{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA338877159", "communityStandardTitle": [ "NM_000478.6(ALPL):c.351C>G (p.Tyr117Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2832923[alleleid]", "alleleId": 2832923, "preferredName": "NM_000478.6(ALPL):c.351C>G (p.Tyr117Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2676624", "RCV": [ "RCV003470148" ], "variationId": 2676624 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.21889656C>G?assembly=hg19", "id": "chr1:g.21889656C>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.21563163C>G?assembly=hg38", "id": "chr1:g.21563163C>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/889640594", "rs": 889640594 } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "G", "end": 21563163, "referenceAllele": "C", "start": 21563162 } ], "hgvs": [ "NC_000001.11:g.21563163C>G", "CM000663.2:g.21563163C>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "G", "end": 21889656, "referenceAllele": "C", "start": 21889655 } ], "hgvs": [ "NC_000001.10:g.21889656C>G", "CM000663.1:g.21889656C>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "G", "end": 21762243, "referenceAllele": "C", "start": 21762242 } ], "hgvs": [ "NC_000001.9:g.21762243C>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "G", "end": 58799, "referenceAllele": "C", "start": 58798 } ], "hgvs": [ "NG_008940.1:g.58799C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS001318" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 550, "referenceAllele": "C", "start": 549 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "ENST00000374840.8:c.351C>G" ], "proteinEffect": { "hgvs": "ENSP00000363973.3:p.Tyr117Ter", "hgvsWellDefined": "ENSP00000363973.3:p.Tyr117_Phe524delinsLeuCysGlyValLysAlaAsnGluGlyThrValGlyValSerAlaAlaThrGluArgSerArgCysAsnThrThrGlnGlyAsnGluValThrSerIleLeuArgTrpAlaLysAspAlaGlyLysSerValGlyIleValThrThrThrArgValAsnHisAlaThrProSerAlaAlaTyrAlaHisSerAlaAspArgAspTrpTyrSerAspAsnGluMetProProGluAlaLeuSerGlnGlyCysLysAspIleAlaTyrGlnLeuMetHisAsnIleArgAspIleAspValIleMetGlyGlyGlyArgLysTyrMetTyrProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS751506", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000374840.8:c.351C>G" }, "RefSeq": { "hgvs": "NM_000478.6:c.351C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000363973.3:p.Tyr117Ter" }, "RefSeq": { "hgvs": "NP_000469.3:p.Tyr117Ter" } } } }, { "coordinates": [ { "allele": "G", "end": 605, "referenceAllele": "C", "start": 604 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "ENST00000374832.5:c.351C>G" ], "proteinEffect": { "hgvs": "ENSP00000363965.1:p.Tyr117Ter", "hgvsWellDefined": "ENSP00000363965.1:p.Tyr117_Phe524delinsLeuCysGlyValLysAlaAsnGluGlyThrValGlyValSerAlaAlaThrGluArgSerArgCysAsnThrThrGlnGlyAsnGluValThrSerIleLeuArgTrpAlaLysAspAlaGlyLysSerValGlyIleValThrThrThrArgValAsnHisAlaThrProSerAlaAlaTyrAlaHisSerAlaAspArgAspTrpTyrSerAspAsnGluMetProProGluAlaLeuSerGlnGlyCysLysAspIleAlaTyrGlnLeuMetHisAsnIleArgAspIleAspValIleMetGlyGlyGlyArgLysTyrMetTyrProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS270440" }, { "coordinates": [ { "allele": "G", "end": 601, "referenceAllele": "C", "start": 600 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "ENST00000374840.7:c.351C>G" ], "proteinEffect": { "hgvs": "ENSP00000363973.3:p.Tyr117Ter", "hgvsWellDefined": "ENSP00000363973.3:p.Tyr117_Phe524delinsLeuCysGlyValLysAlaAsnGluGlyThrValGlyValSerAlaAlaThrGluArgSerArgCysAsnThrThrGlnGlyAsnGluValThrSerIleLeuArgTrpAlaLysAspAlaGlyLysSerValGlyIleValThrThrThrArgValAsnHisAlaThrProSerAlaAlaTyrAlaHisSerAlaAspArgAspTrpTyrSerAspAsnGluMetProProGluAlaLeuSerGlnGlyCysLysAspIleAlaTyrGlnLeuMetHisAsnIleArgAspIleAspValIleMetGlyGlyGlyArgLysTyrMetTyrProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS270443" }, { "coordinates": [ { "allele": "G", "end": 411, "referenceAllele": "C", "start": 410 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "ENST00000468526.1:n.411C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS311421" }, { "coordinates": [ { "allele": "G", "end": 266, "referenceAllele": "C", "start": 265 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "ENST00000539907.5:c.120C>G" ], "proteinEffect": { "hgvs": "ENSP00000437674.1:p.Tyr40Ter", "hgvsWellDefined": "ENSP00000437674.1:p.Tyr40_Phe447delinsLeuCysGlyValLysAlaAsnGluGlyThrValGlyValSerAlaAlaThrGluArgSerArgCysAsnThrThrGlnGlyAsnGluValThrSerIleLeuArgTrpAlaLysAspAlaGlyLysSerValGlyIleValThrThrThrArgValAsnHisAlaThrProSerAlaAlaTyrAlaHisSerAlaAspArgAspTrpTyrSerAspAsnGluMetProProGluAlaLeuSerGlnGlyCysLysAspIleAlaTyrGlnLeuMetHisAsnIleArgAspIleAspValIleMetGlyGlyGlyArgLysTyrMetTyrProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS362119" }, { "coordinates": [ { "allele": "G", "end": 380, "referenceAllele": "C", "start": 379 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "ENST00000540617.5:c.186C>G" ], "proteinEffect": { "hgvs": "ENSP00000442672.1:p.Tyr62Ter", "hgvsWellDefined": "ENSP00000442672.1:p.Tyr62_Phe469delinsLeuCysGlyValLysAlaAsnGluGlyThrValGlyValSerAlaAlaThrGluArgSerArgCysAsnThrThrGlnGlyAsnGluValThrSerIleLeuArgTrpAlaLysAspAlaGlyLysSerValGlyIleValThrThrThrArgValAsnHisAlaThrProSerAlaAlaTyrAlaHisSerAlaAspArgAspTrpTyrSerAspAsnGluMetProProGluAlaLeuSerGlnGlyCysLysAspIleAlaTyrGlnLeuMetHisAsnIleArgAspIleAspValIleMetGlyGlyGlyArgLysTyrMetTyrProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS362498" }, { "@id": "http://reg.genome.network/allele/PA2825185135", "coordinates": [ { "allele": "G", "end": 608, "referenceAllele": "C", "start": 607 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "NM_000478.4:c.351C>G" ], "proteinEffect": { "hgvs": "NP_000469.3:p.Tyr117Ter", "hgvsWellDefined": "NP_000469.3:p.Tyr117_Phe524delinsLeuCysGlyValLysAlaAsnGluGlyThrValGlyValSerAlaAlaThrGluArgSerArgCysAsnThrThrGlnGlyAsnGluValThrSerIleLeuArgTrpAlaLysAspAlaGlyLysSerValGlyIleValThrThrThrArgValAsnHisAlaThrProSerAlaAlaTyrAlaHisSerAlaAspArgAspTrpTyrSerAspAsnGluMetProProGluAlaLeuSerGlnGlyCysLysAspIleAlaTyrGlnLeuMetHisAsnIleArgAspIleAspValIleMetGlyGlyGlyArgLysTyrMetTyrProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006532" }, { "@id": "http://reg.genome.network/allele/PA2741833773", "coordinates": [ { "allele": "G", "end": 443, "referenceAllele": "C", "start": 442 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "NM_001127501.2:c.186C>G" ], "proteinEffect": { "hgvs": "NP_001120973.2:p.Tyr62Ter", "hgvsWellDefined": "NP_001120973.2:p.Tyr62_Phe469delinsLeuCysGlyValLysAlaAsnGluGlyThrValGlyValSerAlaAlaThrGluArgSerArgCysAsnThrThrGlnGlyAsnGluValThrSerIleLeuArgTrpAlaLysAspAlaGlyLysSerValGlyIleValThrThrThrArgValAsnHisAlaThrProSerAlaAlaTyrAlaHisSerAlaAspArgAspTrpTyrSerAspAsnGluMetProProGluAlaLeuSerGlnGlyCysLysAspIleAlaTyrGlnLeuMetHisAsnIleArgAspIleAspValIleMetGlyGlyGlyArgLysTyrMetTyrProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011630" }, { "@id": "http://reg.genome.network/allele/PA2826118704", "coordinates": [ { "allele": "G", "end": 327, "referenceAllele": "C", "start": 326 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "NM_001177520.1:c.120C>G" ], "proteinEffect": { "hgvs": "NP_001170991.1:p.Tyr40Ter", "hgvsWellDefined": "NP_001170991.1:p.Tyr40_Phe447delinsLeuCysGlyValLysAlaAsnGluGlyThrValGlyValSerAlaAlaThrGluArgSerArgCysAsnThrThrGlnGlyAsnGluValThrSerIleLeuArgTrpAlaLysAspAlaGlyLysSerValGlyIleValThrThrThrArgValAsnHisAlaThrProSerAlaAlaTyrAlaHisSerAlaAspArgAspTrpTyrSerAspAsnGluMetProProGluAlaLeuSerGlnGlyCysLysAspIleAlaTyrGlnLeuMetHisAsnIleArgAspIleAspValIleMetGlyGlyGlyArgLysTyrMetTyrProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS015742" }, { "coordinates": [ { "allele": "G", "end": 585, "referenceAllele": "C", "start": 584 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "XM_005245818.1:c.351C>G" ], "proteinEffect": { "hgvs": "XP_005245875.1:p.Tyr117Ter", "hgvsWellDefined": "XP_005245875.1:p.Tyr117_Phe524delinsLeuCysGlyValLysAlaAsnGluGlyThrValGlyValSerAlaAlaThrGluArgSerArgCysAsnThrThrGlnGlyAsnGluValThrSerIleLeuArgTrpAlaLysAspAlaGlyLysSerValGlyIleValThrThrThrArgValAsnHisAlaThrProSerAlaAlaTyrAlaHisSerAlaAspArgAspTrpTyrSerAspAsnGluMetProProGluAlaLeuSerGlnGlyCysLysAspIleAlaTyrGlnLeuMetHisAsnIleArgAspIleAspValIleMetGlyGlyGlyArgLysTyrMetTyrProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057389" }, { "coordinates": [ { "allele": "G", "end": 547, "referenceAllele": "C", "start": 546 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "XM_005245820.2:c.351C>G" ], "proteinEffect": { "hgvs": "XP_005245877.1:p.Tyr117Ter", "hgvsWellDefined": "XP_005245877.1:p.Tyr117_Thr390delinsLeuCysGlyValLysAlaAsnGluGlyThrValGlyValSerAlaAlaThrGluArgSerArgCysAsnThrThrGlnGlyAsnGluValThrSerIleLeuArgTrpAlaLysAspAlaGlyLysSerValGlyIleValThrThrThrArgValAsnHisAlaThrProSerAlaAlaTyrAlaHisSerAlaAspArgAspTrpTyrSerAspAsnGluMetProProGluAlaLeuSerGlnGlyCysLysAspIleAlaTyrGlnLeuMetHisAsnIleArgAspIleAspValIleMetGlyGlyGlyArgLysTyrMetTyrProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgPheLeuProPheGlySerLeuSerTrpGlyProGlyProGluGlyAlaSerSerProSerAlaSerLeuProArgLysAlaAsnProGlnAlaProAlaPheProArgCysValLeuMetPheProGlySerPheSerAlaGlyGlnGlyProCysArgGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057390" }, { "coordinates": [ { "allele": "G", "end": 570, "referenceAllele": "C", "start": 569 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "XM_006710546.1:c.351C>G" ], "proteinEffect": { "hgvs": "XP_006710609.1:p.Tyr117Ter", "hgvsWellDefined": "XP_006710609.1:p.Tyr117_Phe524delinsLeuCysGlyValLysAlaAsnGluGlyThrValGlyValSerAlaAlaThrGluArgSerArgCysAsnThrThrGlnGlyAsnGluValThrSerIleLeuArgTrpAlaLysAspAlaGlyLysSerValGlyIleValThrThrThrArgValAsnHisAlaThrProSerAlaAlaTyrAlaHisSerAlaAspArgAspTrpTyrSerAspAsnGluMetProProGluAlaLeuSerGlnGlyCysLysAspIleAlaTyrGlnLeuMetHisAsnIleArgAspIleAspValIleMetGlyGlyGlyArgLysTyrMetTyrProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS068677" }, { "@id": "http://reg.genome.network/allele/PA2825185135", "coordinates": [ { "allele": "G", "end": 615, "referenceAllele": "C", "start": 614 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "NM_000478.5:c.351C>G" ], "proteinEffect": { "hgvs": "NP_000469.3:p.Tyr117Ter", "hgvsWellDefined": "NP_000469.3:p.Tyr117_Phe524delinsLeuCysGlyValLysAlaAsnGluGlyThrValGlyValSerAlaAlaThrGluArgSerArgCysAsnThrThrGlnGlyAsnGluValThrSerIleLeuArgTrpAlaLysAspAlaGlyLysSerValGlyIleValThrThrThrArgValAsnHisAlaThrProSerAlaAlaTyrAlaHisSerAlaAspArgAspTrpTyrSerAspAsnGluMetProProGluAlaLeuSerGlnGlyCysLysAspIleAlaTyrGlnLeuMetHisAsnIleArgAspIleAspValIleMetGlyGlyGlyArgLysTyrMetTyrProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS510798" }, { "@id": "http://reg.genome.network/allele/PA2741833773", "coordinates": [ { "allele": "G", "end": 450, "referenceAllele": "C", "start": 449 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "NM_001127501.3:c.186C>G" ], "proteinEffect": { "hgvs": "NP_001120973.2:p.Tyr62Ter", "hgvsWellDefined": "NP_001120973.2:p.Tyr62_Phe469delinsLeuCysGlyValLysAlaAsnGluGlyThrValGlyValSerAlaAlaThrGluArgSerArgCysAsnThrThrGlnGlyAsnGluValThrSerIleLeuArgTrpAlaLysAspAlaGlyLysSerValGlyIleValThrThrThrArgValAsnHisAlaThrProSerAlaAlaTyrAlaHisSerAlaAspArgAspTrpTyrSerAspAsnGluMetProProGluAlaLeuSerGlnGlyCysLysAspIleAlaTyrGlnLeuMetHisAsnIleArgAspIleAspValIleMetGlyGlyGlyArgLysTyrMetTyrProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511411" }, { "@id": "http://reg.genome.network/allele/PA2826118704", "coordinates": [ { "allele": "G", "end": 334, "referenceAllele": "C", "start": 333 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "NM_001177520.2:c.120C>G" ], "proteinEffect": { "hgvs": "NP_001170991.1:p.Tyr40Ter", "hgvsWellDefined": "NP_001170991.1:p.Tyr40_Phe447delinsLeuCysGlyValLysAlaAsnGluGlyThrValGlyValSerAlaAlaThrGluArgSerArgCysAsnThrThrGlnGlyAsnGluValThrSerIleLeuArgTrpAlaLysAspAlaGlyLysSerValGlyIleValThrThrThrArgValAsnHisAlaThrProSerAlaAlaTyrAlaHisSerAlaAspArgAspTrpTyrSerAspAsnGluMetProProGluAlaLeuSerGlnGlyCysLysAspIleAlaTyrGlnLeuMetHisAsnIleArgAspIleAspValIleMetGlyGlyGlyArgLysTyrMetTyrProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511739" }, { "coordinates": [ { "allele": "G", "end": 564, "referenceAllele": "C", "start": 563 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "XM_006710546.3:c.351C>G" ], "proteinEffect": { "hgvs": "XP_006710609.1:p.Tyr117Ter", "hgvsWellDefined": "XP_006710609.1:p.Tyr117_Phe524delinsLeuCysGlyValLysAlaAsnGluGlyThrValGlyValSerAlaAlaThrGluArgSerArgCysAsnThrThrGlnGlyAsnGluValThrSerIleLeuArgTrpAlaLysAspAlaGlyLysSerValGlyIleValThrThrThrArgValAsnHisAlaThrProSerAlaAlaTyrAlaHisSerAlaAspArgAspTrpTyrSerAspAsnGluMetProProGluAlaLeuSerGlnGlyCysLysAspIleAlaTyrGlnLeuMetHisAsnIleArgAspIleAspValIleMetGlyGlyGlyArgLysTyrMetTyrProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS537810" }, { "coordinates": [ { "allele": "G", "end": 195, "referenceAllele": "C", "start": 194 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "XM_017000903.1:c.195C>G" ], "proteinEffect": { "hgvs": "XP_016856392.1:p.Tyr65Ter", "hgvsWellDefined": "XP_016856392.1:p.Tyr65_Phe472delinsLeuCysGlyValLysAlaAsnGluGlyThrValGlyValSerAlaAlaThrGluArgSerArgCysAsnThrThrGlnGlyAsnGluValThrSerIleLeuArgTrpAlaLysAspAlaGlyLysSerValGlyIleValThrThrThrArgValAsnHisAlaThrProSerAlaAlaTyrAlaHisSerAlaAspArgAspTrpTyrSerAspAsnGluMetProProGluAlaLeuSerGlnGlyCysLysAspIleAlaTyrGlnLeuMetHisAsnIleArgAspIleAspValIleMetGlyGlyGlyArgLysTyrMetTyrProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557171" }, { "@id": "http://reg.genome.network/allele/PA2825185135", "coordinates": [ { "allele": "G", "end": 550, "referenceAllele": "C", "start": 549 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "NM_000478.6:c.351C>G" ], "proteinEffect": { "hgvs": "NP_000469.3:p.Tyr117Ter", "hgvsWellDefined": "NP_000469.3:p.Tyr117_Phe524delinsLeuCysGlyValLysAlaAsnGluGlyThrValGlyValSerAlaAlaThrGluArgSerArgCysAsnThrThrGlnGlyAsnGluValThrSerIleLeuArgTrpAlaLysAspAlaGlyLysSerValGlyIleValThrThrThrArgValAsnHisAlaThrProSerAlaAlaTyrAlaHisSerAlaAspArgAspTrpTyrSerAspAsnGluMetProProGluAlaLeuSerGlnGlyCysLysAspIleAlaTyrGlnLeuMetHisAsnIleArgAspIleAspValIleMetGlyGlyGlyArgLysTyrMetTyrProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662456", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000374840.8:c.351C>G" }, "RefSeq": { "hgvs": "NM_000478.6:c.351C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000363973.3:p.Tyr117Ter" }, "RefSeq": { "hgvs": "NP_000469.3:p.Tyr117Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2741833773", "coordinates": [ { "allele": "G", "end": 385, "referenceAllele": "C", "start": 384 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "NM_001127501.4:c.186C>G" ], "proteinEffect": { "hgvs": "NP_001120973.2:p.Tyr62Ter", "hgvsWellDefined": "NP_001120973.2:p.Tyr62_Phe469delinsLeuCysGlyValLysAlaAsnGluGlyThrValGlyValSerAlaAlaThrGluArgSerArgCysAsnThrThrGlnGlyAsnGluValThrSerIleLeuArgTrpAlaLysAspAlaGlyLysSerValGlyIleValThrThrThrArgValAsnHisAlaThrProSerAlaAlaTyrAlaHisSerAlaAspArgAspTrpTyrSerAspAsnGluMetProProGluAlaLeuSerGlnGlyCysLysAspIleAlaTyrGlnLeuMetHisAsnIleArgAspIleAspValIleMetGlyGlyGlyArgLysTyrMetTyrProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676900" }, { "@id": "http://reg.genome.network/allele/PA2826118704", "coordinates": [ { "allele": "G", "end": 269, "referenceAllele": "C", "start": 268 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "NM_001177520.3:c.120C>G" ], "proteinEffect": { "hgvs": "NP_001170991.1:p.Tyr40Ter", "hgvsWellDefined": "NP_001170991.1:p.Tyr40_Phe447delinsLeuCysGlyValLysAlaAsnGluGlyThrValGlyValSerAlaAlaThrGluArgSerArgCysAsnThrThrGlnGlyAsnGluValThrSerIleLeuArgTrpAlaLysAspAlaGlyLysSerValGlyIleValThrThrThrArgValAsnHisAlaThrProSerAlaAlaTyrAlaHisSerAlaAspArgAspTrpTyrSerAspAsnGluMetProProGluAlaLeuSerGlnGlyCysLysAspIleAlaTyrGlnLeuMetHisAsnIleArgAspIleAspValIleMetGlyGlyGlyArgLysTyrMetTyrProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678885" }, { "@id": "http://reg.genome.network/allele/PA2828362187", "coordinates": [ { "allele": "G", "end": 614, "referenceAllele": "C", "start": 613 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "NM_001369803.2:c.351C>G" ], "proteinEffect": { "hgvs": "NP_001356732.1:p.Tyr117Ter", "hgvsWellDefined": "NP_001356732.1:p.Tyr117_Phe524delinsLeuCysGlyValLysAlaAsnGluGlyThrValGlyValSerAlaAlaThrGluArgSerArgCysAsnThrThrGlnGlyAsnGluValThrSerIleLeuArgTrpAlaLysAspAlaGlyLysSerValGlyIleValThrThrThrArgValAsnHisAlaThrProSerAlaAlaTyrAlaHisSerAlaAspArgAspTrpTyrSerAspAsnGluMetProProGluAlaLeuSerGlnGlyCysLysAspIleAlaTyrGlnLeuMetHisAsnIleArgAspIleAspValIleMetGlyGlyGlyArgLysTyrMetTyrProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691985" }, { "@id": "http://reg.genome.network/allele/PA2828362927", "coordinates": [ { "allele": "G", "end": 548, "referenceAllele": "C", "start": 547 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "NM_001369804.2:c.351C>G" ], "proteinEffect": { "hgvs": "NP_001356733.1:p.Tyr117Ter", "hgvsWellDefined": "NP_001356733.1:p.Tyr117_Phe524delinsLeuCysGlyValLysAlaAsnGluGlyThrValGlyValSerAlaAlaThrGluArgSerArgCysAsnThrThrGlnGlyAsnGluValThrSerIleLeuArgTrpAlaLysAspAlaGlyLysSerValGlyIleValThrThrThrArgValAsnHisAlaThrProSerAlaAlaTyrAlaHisSerAlaAspArgAspTrpTyrSerAspAsnGluMetProProGluAlaLeuSerGlnGlyCysLysAspIleAlaTyrGlnLeuMetHisAsnIleArgAspIleAspValIleMetGlyGlyGlyArgLysTyrMetTyrProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691986" }, { "@id": "http://reg.genome.network/allele/PA2828363609", "coordinates": [ { "allele": "G", "end": 583, "referenceAllele": "C", "start": 582 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "NM_001369805.2:c.351C>G" ], "proteinEffect": { "hgvs": "NP_001356734.1:p.Tyr117Ter", "hgvsWellDefined": "NP_001356734.1:p.Tyr117_Phe524delinsLeuCysGlyValLysAlaAsnGluGlyThrValGlyValSerAlaAlaThrGluArgSerArgCysAsnThrThrGlnGlyAsnGluValThrSerIleLeuArgTrpAlaLysAspAlaGlyLysSerValGlyIleValThrThrThrArgValAsnHisAlaThrProSerAlaAlaTyrAlaHisSerAlaAspArgAspTrpTyrSerAspAsnGluMetProProGluAlaLeuSerGlnGlyCysLysAspIleAlaTyrGlnLeuMetHisAsnIleArgAspIleAspValIleMetGlyGlyGlyArgLysTyrMetTyrProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691987" } ], "type": "nucleotide" }