{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1079139",
  "communityStandardTitle": [
    "NM_021960.5(MCL1):c.680C>T (p.Ala227Val)"
  ],
  "externalRecords": {
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-150551327-G-A",
        "id": "1-150551327-G-A",
        "variant": "1:150551327 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.150551327G>A?assembly=hg19",
        "id": "chr1:g.150551327G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.150578851G>A?assembly=hg38",
        "id": "chr1:g.150578851G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/11580946",
        "rs": 11580946
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-150551327-G-A?dataset=gnomad_r2_1",
        "id": "1-150551327-G-A",
        "variant": "1:150551327 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-150578851-G-A?dataset=gnomad_r3",
        "id": "1-150578851-G-A",
        "variant": "1:150578851 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-150578851-G-A?dataset=gnomad_r4",
        "id": "1-150578851-G-A",
        "variant": "1:150578851 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 150578851,
          "referenceAllele": "G",
          "start": 150578850
        }
      ],
      "hgvs": [
        "NC_000001.11:g.150578851G>A",
        "CM000663.2:g.150578851G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 150551327,
          "referenceAllele": "G",
          "start": 150551326
        }
      ],
      "hgvs": [
        "NC_000001.10:g.150551327G>A",
        "CM000663.1:g.150551327G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 148817951,
          "referenceAllele": "G",
          "start": 148817950
        }
      ],
      "hgvs": [
        "NC_000001.9:g.148817951G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5888,
          "referenceAllele": "C",
          "start": 5887
        }
      ],
      "hgvs": [
        "NG_029146.1:g.5888C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004277"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 760,
          "referenceAllele": "C",
          "start": 759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006943",
      "geneNCBI_id": 4170,
      "geneSymbol": "MCL1",
      "hgvs": [
        "ENST00000369026.3:c.680C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358022.2:p.Ala227Val",
        "hgvsWellDefined": "ENSP00000358022.2:p.Ala227Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750341",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000369026.3:c.680C>T"
          },
          "RefSeq": {
            "hgvs": "NM_021960.5:c.680C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000358022.2:p.Ala227Val"
          },
          "RefSeq": {
            "hgvs": "NP_068779.1:p.Ala227Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 627,
          "referenceAllele": "C",
          "start": 626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006943",
      "geneNCBI_id": 4170,
      "geneSymbol": "MCL1",
      "hgvs": [
        "ENST00000464132.2:n.627C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS756794"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 744,
          "referenceAllele": "C",
          "start": 743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006943",
      "geneNCBI_id": 4170,
      "geneSymbol": "MCL1",
      "hgvs": [
        "ENST00000676522.1:n.744C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776201"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 229,
          "referenceAllele": "C",
          "start": 228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006943",
      "geneNCBI_id": 4170,
      "geneSymbol": "MCL1",
      "hgvs": [
        "ENST00000678610.1:c.86C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503149.1:p.Ala29Val",
        "hgvsWellDefined": "ENSP00000503149.1:p.Ala29Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778251"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 760,
          "referenceAllele": "C",
          "start": 759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006943",
      "geneNCBI_id": 4170,
      "geneSymbol": "MCL1",
      "hgvs": [
        "ENST00000678770.1:c.680C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502859.1:p.Ala227Val",
        "hgvsWellDefined": "ENSP00000502859.1:p.Ala227Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778408"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 680,
          "referenceAllele": "C",
          "start": 679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006943",
      "geneNCBI_id": 4170,
      "geneSymbol": "MCL1",
      "hgvs": [
        "ENST00000307940.3:c.680C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000309973.3:p.Ala227Val",
        "hgvsWellDefined": "ENSP00000309973.3:p.Ala227Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255969"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 740,
          "referenceAllele": "C",
          "start": 739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006943",
      "geneNCBI_id": 4170,
      "geneSymbol": "MCL1",
      "hgvs": [
        "ENST00000369026.2:c.680C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358022.2:p.Ala227Val",
        "hgvsWellDefined": "ENSP00000358022.2:p.Ala227Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267321"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 429,
          "referenceAllele": "C",
          "start": 428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006943",
      "geneNCBI_id": 4170,
      "geneSymbol": "MCL1",
      "hgvs": [
        "ENST00000620947.4:c.221C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477624.1:p.Ala74Val",
        "hgvsWellDefined": "ENSP00000477624.1:p.Ala74Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405048"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 429,
          "referenceAllele": "C",
          "start": 428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006943",
      "geneNCBI_id": 4170,
      "geneSymbol": "MCL1",
      "hgvs": [
        "NM_001197320.1:c.221C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001184249.1:p.Ala74Val",
        "hgvsWellDefined": "NP_001184249.1:p.Ala74Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016749"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063884547",
      "coordinates": [
        {
          "allele": "T",
          "end": 888,
          "referenceAllele": "C",
          "start": 887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006943",
      "geneNCBI_id": 4170,
      "geneSymbol": "MCL1",
      "hgvs": [
        "NM_021960.4:c.680C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_068779.1:p.Ala227Val",
        "hgvsWellDefined": "NP_068779.1:p.Ala227Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037110"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 888,
          "referenceAllele": "C",
          "start": 887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006943",
      "geneNCBI_id": 4170,
      "geneSymbol": "MCL1",
      "hgvs": [
        "NM_182763.2:c.680C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_877495.1:p.Ala227Val",
        "hgvsWellDefined": "NP_877495.1:p.Ala227Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044118"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063884547",
      "coordinates": [
        {
          "allele": "T",
          "end": 760,
          "referenceAllele": "C",
          "start": 759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006943",
      "geneNCBI_id": 4170,
      "geneSymbol": "MCL1",
      "hgvs": [
        "NM_021960.5:c.680C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_068779.1:p.Ala227Val",
        "hgvsWellDefined": "NP_068779.1:p.Ala227Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670332",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000369026.3:c.680C>T"
          },
          "RefSeq": {
            "hgvs": "NM_021960.5:c.680C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000358022.2:p.Ala227Val"
          },
          "RefSeq": {
            "hgvs": "NP_068779.1:p.Ala227Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 301,
          "referenceAllele": "C",
          "start": 300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006943",
      "geneNCBI_id": 4170,
      "geneSymbol": "MCL1",
      "hgvs": [
        "NM_001197320.2:c.221C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001184249.1:p.Ala74Val",
        "hgvsWellDefined": "NP_001184249.1:p.Ala74Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713865"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 760,
          "referenceAllele": "C",
          "start": 759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006943",
      "geneNCBI_id": 4170,
      "geneSymbol": "MCL1",
      "hgvs": [
        "NM_182763.3:c.680C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_877495.1:p.Ala227Val",
        "hgvsWellDefined": "NP_877495.1:p.Ala227Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729791"
    }
  ],
  "type": "nucleotide"
}