{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA407432749",
  "communityStandardTitle": [
    "NM_003283.6(TNNT1):c.538G>A (p.Glu180Lys)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.55648544C>T?assembly=hg19",
        "id": "chr19:g.55648544C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.55137176C>T?assembly=hg38",
        "id": "chr19:g.55137176C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/80358249",
        "rs": 80358249
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-55137176-C-T?dataset=gnomad_r4",
        "id": "19-55137176-C-T",
        "variant": "19:55137176 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 55137176,
          "referenceAllele": "C",
          "start": 55137175
        }
      ],
      "hgvs": [
        "NC_000019.10:g.55137176C>T",
        "CM000681.2:g.55137176C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 55648544,
          "referenceAllele": "C",
          "start": 55648543
        }
      ],
      "hgvs": [
        "NC_000019.9:g.55648544C>T",
        "CM000681.1:g.55648544C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 60340356,
          "referenceAllele": "C",
          "start": 60340355
        }
      ],
      "hgvs": [
        "NC_000019.8:g.60340356C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 17063,
          "referenceAllele": "G",
          "start": 17062
        }
      ],
      "hgvs": [
        "NG_011829.2:g.17063G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002009"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 595,
          "referenceAllele": "G",
          "start": 594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011948",
      "geneNCBI_id": 7138,
      "geneSymbol": "TNNT1",
      "hgvs": [
        "ENST00000588981.6:c.538G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467176.1:p.Glu180Lys",
        "hgvsWellDefined": "ENSP00000467176.1:p.Glu180Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761142",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000588981.6:c.538G>A"
          },
          "RefSeq": {
            "hgvs": "NM_003283.6:c.538G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000467176.1:p.Glu180Lys"
          },
          "RefSeq": {
            "hgvs": "NP_003274.3:p.Glu180Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 595,
          "referenceAllele": "G",
          "start": 594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011948",
      "geneNCBI_id": 7138,
      "geneSymbol": "TNNT1",
      "hgvs": [
        "ENST00000291901.12:c.538G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000291901.8:p.Glu180Lys",
        "hgvsWellDefined": "ENSP00000291901.8:p.Glu180Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253772"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 562,
          "referenceAllele": "G",
          "start": 561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011948",
      "geneNCBI_id": 7138,
      "geneSymbol": "TNNT1",
      "hgvs": [
        "ENST00000356783.9:c.505G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349233.4:p.Glu169Lys",
        "hgvsWellDefined": "ENSP00000349233.4:p.Glu169Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263872"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 567,
          "referenceAllele": "G",
          "start": 566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011948",
      "geneNCBI_id": 7138,
      "geneSymbol": "TNNT1",
      "hgvs": [
        "ENST00000536926.5:c.328G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439640.2:p.Glu110Lys",
        "hgvsWellDefined": "ENSP00000439640.2:p.Glu110Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360507"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 694,
          "referenceAllele": "G",
          "start": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011948",
      "geneNCBI_id": 7138,
      "geneSymbol": "TNNT1",
      "hgvs": [
        "ENST00000585321.6:c.328G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467980.2:p.Glu110Lys",
        "hgvsWellDefined": "ENSP00000467980.2:p.Glu110Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS388647"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2,
          "referenceAllele": "G",
          "start": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011948",
      "geneNCBI_id": 7138,
      "geneSymbol": "TNNT1",
      "hgvs": [
        "ENST00000586649.2:c.2G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS389538"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 590,
          "referenceAllele": "G",
          "start": 589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011948",
      "geneNCBI_id": 7138,
      "geneSymbol": "TNNT1",
      "hgvs": [
        "ENST00000587089.6:c.590G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS389834"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 734,
          "referenceAllele": "G",
          "start": 733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011948",
      "geneNCBI_id": 7138,
      "geneSymbol": "TNNT1",
      "hgvs": [
        "ENST00000587465.6:c.328G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000464843.2:p.Glu110Lys",
        "hgvsWellDefined": "ENSP00000464843.2:p.Glu110Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS390098"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 644,
          "referenceAllele": "G",
          "start": 643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011948",
      "geneNCBI_id": 7138,
      "geneSymbol": "TNNT1",
      "hgvs": [
        "ENST00000587758.5:c.505G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467789.1:p.Glu169Lys",
        "hgvsWellDefined": "ENSP00000467789.1:p.Glu169Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS390303"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 311,
          "referenceAllele": "G",
          "start": 310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011948",
      "geneNCBI_id": 7138,
      "geneSymbol": "TNNT1",
      "hgvs": [
        "ENST00000588426.5:c.229G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465991.1:p.Glu77Lys",
        "hgvsWellDefined": "ENSP00000465991.1:p.Glu77Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS390763"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 743,
          "referenceAllele": "G",
          "start": 742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011948",
      "geneNCBI_id": 7138,
      "geneSymbol": "TNNT1",
      "hgvs": [
        "ENST00000588981.5:c.538G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467176.1:p.Glu180Lys",
        "hgvsWellDefined": "ENSP00000467176.1:p.Glu180Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS391169"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 191,
          "referenceAllele": "G",
          "start": 190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011948",
      "geneNCBI_id": 7138,
      "geneSymbol": "TNNT1",
      "hgvs": [
        "ENST00000589745.5:c.191G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS391711"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 727,
          "referenceAllele": "G",
          "start": 726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011948",
      "geneNCBI_id": 7138,
      "geneSymbol": "TNNT1",
      "hgvs": [
        "ENST00000593046.5:c.538G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000470777.1:p.Glu180Lys",
        "hgvsWellDefined": "ENSP00000470777.1:p.Glu180Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS393977"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 381,
          "referenceAllele": "G",
          "start": 380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011948",
      "geneNCBI_id": 7138,
      "geneSymbol": "TNNT1",
      "hgvs": [
        "ENST00000593194.5:c.381G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS394081"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 743,
          "referenceAllele": "G",
          "start": 742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011948",
      "geneNCBI_id": 7138,
      "geneSymbol": "TNNT1",
      "hgvs": [
        "NM_001126132.2:c.538G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119604.1:p.Glu180Lys",
        "hgvsWellDefined": "NP_001119604.1:p.Glu180Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011504"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 710,
          "referenceAllele": "G",
          "start": 709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011948",
      "geneNCBI_id": 7138,
      "geneSymbol": "TNNT1",
      "hgvs": [
        "NM_001126133.2:c.505G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119605.1:p.Glu169Lys",
        "hgvsWellDefined": "NP_001119605.1:p.Glu169Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011505"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 805,
          "referenceAllele": "G",
          "start": 804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011948",
      "geneNCBI_id": 7138,
      "geneSymbol": "TNNT1",
      "hgvs": [
        "NM_001291774.1:c.505G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278703.1:p.Glu169Lys",
        "hgvsWellDefined": "NP_001278703.1:p.Glu169Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024314"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3085868713",
      "coordinates": [
        {
          "allele": "A",
          "end": 743,
          "referenceAllele": "G",
          "start": 742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011948",
      "geneNCBI_id": 7138,
      "geneSymbol": "TNNT1",
      "hgvs": [
        "NM_003283.5:c.538G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003274.3:p.Glu180Lys",
        "hgvsWellDefined": "NP_003274.3:p.Glu180Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028535"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 674,
          "referenceAllele": "G",
          "start": 673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011948",
      "geneNCBI_id": 7138,
      "geneSymbol": "TNNT1",
      "hgvs": [
        "XM_006723343.2:c.574G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006723406.1:p.Glu192Lys",
        "hgvsWellDefined": "XP_006723406.1:p.Glu192Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075009"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 573,
          "referenceAllele": "G",
          "start": 572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011948",
      "geneNCBI_id": 7138,
      "geneSymbol": "TNNT1",
      "hgvs": [
        "XM_011527243.1:c.562G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525545.1:p.Glu188Lys",
        "hgvsWellDefined": "XP_011525545.1:p.Glu188Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094337"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 552,
          "referenceAllele": "G",
          "start": 551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011948",
      "geneNCBI_id": 7138,
      "geneSymbol": "TNNT1",
      "hgvs": [
        "XM_011527244.1:c.541G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525546.1:p.Glu181Lys",
        "hgvsWellDefined": "XP_011525546.1:p.Glu181Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094338"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 564,
          "referenceAllele": "G",
          "start": 563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011948",
      "geneNCBI_id": 7138,
      "geneSymbol": "TNNT1",
      "hgvs": [
        "XM_011527245.1:c.538G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525547.1:p.Glu180Lys",
        "hgvsWellDefined": "XP_011525547.1:p.Glu180Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094339"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 626,
          "referenceAllele": "G",
          "start": 625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011948",
      "geneNCBI_id": 7138,
      "geneSymbol": "TNNT1",
      "hgvs": [
        "XM_011527246.1:c.526G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525548.1:p.Glu176Lys",
        "hgvsWellDefined": "XP_011525548.1:p.Glu176Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094340"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 619,
          "referenceAllele": "G",
          "start": 618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011948",
      "geneNCBI_id": 7138,
      "geneSymbol": "TNNT1",
      "hgvs": [
        "XM_011527246.3:c.526G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525548.1:p.Glu176Lys",
        "hgvsWellDefined": "XP_011525548.1:p.Glu176Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548591"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 816,
          "referenceAllele": "G",
          "start": 815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011948",
      "geneNCBI_id": 7138,
      "geneSymbol": "TNNT1",
      "hgvs": [
        "XM_017027186.1:c.538G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016882675.1:p.Glu180Lys",
        "hgvsWellDefined": "XP_016882675.1:p.Glu180Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577167"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 804,
          "referenceAllele": "G",
          "start": 803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011948",
      "geneNCBI_id": 7138,
      "geneSymbol": "TNNT1",
      "hgvs": [
        "XM_017027187.1:c.526G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016882676.1:p.Glu176Lys",
        "hgvsWellDefined": "XP_016882676.1:p.Glu176Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577168"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3085868713",
      "coordinates": [
        {
          "allele": "A",
          "end": 595,
          "referenceAllele": "G",
          "start": 594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011948",
      "geneNCBI_id": 7138,
      "geneSymbol": "TNNT1",
      "hgvs": [
        "NM_003283.6:c.538G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003274.3:p.Glu180Lys",
        "hgvsWellDefined": "NP_003274.3:p.Glu180Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665967",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000588981.6:c.538G>A"
          },
          "RefSeq": {
            "hgvs": "NM_003283.6:c.538G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000467176.1:p.Glu180Lys"
          },
          "RefSeq": {
            "hgvs": "NP_003274.3:p.Glu180Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 595,
          "referenceAllele": "G",
          "start": 594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011948",
      "geneNCBI_id": 7138,
      "geneSymbol": "TNNT1",
      "hgvs": [
        "NM_001126132.3:c.538G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119604.1:p.Glu180Lys",
        "hgvsWellDefined": "NP_001119604.1:p.Glu180Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676826"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 562,
          "referenceAllele": "G",
          "start": 561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011948",
      "geneNCBI_id": 7138,
      "geneSymbol": "TNNT1",
      "hgvs": [
        "NM_001126133.3:c.505G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119605.1:p.Glu169Lys",
        "hgvsWellDefined": "NP_001119605.1:p.Glu169Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676827"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 657,
          "referenceAllele": "G",
          "start": 656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011948",
      "geneNCBI_id": 7138,
      "geneSymbol": "TNNT1",
      "hgvs": [
        "NM_001291774.2:c.505G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278703.1:p.Glu169Lys",
        "hgvsWellDefined": "NP_001278703.1:p.Glu169Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682863"
    }
  ],
  "type": "nucleotide"
}