{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA394876773",
  "communityStandardTitle": [
    "NM_022166.4(XYLT1):c.1510G>T (p.Glu504Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2958173[alleleid]",
        "alleleId": 2958173,
        "preferredName": "NM_022166.4(XYLT1):c.1510G>T (p.Glu504Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2794457",
        "RCV": [
          "RCV003598386"
        ],
        "variationId": 2794457
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.17235087C>A?assembly=hg19",
        "id": "chr16:g.17235087C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.17141230C>A?assembly=hg38",
        "id": "chr16:g.17141230C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2506186149",
        "rs": 2506186149
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 17141230,
          "referenceAllele": "C",
          "start": 17141229
        }
      ],
      "hgvs": [
        "NC_000016.10:g.17141230C>A",
        "CM000678.2:g.17141230C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 17235087,
          "referenceAllele": "C",
          "start": 17235086
        }
      ],
      "hgvs": [
        "NC_000016.9:g.17235087C>A",
        "CM000678.1:g.17235087C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 17142588,
          "referenceAllele": "C",
          "start": 17142587
        }
      ],
      "hgvs": [
        "NC_000016.8:g.17142588C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 334652,
          "referenceAllele": "G",
          "start": 334651
        }
      ],
      "hgvs": [
        "NG_015843.1:g.334652G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002874"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 334652,
          "referenceAllele": "G",
          "start": 334651
        }
      ],
      "hgvs": [
        "NG_015843.2:g.334652G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673648"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1674,
          "referenceAllele": "G",
          "start": 1673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015516",
      "geneNCBI_id": 64131,
      "geneSymbol": "XYLT1",
      "hgvs": [
        "ENST00000261381.7:c.1510G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261381.6:p.Glu504Ter",
        "hgvsWellDefined": "ENSP00000261381.6:p.Glu504_Arg959delinsTyrValThrPheSerThrAspAspLeuValThrLysMetLysGlnPheTyrSerTyrThrLeuLeuProAlaGluSerPhePheHisThrValLeuGluAsnSerProHisCysAspThrMetValAspAsnAsnLeuArgIleThrAsnTrpAsnArgLysLeuGlyCysLysCysGlnTyrLysHisIleValAspTrpCysGlyCysSerProAsnAspPheLysProGlnAspPheHisArgPheGlnGlnThrAlaArgProThrPhePheAlaArgLysPheGluAlaValValAsnGlnGluIleIleGlyGlnLeuAspTyrTyrLeuTyrGlyAsnTyrProAlaGlyThrProGlyLeuArgSerTyrTrpGluAsnValTyrAspGluProAspGlyIleHisSerLeuSerAspValThrLeuThrLeuTyrHisSerPheAlaArgLeuGlyLeuArgArgAlaGluThrSerLeuHisThrAspGlyGluAsnSerCysArgTyrTyrProMetGlyHisProAlaSerValHisLeuTyrPheLeuAlaAspArgPheGlnGlyPheLeuIleLysHisHisAlaThrAsnLeuAlaValSerLysLeuGluThrLeuGluThrTrpValMetProLysLysValPheLysIleAlaSerProProSerAspPheGlyArgLeuGlnPheSerGluValGlyThrAspTrpAspAlaLysGluArgLeuPheArgAsnPheGlyGlyLeuLeuGlyProMetAspGluProValGlyMetGlnLysTrpGlyLysGlyProAsnValThrValThrValIleTrpValAspProValAsnValIleAlaAlaThrTyrAspIleLeuIleGluSerThrAlaGluPheThrHisTyrLysProProLeuAsnLeuProLeuArgProGlyValTrpThrValLysIleLeuHisHisTrpValProValAlaGluThrLysPheLeuValAlaProLeuThrPheSerAsnArgGlnProIleLysProGluGluAlaLeuLysLeuHisAsnGlyProLeuArgAsnAlaTyrMetGluGlnSerPheGlnSerLeuAsnProValLeuSerLeuProIleAsnProAlaGlnValGluGlnAlaArgArgAsnAlaAlaSerThrGlyThrAlaLeuGluGlyTrpLeuAspSerLeuValGlyGlyMetTrpThrAlaMetAspIleCysAlaThrGlyProThrAlaCysProValMetGlnThrCysSerGlnThrAlaTrpSerSerPheSerProAspProLysSerGluLeuGlyAlaValLysProAspGlyArgLeuArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742128",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261381.7:c.1510G>T"
          },
          "RefSeq": {
            "hgvs": "NM_022166.4:c.1510G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261381.6:p.Glu504Ter"
          },
          "RefSeq": {
            "hgvs": "NP_071449.1:p.Glu504Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1595,
          "referenceAllele": "G",
          "start": 1594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015516",
      "geneNCBI_id": 64131,
      "geneSymbol": "XYLT1",
      "hgvs": [
        "ENST00000261381.6:c.1510G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261381.6:p.Glu504Ter",
        "hgvsWellDefined": "ENSP00000261381.6:p.Glu504_Arg959delinsTyrValThrPheSerThrAspAspLeuValThrLysMetLysGlnPheTyrSerTyrThrLeuLeuProAlaGluSerPhePheHisThrValLeuGluAsnSerProHisCysAspThrMetValAspAsnAsnLeuArgIleThrAsnTrpAsnArgLysLeuGlyCysLysCysGlnTyrLysHisIleValAspTrpCysGlyCysSerProAsnAspPheLysProGlnAspPheHisArgPheGlnGlnThrAlaArgProThrPhePheAlaArgLysPheGluAlaValValAsnGlnGluIleIleGlyGlnLeuAspTyrTyrLeuTyrGlyAsnTyrProAlaGlyThrProGlyLeuArgSerTyrTrpGluAsnValTyrAspGluProAspGlyIleHisSerLeuSerAspValThrLeuThrLeuTyrHisSerPheAlaArgLeuGlyLeuArgArgAlaGluThrSerLeuHisThrAspGlyGluAsnSerCysArgTyrTyrProMetGlyHisProAlaSerValHisLeuTyrPheLeuAlaAspArgPheGlnGlyPheLeuIleLysHisHisAlaThrAsnLeuAlaValSerLysLeuGluThrLeuGluThrTrpValMetProLysLysValPheLysIleAlaSerProProSerAspPheGlyArgLeuGlnPheSerGluValGlyThrAspTrpAspAlaLysGluArgLeuPheArgAsnPheGlyGlyLeuLeuGlyProMetAspGluProValGlyMetGlnLysTrpGlyLysGlyProAsnValThrValThrValIleTrpValAspProValAsnValIleAlaAlaThrTyrAspIleLeuIleGluSerThrAlaGluPheThrHisTyrLysProProLeuAsnLeuProLeuArgProGlyValTrpThrValLysIleLeuHisHisTrpValProValAlaGluThrLysPheLeuValAlaProLeuThrPheSerAsnArgGlnProIleLysProGluGluAlaLeuLysLeuHisAsnGlyProLeuArgAsnAlaTyrMetGluGlnSerPheGlnSerLeuAsnProValLeuSerLeuProIleAsnProAlaGlnValGluGlnAlaArgArgAsnAlaAlaSerThrGlyThrAlaLeuGluGlyTrpLeuAspSerLeuValGlyGlyMetTrpThrAlaMetAspIleCysAlaThrGlyProThrAlaCysProValMetGlnThrCysSerGlnThrAlaTrpSerSerPheSerProAspProLysSerGluLeuGlyAlaValLysProAspGlyArgLeuArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250730"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741976487",
      "coordinates": [
        {
          "allele": "T",
          "end": 1595,
          "referenceAllele": "G",
          "start": 1594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015516",
      "geneNCBI_id": 64131,
      "geneSymbol": "XYLT1",
      "hgvs": [
        "NM_022166.3:c.1510G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_071449.1:p.Glu504Ter",
        "hgvsWellDefined": "NP_071449.1:p.Glu504_Arg959delinsTyrValThrPheSerThrAspAspLeuValThrLysMetLysGlnPheTyrSerTyrThrLeuLeuProAlaGluSerPhePheHisThrValLeuGluAsnSerProHisCysAspThrMetValAspAsnAsnLeuArgIleThrAsnTrpAsnArgLysLeuGlyCysLysCysGlnTyrLysHisIleValAspTrpCysGlyCysSerProAsnAspPheLysProGlnAspPheHisArgPheGlnGlnThrAlaArgProThrPhePheAlaArgLysPheGluAlaValValAsnGlnGluIleIleGlyGlnLeuAspTyrTyrLeuTyrGlyAsnTyrProAlaGlyThrProGlyLeuArgSerTyrTrpGluAsnValTyrAspGluProAspGlyIleHisSerLeuSerAspValThrLeuThrLeuTyrHisSerPheAlaArgLeuGlyLeuArgArgAlaGluThrSerLeuHisThrAspGlyGluAsnSerCysArgTyrTyrProMetGlyHisProAlaSerValHisLeuTyrPheLeuAlaAspArgPheGlnGlyPheLeuIleLysHisHisAlaThrAsnLeuAlaValSerLysLeuGluThrLeuGluThrTrpValMetProLysLysValPheLysIleAlaSerProProSerAspPheGlyArgLeuGlnPheSerGluValGlyThrAspTrpAspAlaLysGluArgLeuPheArgAsnPheGlyGlyLeuLeuGlyProMetAspGluProValGlyMetGlnLysTrpGlyLysGlyProAsnValThrValThrValIleTrpValAspProValAsnValIleAlaAlaThrTyrAspIleLeuIleGluSerThrAlaGluPheThrHisTyrLysProProLeuAsnLeuProLeuArgProGlyValTrpThrValLysIleLeuHisHisTrpValProValAlaGluThrLysPheLeuValAlaProLeuThrPheSerAsnArgGlnProIleLysProGluGluAlaLeuLysLeuHisAsnGlyProLeuArgAsnAlaTyrMetGluGlnSerPheGlnSerLeuAsnProValLeuSerLeuProIleAsnProAlaGlnValGluGlnAlaArgArgAsnAlaAlaSerThrGlyThrAlaLeuGluGlyTrpLeuAspSerLeuValGlyGlyMetTrpThrAlaMetAspIleCysAlaThrGlyProThrAlaCysProValMetGlnThrCysSerGlnThrAlaTrpSerSerPheSerProAspProLysSerGluLeuGlyAlaValLysProAspGlyArgLeuArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037258"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1589,
          "referenceAllele": "G",
          "start": 1588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015516",
      "geneNCBI_id": 64131,
      "geneSymbol": "XYLT1",
      "hgvs": [
        "XM_011522574.1:c.1510G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520876.1:p.Glu504Ter",
        "hgvsWellDefined": "XP_011520876.1:p.Glu504_Gln772delinsTyrValThrPheSerThrAspAspLeuValThrLysMetLysGlnPheTyrSerTyrThrLeuLeuProAlaGluSerPhePheHisThrValLeuGluAsnSerProHisCysAspThrMetValAspAsnAsnLeuArgIleThrAsnTrpAsnArgLysLeuGlyCysLysCysGlnTyrLysHisIleValAspTrpCysGlyCysSerProAsnAspPheLysProGlnAspPheHisArgPheGlnGlnThrAlaArgProThrPhePheAlaArgLysPheGluAlaValValAsnGlnGluIleIleGlyGlnLeuAspTyrTyrLeuTyrGlyAsnTyrProAlaGlyThrProGlyLeuArgSerTyrTrpGluAsnValTyrAspGluProAspGlyIleHisSerLeuSerAspValThrLeuThrLeuTyrHisSerPheAlaArgLeuGlyLeuArgArgAlaGluThrSerLeuHisThrAspGlyGluAsnSerCysArgTyrTyrProMetGlyHisProAlaSerValHisLeuTyrPheLeuAlaAspArgPheGlnGlyPheLeuIleLysHisHisAlaThrAsnLeuAlaValSerLysLeuGluThrLeuGluThrTrpValMetProLysLysValPheLysIleAlaSerProProSerAspPheGlyArgLeuGlnPheSerGluValValThrLysCysLeuGlnCysAlaArgPheArgArgAspCysGlyGluProAsnLysProGlyProCysGlyHisGlyIleAlaPheGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089721"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1589,
          "referenceAllele": "G",
          "start": 1588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015516",
      "geneNCBI_id": 64131,
      "geneSymbol": "XYLT1",
      "hgvs": [
        "XM_017023539.2:c.1510G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879028.1:p.Glu504Ter",
        "hgvsWellDefined": "XP_016879028.1:p.Glu504_Arg872delinsTyrValThrPheSerThrAspAspLeuValThrLysMetLysGlnPheTyrSerTyrThrLeuLeuProAlaGluSerPhePheHisThrValLeuGluAsnSerProHisCysAspThrMetValAspAsnAsnLeuArgIleThrAsnTrpAsnArgLysLeuGlyCysLysCysGlnTyrLysHisIleValAspTrpCysGlyCysSerProAsnAspPheLysProGlnAspPheHisArgPheGlnGlnThrAlaArgProThrPhePheAlaArgLysPheGluAlaValValAsnGlnGluIleIleGlyGlnLeuAspTyrTyrLeuTyrGlyAsnTyrProAlaGlyThrProGlyLeuArgSerTyrTrpGluAsnValTyrAspGluProAspGlyIleHisSerLeuSerAspValThrLeuThrLeuTyrHisSerPheAlaArgLeuGlyLeuArgArgAlaGluThrSerLeuHisThrAspGlyGluAsnSerCysArgTyrTyrProMetGlyHisProAlaSerValHisLeuTyrPheLeuAlaAspArgPheGlnGlyPheLeuIleLysHisHisAlaThrAsnLeuAlaValSerLysLeuGluThrLeuGluThrTrpValMetProLysLysValPheLysIleAlaSerProProSerAspPheGlyArgLeuGlnPheSerGluValGlyThrAspTrpAspAlaLysGluArgLeuPheArgAsnPheGlyGlyLeuLeuGlyProMetAspGluProValGlyMetGlnLysTrpGlyLysGlyProAsnValThrValThrValIleTrpValAspProValAsnValIleAlaAlaThrTyrAspIleLeuIleGluSerThrAlaGluPheThrHisTyrLysProProLeuAsnLeuProLeuArgProGlyValTrpThrValLysIleLeuHisHisTrpValProValAlaGluThrLysPheLeuValAlaProLeuThrPheSerAsnArgGlnProIleLysProGluLysProSerAsnValLeuProAlaHisGlyAspAspValIleCysLeuGlyIleArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574283"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1589,
          "referenceAllele": "G",
          "start": 1588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015516",
      "geneNCBI_id": 64131,
      "geneSymbol": "XYLT1",
      "hgvs": [
        "XM_017023540.2:c.1510G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879029.1:p.Glu504Ter",
        "hgvsWellDefined": "XP_016879029.1:p.Glu504_His870delinsTyrValThrPheSerThrAspAspLeuValThrLysMetLysGlnPheTyrSerTyrThrLeuLeuProAlaGluSerPhePheHisThrValLeuGluAsnSerProHisCysAspThrMetValAspAsnAsnLeuArgIleThrAsnTrpAsnArgLysLeuGlyCysLysCysGlnTyrLysHisIleValAspTrpCysGlyCysSerProAsnAspPheLysProGlnAspPheHisArgPheGlnGlnThrAlaArgProThrPhePheAlaArgLysPheGluAlaValValAsnGlnGluIleIleGlyGlnLeuAspTyrTyrLeuTyrGlyAsnTyrProAlaGlyThrProGlyLeuArgSerTyrTrpGluAsnValTyrAspGluProAspGlyIleHisSerLeuSerAspValThrLeuThrLeuTyrHisSerPheAlaArgLeuGlyLeuArgArgAlaGluThrSerLeuHisThrAspGlyGluAsnSerCysArgTyrTyrProMetGlyHisProAlaSerValHisLeuTyrPheLeuAlaAspArgPheGlnGlyPheLeuIleLysHisHisAlaThrAsnLeuAlaValSerLysLeuGluThrLeuGluThrTrpValMetProLysLysValPheLysIleAlaSerProProSerAspPheGlyArgLeuGlnPheSerGluValGlyThrAspTrpAspAlaLysGluArgLeuPheArgAsnPheGlyGlyLeuLeuGlyProMetAspGluProValGlyMetGlnLysTrpGlyLysGlyProAsnValThrValThrValIleTrpValAspProValAsnValIleAlaAlaThrTyrAspIleLeuIleGluSerThrAlaGluPheThrHisTyrLysProProLeuAsnLeuProLeuArgProGlyValTrpThrValLysIleLeuHisHisTrpValProValAlaGluThrLysPheLeuValAlaProLeuThrPheSerAsnArgGlnProIleLysProGlyProSerHisAsnThrTrpGlyPheTrpGluLeuGlnPheLysArgArgHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574284"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741976487",
      "coordinates": [
        {
          "allele": "T",
          "end": 1674,
          "referenceAllele": "G",
          "start": 1673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015516",
      "geneNCBI_id": 64131,
      "geneSymbol": "XYLT1",
      "hgvs": [
        "NM_022166.4:c.1510G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_071449.1:p.Glu504Ter",
        "hgvsWellDefined": "NP_071449.1:p.Glu504_Arg959delinsTyrValThrPheSerThrAspAspLeuValThrLysMetLysGlnPheTyrSerTyrThrLeuLeuProAlaGluSerPhePheHisThrValLeuGluAsnSerProHisCysAspThrMetValAspAsnAsnLeuArgIleThrAsnTrpAsnArgLysLeuGlyCysLysCysGlnTyrLysHisIleValAspTrpCysGlyCysSerProAsnAspPheLysProGlnAspPheHisArgPheGlnGlnThrAlaArgProThrPhePheAlaArgLysPheGluAlaValValAsnGlnGluIleIleGlyGlnLeuAspTyrTyrLeuTyrGlyAsnTyrProAlaGlyThrProGlyLeuArgSerTyrTrpGluAsnValTyrAspGluProAspGlyIleHisSerLeuSerAspValThrLeuThrLeuTyrHisSerPheAlaArgLeuGlyLeuArgArgAlaGluThrSerLeuHisThrAspGlyGluAsnSerCysArgTyrTyrProMetGlyHisProAlaSerValHisLeuTyrPheLeuAlaAspArgPheGlnGlyPheLeuIleLysHisHisAlaThrAsnLeuAlaValSerLysLeuGluThrLeuGluThrTrpValMetProLysLysValPheLysIleAlaSerProProSerAspPheGlyArgLeuGlnPheSerGluValGlyThrAspTrpAspAlaLysGluArgLeuPheArgAsnPheGlyGlyLeuLeuGlyProMetAspGluProValGlyMetGlnLysTrpGlyLysGlyProAsnValThrValThrValIleTrpValAspProValAsnValIleAlaAlaThrTyrAspIleLeuIleGluSerThrAlaGluPheThrHisTyrLysProProLeuAsnLeuProLeuArgProGlyValTrpThrValLysIleLeuHisHisTrpValProValAlaGluThrLysPheLeuValAlaProLeuThrPheSerAsnArgGlnProIleLysProGluGluAlaLeuLysLeuHisAsnGlyProLeuArgAsnAlaTyrMetGluGlnSerPheGlnSerLeuAsnProValLeuSerLeuProIleAsnProAlaGlnValGluGlnAlaArgArgAsnAlaAlaSerThrGlyThrAlaLeuGluGlyTrpLeuAspSerLeuValGlyGlyMetTrpThrAlaMetAspIleCysAlaThrGlyProThrAlaCysProValMetGlnThrCysSerGlnThrAlaTrpSerSerPheSerProAspProLysSerGluLeuGlyAlaValLysProAspGlyArgLeuArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698521",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261381.7:c.1510G>T"
          },
          "RefSeq": {
            "hgvs": "NM_022166.4:c.1510G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261381.6:p.Glu504Ter"
          },
          "RefSeq": {
            "hgvs": "NP_071449.1:p.Glu504Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}