{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA121665",
  "communityStandardTitle": [
    "NM_001110556.2(FLNA):c.3872C>T (p.Pro1291Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=26813[alleleid]",
        "alleleId": 26813,
        "preferredName": "NM_001110556.2(FLNA):c.3872C>T (p.Pro1291Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/11774",
        "RCV": [
          "RCV000012541",
          "RCV000869767",
          "RCV001549941",
          "RCV002313705",
          "RCV004532324"
        ],
        "variationId": 11774
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/X-153588207-G-A",
        "id": "X-153588207-G-A",
        "variant": "X:153588207 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.153588207G>A?assembly=hg19",
        "id": "chrX:g.153588207G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.154359839G>A?assembly=hg38",
        "id": "chrX:g.154359839G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/137853319",
        "rs": 137853319
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-153588207-G-A?dataset=gnomad_r2_1",
        "id": "X-153588207-G-A",
        "variant": "X:153588207 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-154359839-G-A?dataset=gnomad_r3",
        "id": "X-154359839-G-A",
        "variant": "X:154359839 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-154359839-G-A?dataset=gnomad_r4",
        "id": "X-154359839-G-A",
        "variant": "X:154359839 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 154359839,
          "referenceAllele": "G",
          "start": 154359838
        }
      ],
      "hgvs": [
        "NC_000023.11:g.154359839G>A",
        "CM000685.2:g.154359839G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 153588207,
          "referenceAllele": "G",
          "start": 153588206
        }
      ],
      "hgvs": [
        "NC_000023.10:g.153588207G>A",
        "CM000685.1:g.153588207G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 153241401,
          "referenceAllele": "G",
          "start": 153241400
        }
      ],
      "hgvs": [
        "NC_000023.9:g.153241401G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 19800,
          "referenceAllele": "C",
          "start": 19799
        }
      ],
      "hgvs": [
        "NG_011506.1:g.19800C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001773"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 19800,
          "referenceAllele": "C",
          "start": 19799
        }
      ],
      "hgvs": [
        "NG_011506.2:g.19800C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673544"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3910,
          "referenceAllele": "C",
          "start": 3909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003754",
      "geneNCBI_id": 2316,
      "geneSymbol": "FLNA",
      "hgvs": [
        "ENST00000360319.9:c.3872C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353467.4:p.Pro1291Leu",
        "hgvsWellDefined": "ENSP00000353467.4:p.Pro1291Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749301"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4117,
          "referenceAllele": "C",
          "start": 4116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003754",
      "geneNCBI_id": 2316,
      "geneSymbol": "FLNA",
      "hgvs": [
        "ENST00000369850.10:c.3872C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358866.3:p.Pro1291Leu",
        "hgvsWellDefined": "ENSP00000358866.3:p.Pro1291Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750489",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000369850.10:c.3872C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001110556.2:c.3872C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000358866.3:p.Pro1291Leu"
          },
          "RefSeq": {
            "hgvs": "NP_001104026.1:p.Pro1291Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3849,
          "referenceAllele": "C",
          "start": 3848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003754",
      "geneNCBI_id": 2316,
      "geneSymbol": "FLNA",
      "hgvs": [
        "ENST00000369856.8:c.3791C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358872.4:p.Pro1264Leu",
        "hgvsWellDefined": "ENSP00000358872.4:p.Pro1264Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750491"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3198,
          "endIntronDirection": "+",
          "endIntronOffset": 1516,
          "referenceAllele": "C",
          "start": 3198,
          "startIntronDirection": "+",
          "startIntronOffset": 1515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003754",
      "geneNCBI_id": 2316,
      "geneSymbol": "FLNA",
      "hgvs": [
        "ENST00000422373.6:c.3160+1516C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416926.2:n.3160+1516C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754924"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3929,
          "referenceAllele": "C",
          "start": 3928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003754",
      "geneNCBI_id": 2316,
      "geneSymbol": "FLNA",
      "hgvs": [
        "ENST00000610817.5:c.3929C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480593.2:n.3929C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761802"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 279,
          "endIntronDirection": "+",
          "endIntronOffset": 5597,
          "referenceAllele": "C",
          "start": 279,
          "startIntronDirection": "+",
          "startIntronOffset": 5596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003754",
      "geneNCBI_id": 2316,
      "geneSymbol": "FLNA",
      "hgvs": [
        "ENST00000673639.2:c.279+5597C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773749"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4151,
          "referenceAllele": "C",
          "start": 4150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003754",
      "geneNCBI_id": 2316,
      "geneSymbol": "FLNA",
      "hgvs": [
        "ENST00000676696.1:c.4151C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503392.1:n.4151C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776372"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3915,
          "referenceAllele": "C",
          "start": 3914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003754",
      "geneNCBI_id": 2316,
      "geneSymbol": "FLNA",
      "hgvs": [
        "ENST00000344736.8:c.3872C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358863.3:p.Pro1291Leu",
        "hgvsWellDefined": "ENSP00000358863.3:p.Pro1291Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262045"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3910,
          "referenceAllele": "C",
          "start": 3909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003754",
      "geneNCBI_id": 2316,
      "geneSymbol": "FLNA",
      "hgvs": [
        "ENST00000360319.8:c.3872C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353467.4:p.Pro1291Leu",
        "hgvsWellDefined": "ENSP00000353467.4:p.Pro1291Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265090"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4109,
          "referenceAllele": "C",
          "start": 4108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003754",
      "geneNCBI_id": 2316,
      "geneSymbol": "FLNA",
      "hgvs": [
        "ENST00000369850.7:c.3872C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358866.3:p.Pro1291Leu",
        "hgvsWellDefined": "ENSP00000358866.3:p.Pro1291Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267742"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3849,
          "referenceAllele": "C",
          "start": 3848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003754",
      "geneNCBI_id": 2316,
      "geneSymbol": "FLNA",
      "hgvs": [
        "ENST00000369856.7:c.3791C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358872.4:p.Pro1264Leu",
        "hgvsWellDefined": "ENSP00000358872.4:p.Pro1264Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267744"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3828,
          "referenceAllele": "C",
          "start": 3827
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003754",
      "geneNCBI_id": 2316,
      "geneSymbol": "FLNA",
      "hgvs": [
        "ENST00000420627.5:c.3828C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000408921.1:n.3828C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS286404"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4121,
          "referenceAllele": "C",
          "start": 4120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003754",
      "geneNCBI_id": 2316,
      "geneSymbol": "FLNA",
      "hgvs": [
        "ENST00000422373.5:c.3872C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416926.1:p.Pro1291Leu",
        "hgvsWellDefined": "ENSP00000416926.1:p.Pro1291Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287245"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4121,
          "referenceAllele": "C",
          "start": 4120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003754",
      "geneNCBI_id": 2316,
      "geneSymbol": "FLNA",
      "hgvs": [
        "ENST00000610817.4:c.3791C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480593.1:p.Pro1264Leu",
        "hgvsWellDefined": "ENSP00000480593.1:p.Pro1264Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400581"
    },
    {
      "@id": "http://reg.genome.network/allele/PA100628",
      "coordinates": [
        {
          "allele": "T",
          "end": 4121,
          "referenceAllele": "C",
          "start": 4120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003754",
      "geneNCBI_id": 2316,
      "geneSymbol": "FLNA",
      "hgvs": [
        "NM_001110556.1:c.3872C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001104026.1:p.Pro1291Leu",
        "hgvsWellDefined": "NP_001104026.1:p.Pro1291Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011169"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658808507",
      "coordinates": [
        {
          "allele": "T",
          "end": 4121,
          "referenceAllele": "C",
          "start": 4120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003754",
      "geneNCBI_id": 2316,
      "geneSymbol": "FLNA",
      "hgvs": [
        "NM_001456.3:c.3872C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001447.2:p.Pro1291Leu",
        "hgvsWellDefined": "NP_001447.2:p.Pro1291Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026838"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4116,
          "referenceAllele": "C",
          "start": 4115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003754",
      "geneNCBI_id": 2316,
      "geneSymbol": "FLNA",
      "hgvs": [
        "XM_011531127.1:c.3872C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529429.1:p.Pro1291Leu",
        "hgvsWellDefined": "XP_011529429.1:p.Pro1291Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098168"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4116,
          "referenceAllele": "C",
          "start": 4115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003754",
      "geneNCBI_id": 2316,
      "geneSymbol": "FLNA",
      "hgvs": [
        "XM_011531128.1:c.3872C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529430.1:p.Pro1291Leu",
        "hgvsWellDefined": "XP_011529430.1:p.Pro1291Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098169"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4116,
          "referenceAllele": "C",
          "start": 4115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003754",
      "geneNCBI_id": 2316,
      "geneSymbol": "FLNA",
      "hgvs": [
        "XM_011531129.1:c.3872C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529431.1:p.Pro1291Leu",
        "hgvsWellDefined": "XP_011529431.1:p.Pro1291Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098170"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4116,
          "referenceAllele": "C",
          "start": 4115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003754",
      "geneNCBI_id": 2316,
      "geneSymbol": "FLNA",
      "hgvs": [
        "XM_011531130.1:c.3872C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529432.1:p.Pro1291Leu",
        "hgvsWellDefined": "XP_011529432.1:p.Pro1291Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098171"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3915,
          "referenceAllele": "C",
          "start": 3914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003754",
      "geneNCBI_id": 2316,
      "geneSymbol": "FLNA",
      "hgvs": [
        "XM_011531131.1:c.3671C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529433.1:p.Pro1224Leu",
        "hgvsWellDefined": "XP_011529433.1:p.Pro1224Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098172"
    },
    {
      "@id": "http://reg.genome.network/allele/PA100628",
      "coordinates": [
        {
          "allele": "T",
          "end": 4117,
          "referenceAllele": "C",
          "start": 4116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003754",
      "geneNCBI_id": 2316,
      "geneSymbol": "FLNA",
      "hgvs": [
        "NM_001110556.2:c.3872C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001104026.1:p.Pro1291Leu",
        "hgvsWellDefined": "NP_001104026.1:p.Pro1291Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663488",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000369850.10:c.3872C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001110556.2:c.3872C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000358866.3:p.Pro1291Leu"
          },
          "RefSeq": {
            "hgvs": "NP_001104026.1:p.Pro1291Leu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA658808507",
      "coordinates": [
        {
          "allele": "T",
          "end": 4117,
          "referenceAllele": "C",
          "start": 4116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003754",
      "geneNCBI_id": 2316,
      "geneSymbol": "FLNA",
      "hgvs": [
        "NM_001456.4:c.3872C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001447.2:p.Pro1291Leu",
        "hgvsWellDefined": "NP_001447.2:p.Pro1291Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727183"
    }
  ],
  "type": "nucleotide"
}