nucleotide"
}