{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA278625382",
  "communityStandardTitle": [
    "NM_001171.6(ABCC6):c.4004T>C (p.Leu1335Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=426818[alleleid]",
        "alleleId": 426818,
        "preferredName": "NM_001171.6(ABCC6):c.4004T>C (p.Leu1335Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/433342",
        "RCV": [
          "RCV000499319"
        ],
        "variationId": 433342
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.16248767A>G?assembly=hg19",
        "id": "chr16:g.16248767A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.16154910A>G?assembly=hg38",
        "id": "chr16:g.16154910A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/63750414",
        "rs": 63750414
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-16154910-A-G?dataset=gnomad_r4",
        "id": "16-16154910-A-G",
        "variant": "16:16154910 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 16154910,
          "referenceAllele": "A",
          "start": 16154909
        }
      ],
      "hgvs": [
        "NC_000016.10:g.16154910A>G",
        "CM000678.2:g.16154910A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 16248767,
          "referenceAllele": "A",
          "start": 16248766
        }
      ],
      "hgvs": [
        "NC_000016.9:g.16248767A>G",
        "CM000678.1:g.16248767A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 16156268,
          "referenceAllele": "A",
          "start": 16156267
        }
      ],
      "hgvs": [
        "NC_000016.8:g.16156268A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 73562,
          "referenceAllele": "T",
          "start": 73561
        }
      ],
      "hgvs": [
        "NG_007558.2:g.73562T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000648"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 73708,
          "referenceAllele": "T",
          "start": 73707
        }
      ],
      "hgvs": [
        "NG_007558.3:g.73708T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733313"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 867,
          "referenceAllele": "T",
          "start": 866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000576204.6:n.867T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826186"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4127,
          "referenceAllele": "T",
          "start": 4126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000622290.5:c.*176T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483331.2:n.*176T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826576"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4064,
          "referenceAllele": "T",
          "start": 4063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000205557.12:c.4004T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000205557.7:p.Leu1335Pro",
        "hgvsWellDefined": "ENSP00000205557.7:p.Leu1335Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740175",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000205557.12:c.4004T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001171.6:c.4004T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000205557.7:p.Leu1335Pro"
          },
          "RefSeq": {
            "hgvs": "NP_001162.5:p.Leu1335Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 818,
          "referenceAllele": "T",
          "start": 817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000640696.1:c.818T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492197.1:p.Leu273Pro",
        "hgvsWellDefined": "ENSP00000492197.1:p.Leu273Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765624"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4034,
          "referenceAllele": "T",
          "start": 4033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000205557.11:c.4004T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000205557.7:p.Leu1335Pro",
        "hgvsWellDefined": "ENSP00000205557.7:p.Leu1335Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247821"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3629,
          "referenceAllele": "T",
          "start": 3628
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000456970.6:c.3629T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405002.2:n.3629T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303727"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 867,
          "referenceAllele": "T",
          "start": 866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000576204.5:n.867T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS384394"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3866,
          "referenceAllele": "T",
          "start": 3865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000622290.4:c.*1213T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483331.1:n.*1213T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405655"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645443513",
      "coordinates": [
        {
          "allele": "C",
          "end": 4041,
          "referenceAllele": "T",
          "start": 4040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "NM_001171.5:c.4004T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001162.4:p.Leu1335Pro",
        "hgvsWellDefined": "NP_001162.4:p.Leu1335Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015270"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4201,
          "referenceAllele": "T",
          "start": 4200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_011522479.1:c.3971T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520781.1:p.Leu1324Pro",
        "hgvsWellDefined": "XP_011520781.1:p.Leu1324Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089630"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3989,
          "referenceAllele": "T",
          "start": 3988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_011522480.1:c.3662T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520782.1:p.Leu1221Pro",
        "hgvsWellDefined": "XP_011520782.1:p.Leu1221Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089631"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4174,
          "referenceAllele": "T",
          "start": 4173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_011522481.1:c.3662T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520783.1:p.Leu1221Pro",
        "hgvsWellDefined": "XP_011520783.1:p.Leu1221Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089632"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 538,
          "endIntronDirection": "-",
          "endIntronOffset": 4870,
          "referenceAllele": "A",
          "start": 538,
          "startIntronDirection": "-",
          "startIntronOffset": 4871
        }
      ],
      "hgvs": [
        "XR_933134.1:n.539-4871A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128911"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827627608",
      "coordinates": [
        {
          "allele": "C",
          "end": 4072,
          "referenceAllele": "T",
          "start": 4071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "NM_001351800.1:c.3662T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338729.1:p.Leu1221Pro",
        "hgvsWellDefined": "NP_001338729.1:p.Leu1221Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520461"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3666,
          "referenceAllele": "T",
          "start": 3665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "NR_147784.1:n.3666T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS530836"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4152,
          "referenceAllele": "T",
          "start": 4151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_011522479.2:c.3971T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520781.1:p.Leu1324Pro",
        "hgvsWellDefined": "XP_011520781.1:p.Leu1324Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546607"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4187,
          "referenceAllele": "T",
          "start": 4186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_011522481.3:c.3662T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520783.1:p.Leu1221Pro",
        "hgvsWellDefined": "XP_011520783.1:p.Leu1221Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546608"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4017,
          "referenceAllele": "T",
          "start": 4016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_017023212.1:c.3836T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878701.1:p.Leu1279Pro",
        "hgvsWellDefined": "XP_016878701.1:p.Leu1279Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574012"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4223,
          "referenceAllele": "T",
          "start": 4222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_024450261.1:c.4040T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306029.1:p.Leu1347Pro",
        "hgvsWellDefined": "XP_024306029.1:p.Leu1347Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583801"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573066743",
      "coordinates": [
        {
          "allele": "C",
          "end": 4064,
          "referenceAllele": "T",
          "start": 4063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "NM_001171.6:c.4004T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001162.5:p.Leu1335Pro",
        "hgvsWellDefined": "NP_001162.5:p.Leu1335Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713353",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000205557.12:c.4004T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001171.6:c.4004T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000205557.7:p.Leu1335Pro"
          },
          "RefSeq": {
            "hgvs": "NP_001162.5:p.Leu1335Pro"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}