{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA278998948",
  "communityStandardTitle": [
    "NM_002474.3(MYH11):c.161A>G (p.Lys54Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=618341[alleleid]",
        "alleleId": 618341,
        "preferredName": "NM_002474.3(MYH11):c.161A>G (p.Lys54Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/628339",
        "RCV": [
          "RCV000772796",
          "RCV001280976",
          "RCV003224466"
        ],
        "variationId": 628339
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.15931949T>C?assembly=hg19",
        "id": "chr16:g.15931949T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.15838092T>C?assembly=hg38",
        "id": "chr16:g.15838092T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1015353331",
        "rs": 1015353331
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-15931949-T-C?dataset=gnomad_r2_1",
        "id": "16-15931949-T-C",
        "variant": "16:15931949 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-15838092-T-C?dataset=gnomad_r3",
        "id": "16-15838092-T-C",
        "variant": "16:15838092 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-15838092-T-C?dataset=gnomad_r4",
        "id": "16-15838092-T-C",
        "variant": "16:15838092 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 15838092,
          "referenceAllele": "T",
          "start": 15838091
        }
      ],
      "hgvs": [
        "NC_000016.10:g.15838092T>C",
        "CM000678.2:g.15838092T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 15931949,
          "referenceAllele": "T",
          "start": 15931948
        }
      ],
      "hgvs": [
        "NC_000016.9:g.15931949T>C",
        "CM000678.1:g.15931949T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 15839450,
          "referenceAllele": "T",
          "start": 15839449
        }
      ],
      "hgvs": [
        "NC_000016.8:g.15839450T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 23939,
          "referenceAllele": "A",
          "start": 23938
        }
      ],
      "hgvs": [
        "NG_009299.1:g.23939A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001555"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 266,
          "referenceAllele": "A",
          "start": 265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007569",
      "geneNCBI_id": 4629,
      "geneSymbol": "MYH11",
      "hgvs": [
        "ENST00000300036.6:c.161A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000300036.5:p.Lys54Arg",
        "hgvsWellDefined": "ENSP00000300036.5:p.Lys54Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744726",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000300036.6:c.161A>G"
          },
          "RefSeq": {
            "hgvs": "NM_002474.3:c.161A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000300036.5:p.Lys54Arg"
          },
          "RefSeq": {
            "hgvs": "NP_002465.1:p.Lys54Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 266,
          "referenceAllele": "A",
          "start": 265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007569",
      "geneNCBI_id": 4629,
      "geneSymbol": "MYH11",
      "hgvs": [
        "ENST00000452625.7:c.161A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407821.2:p.Lys54Arg",
        "hgvsWellDefined": "ENSP00000407821.2:p.Lys54Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756390",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000452625.7:c.161A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001040113.2:c.161A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000407821.2:p.Lys54Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001035202.1:p.Lys54Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 232,
          "referenceAllele": "A",
          "start": 231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007569",
      "geneNCBI_id": 4629,
      "geneSymbol": "MYH11",
      "hgvs": [
        "ENST00000576790.7:c.161A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458731.1:p.Lys54Arg",
        "hgvsWellDefined": "ENSP00000458731.1:p.Lys54Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760793"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 265,
          "referenceAllele": "A",
          "start": 264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007569",
      "geneNCBI_id": 4629,
      "geneSymbol": "MYH11",
      "hgvs": [
        "ENST00000652121.1:c.161A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498314.1:p.Lys54Arg",
        "hgvsWellDefined": "ENSP00000498314.1:p.Lys54Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772037"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 271,
          "referenceAllele": "A",
          "start": 270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007569",
      "geneNCBI_id": 4629,
      "geneSymbol": "MYH11",
      "hgvs": [
        "ENST00000300036.5:c.161A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000300036.5:p.Lys54Arg",
        "hgvsWellDefined": "ENSP00000300036.5:p.Lys54Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254812"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 249,
          "referenceAllele": "A",
          "start": 248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007569",
      "geneNCBI_id": 4629,
      "geneSymbol": "MYH11",
      "hgvs": [
        "ENST00000396324.7:c.161A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379616.3:p.Lys54Arg",
        "hgvsWellDefined": "ENSP00000379616.3:p.Lys54Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277213"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 249,
          "referenceAllele": "A",
          "start": 248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007569",
      "geneNCBI_id": 4629,
      "geneSymbol": "MYH11",
      "hgvs": [
        "ENST00000452625.6:c.161A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407821.2:p.Lys54Arg",
        "hgvsWellDefined": "ENSP00000407821.2:p.Lys54Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS301704"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 266,
          "referenceAllele": "A",
          "start": 265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007569",
      "geneNCBI_id": 4629,
      "geneSymbol": "MYH11",
      "hgvs": [
        "ENST00000571505.1:n.266A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS382532"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 271,
          "referenceAllele": "A",
          "start": 270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007569",
      "geneNCBI_id": 4629,
      "geneSymbol": "MYH11",
      "hgvs": [
        "ENST00000576790.6:c.161A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458731.1:p.Lys54Arg",
        "hgvsWellDefined": "ENSP00000458731.1:p.Lys54Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS384607"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 268,
          "referenceAllele": "A",
          "start": 267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007569",
      "geneNCBI_id": 4629,
      "geneSymbol": "MYH11",
      "hgvs": [
        "ENST00000616439.4:c.161A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484924.1:p.Lys54Arg",
        "hgvsWellDefined": "ENSP00000484924.1:p.Lys54Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403059"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825391823",
      "coordinates": [
        {
          "allele": "G",
          "end": 268,
          "referenceAllele": "A",
          "start": 267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007569",
      "geneNCBI_id": 4629,
      "geneSymbol": "MYH11",
      "hgvs": [
        "NM_001040113.1:c.161A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035202.1:p.Lys54Arg",
        "hgvsWellDefined": "NP_001035202.1:p.Lys54Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009512"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825393769",
      "coordinates": [
        {
          "allele": "G",
          "end": 268,
          "referenceAllele": "A",
          "start": 267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007569",
      "geneNCBI_id": 4629,
      "geneSymbol": "MYH11",
      "hgvs": [
        "NM_001040114.1:c.161A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035203.1:p.Lys54Arg",
        "hgvsWellDefined": "NP_001035203.1:p.Lys54Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009513"
    },
    {
      "@id": "http://reg.genome.network/allele/PA913199660",
      "coordinates": [
        {
          "allele": "G",
          "end": 268,
          "referenceAllele": "A",
          "start": 267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007569",
      "geneNCBI_id": 4629,
      "geneSymbol": "MYH11",
      "hgvs": [
        "NM_002474.2:c.161A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002465.1:p.Lys54Arg",
        "hgvsWellDefined": "NP_002465.1:p.Lys54Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027776"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916068946",
      "coordinates": [
        {
          "allele": "G",
          "end": 268,
          "referenceAllele": "A",
          "start": 267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007569",
      "geneNCBI_id": 4629,
      "geneSymbol": "MYH11",
      "hgvs": [
        "NM_022844.2:c.161A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_074035.1:p.Lys54Arg",
        "hgvsWellDefined": "NP_074035.1:p.Lys54Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037490"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 271,
          "referenceAllele": "A",
          "start": 270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007569",
      "geneNCBI_id": 4629,
      "geneSymbol": "MYH11",
      "hgvs": [
        "XM_011522502.1:c.161A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520804.1:p.Lys54Arg",
        "hgvsWellDefined": "XP_011520804.1:p.Lys54Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089653"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 270,
          "referenceAllele": "A",
          "start": 269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007569",
      "geneNCBI_id": 4629,
      "geneSymbol": "MYH11",
      "hgvs": [
        "XM_011522502.2:c.161A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520804.1:p.Lys54Arg",
        "hgvsWellDefined": "XP_011520804.1:p.Lys54Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546628"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 232,
          "referenceAllele": "A",
          "start": 231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007569",
      "geneNCBI_id": 4629,
      "geneSymbol": "MYH11",
      "hgvs": [
        "XM_017023250.1:c.161A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878739.1:p.Lys54Arg",
        "hgvsWellDefined": "XP_016878739.1:p.Lys54Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574043"
    },
    {
      "@id": "http://reg.genome.network/allele/PA913199660",
      "coordinates": [
        {
          "allele": "G",
          "end": 266,
          "referenceAllele": "A",
          "start": 265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007569",
      "geneNCBI_id": 4629,
      "geneSymbol": "MYH11",
      "hgvs": [
        "NM_002474.3:c.161A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002465.1:p.Lys54Arg",
        "hgvsWellDefined": "NP_002465.1:p.Lys54Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665545",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000300036.6:c.161A>G"
          },
          "RefSeq": {
            "hgvs": "NM_002474.3:c.161A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000300036.5:p.Lys54Arg"
          },
          "RefSeq": {
            "hgvs": "NP_002465.1:p.Lys54Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825391823",
      "coordinates": [
        {
          "allele": "G",
          "end": 266,
          "referenceAllele": "A",
          "start": 265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007569",
      "geneNCBI_id": 4629,
      "geneSymbol": "MYH11",
      "hgvs": [
        "NM_001040113.2:c.161A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035202.1:p.Lys54Arg",
        "hgvsWellDefined": "NP_001035202.1:p.Lys54Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675959",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000452625.7:c.161A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001040113.2:c.161A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000407821.2:p.Lys54Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001035202.1:p.Lys54Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825393769",
      "coordinates": [
        {
          "allele": "G",
          "end": 266,
          "referenceAllele": "A",
          "start": 265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007569",
      "geneNCBI_id": 4629,
      "geneSymbol": "MYH11",
      "hgvs": [
        "NM_001040114.2:c.161A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035203.1:p.Lys54Arg",
        "hgvsWellDefined": "NP_001035203.1:p.Lys54Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711627"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916068946",
      "coordinates": [
        {
          "allele": "G",
          "end": 266,
          "referenceAllele": "A",
          "start": 265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007569",
      "geneNCBI_id": 4629,
      "geneSymbol": "MYH11",
      "hgvs": [
        "NM_022844.3:c.161A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_074035.1:p.Lys54Arg",
        "hgvsWellDefined": "NP_074035.1:p.Lys54Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728607"
    }
  ],
  "type": "nucleotide"
}