{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA338878048", "communityStandardTitle": [ "NM_000478.6(ALPL):c.561C>A (p.Tyr187Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2843661[alleleid]", "alleleId": 2843661, "preferredName": "NM_000478.6(ALPL):c.561C>A (p.Tyr187Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2682631", "RCV": [ "RCV003480004" ], "variationId": 2682631 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.21890622C>A?assembly=hg19", "id": "chr1:g.21890622C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.21564129C>A?assembly=hg38", "id": "chr1:g.21564129C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/771542770", "rs": 771542770 } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 21564129, "referenceAllele": "C", "start": 21564128 } ], "hgvs": [ "NC_000001.11:g.21564129C>A", "CM000663.2:g.21564129C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 21890622, "referenceAllele": "C", "start": 21890621 } ], "hgvs": [ "NC_000001.10:g.21890622C>A", "CM000663.1:g.21890622C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 21763209, "referenceAllele": "C", "start": 21763208 } ], "hgvs": [ "NC_000001.9:g.21763209C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "A", "end": 59765, "referenceAllele": "C", "start": 59764 } ], "hgvs": [ "NG_008940.1:g.59765C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001318" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 760, "referenceAllele": "C", "start": 759 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "ENST00000374840.8:c.561C>A" ], "proteinEffect": { "hgvs": "ENSP00000363973.3:p.Tyr187Ter", "hgvsWellDefined": "ENSP00000363973.3:p.Tyr187_Phe524delinsSerAspAsnGluMetProProGluAlaLeuSerGlnGlyCysLysAspIleAlaTyrGlnLeuMetHisAsnIleArgAspIleAspValIleMetGlyGlyGlyArgLysTyrMetTyrProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS751506", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000374840.8:c.561C>A" }, "RefSeq": { "hgvs": "NM_000478.6:c.561C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000363973.3:p.Tyr187Ter" }, "RefSeq": { "hgvs": "NP_000469.3:p.Tyr187Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 815, "referenceAllele": "C", "start": 814 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "ENST00000374832.5:c.561C>A" ], "proteinEffect": { "hgvs": "ENSP00000363965.1:p.Tyr187Ter", "hgvsWellDefined": "ENSP00000363965.1:p.Tyr187_Phe524delinsSerAspAsnGluMetProProGluAlaLeuSerGlnGlyCysLysAspIleAlaTyrGlnLeuMetHisAsnIleArgAspIleAspValIleMetGlyGlyGlyArgLysTyrMetTyrProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS270440" }, { "coordinates": [ { "allele": "A", "end": 811, "referenceAllele": "C", "start": 810 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "ENST00000374840.7:c.561C>A" ], "proteinEffect": { "hgvs": "ENSP00000363973.3:p.Tyr187Ter", "hgvsWellDefined": "ENSP00000363973.3:p.Tyr187_Phe524delinsSerAspAsnGluMetProProGluAlaLeuSerGlnGlyCysLysAspIleAlaTyrGlnLeuMetHisAsnIleArgAspIleAspValIleMetGlyGlyGlyArgLysTyrMetTyrProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS270443" }, { "coordinates": [ { "allele": "A", "end": 621, "referenceAllele": "C", "start": 620 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "ENST00000468526.1:n.621C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS311421" }, { "coordinates": [ { "allele": "A", "end": 476, "referenceAllele": "C", "start": 475 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "ENST00000539907.5:c.330C>A" ], "proteinEffect": { "hgvs": "ENSP00000437674.1:p.Tyr110Ter", "hgvsWellDefined": "ENSP00000437674.1:p.Tyr110_Phe447delinsSerAspAsnGluMetProProGluAlaLeuSerGlnGlyCysLysAspIleAlaTyrGlnLeuMetHisAsnIleArgAspIleAspValIleMetGlyGlyGlyArgLysTyrMetTyrProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS362119" }, { "coordinates": [ { "allele": "A", "end": 590, "referenceAllele": "C", "start": 589 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "ENST00000540617.5:c.396C>A" ], "proteinEffect": { "hgvs": "ENSP00000442672.1:p.Tyr132Ter", "hgvsWellDefined": "ENSP00000442672.1:p.Tyr132_Phe469delinsSerAspAsnGluMetProProGluAlaLeuSerGlnGlyCysLysAspIleAlaTyrGlnLeuMetHisAsnIleArgAspIleAspValIleMetGlyGlyGlyArgLysTyrMetTyrProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS362498" }, { "@id": "http://reg.genome.network/allele/PA2825185303", "coordinates": [ { "allele": "A", "end": 818, "referenceAllele": "C", "start": 817 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "NM_000478.4:c.561C>A" ], "proteinEffect": { "hgvs": "NP_000469.3:p.Tyr187Ter", "hgvsWellDefined": "NP_000469.3:p.Tyr187_Phe524delinsSerAspAsnGluMetProProGluAlaLeuSerGlnGlyCysLysAspIleAlaTyrGlnLeuMetHisAsnIleArgAspIleAspValIleMetGlyGlyGlyArgLysTyrMetTyrProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006532" }, { "@id": "http://reg.genome.network/allele/PA2825623373", "coordinates": [ { "allele": "A", "end": 653, "referenceAllele": "C", "start": 652 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "NM_001127501.2:c.396C>A" ], "proteinEffect": { "hgvs": "NP_001120973.2:p.Tyr132Ter", "hgvsWellDefined": "NP_001120973.2:p.Tyr132_Phe469delinsSerAspAsnGluMetProProGluAlaLeuSerGlnGlyCysLysAspIleAlaTyrGlnLeuMetHisAsnIleArgAspIleAspValIleMetGlyGlyGlyArgLysTyrMetTyrProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011630" }, { "@id": "http://reg.genome.network/allele/PA2826118836", "coordinates": [ { "allele": "A", "end": 537, "referenceAllele": "C", "start": 536 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "NM_001177520.1:c.330C>A" ], "proteinEffect": { "hgvs": "NP_001170991.1:p.Tyr110Ter", "hgvsWellDefined": "NP_001170991.1:p.Tyr110_Phe447delinsSerAspAsnGluMetProProGluAlaLeuSerGlnGlyCysLysAspIleAlaTyrGlnLeuMetHisAsnIleArgAspIleAspValIleMetGlyGlyGlyArgLysTyrMetTyrProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS015742" }, { "coordinates": [ { "allele": "A", "end": 795, "referenceAllele": "C", "start": 794 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "XM_005245818.1:c.561C>A" ], "proteinEffect": { "hgvs": "XP_005245875.1:p.Tyr187Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS057389" }, { "coordinates": [ { "allele": "A", "end": 757, "referenceAllele": "C", "start": 756 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "XM_005245820.2:c.561C>A" ], "proteinEffect": { "hgvs": "XP_005245877.1:p.Tyr187Ter", "hgvsWellDefined": "XP_005245877.1:p.Tyr187_Thr390delinsSerAspAsnGluMetProProGluAlaLeuSerGlnGlyCysLysAspIleAlaTyrGlnLeuMetHisAsnIleArgAspIleAspValIleMetGlyGlyGlyArgLysTyrMetTyrProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgPheLeuProPheGlySerLeuSerTrpGlyProGlyProGluGlyAlaSerSerProSerAlaSerLeuProArgLysAlaAsnProGlnAlaProAlaPheProArgCysValLeuMetPheProGlySerPheSerAlaGlyGlnGlyProCysArgGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057390" }, { "coordinates": [ { "allele": "A", "end": 780, "referenceAllele": "C", "start": 779 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "XM_006710546.1:c.561C>A" ], "proteinEffect": { "hgvs": "XP_006710609.1:p.Tyr187Ter", "hgvsWellDefined": "XP_006710609.1:p.Tyr187_Phe524delinsSerAspAsnGluMetProProGluAlaLeuSerGlnGlyCysLysAspIleAlaTyrGlnLeuMetHisAsnIleArgAspIleAspValIleMetGlyGlyGlyArgLysTyrMetTyrProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS068677" }, { "@id": "http://reg.genome.network/allele/PA2825185303", "coordinates": [ { "allele": "A", "end": 825, "referenceAllele": "C", "start": 824 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "NM_000478.5:c.561C>A" ], "proteinEffect": { "hgvs": "NP_000469.3:p.Tyr187Ter", "hgvsWellDefined": "NP_000469.3:p.Tyr187_Phe524delinsSerAspAsnGluMetProProGluAlaLeuSerGlnGlyCysLysAspIleAlaTyrGlnLeuMetHisAsnIleArgAspIleAspValIleMetGlyGlyGlyArgLysTyrMetTyrProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS510798" }, { "@id": "http://reg.genome.network/allele/PA2825623373", "coordinates": [ { "allele": "A", "end": 660, "referenceAllele": "C", "start": 659 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "NM_001127501.3:c.396C>A" ], "proteinEffect": { "hgvs": "NP_001120973.2:p.Tyr132Ter", "hgvsWellDefined": "NP_001120973.2:p.Tyr132_Phe469delinsSerAspAsnGluMetProProGluAlaLeuSerGlnGlyCysLysAspIleAlaTyrGlnLeuMetHisAsnIleArgAspIleAspValIleMetGlyGlyGlyArgLysTyrMetTyrProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511411" }, { "@id": "http://reg.genome.network/allele/PA2826118836", "coordinates": [ { "allele": "A", "end": 544, "referenceAllele": "C", "start": 543 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "NM_001177520.2:c.330C>A" ], "proteinEffect": { "hgvs": "NP_001170991.1:p.Tyr110Ter", "hgvsWellDefined": "NP_001170991.1:p.Tyr110_Phe447delinsSerAspAsnGluMetProProGluAlaLeuSerGlnGlyCysLysAspIleAlaTyrGlnLeuMetHisAsnIleArgAspIleAspValIleMetGlyGlyGlyArgLysTyrMetTyrProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511739" }, { "coordinates": [ { "allele": "A", "end": 774, "referenceAllele": "C", "start": 773 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "XM_006710546.3:c.561C>A" ], "proteinEffect": { "hgvs": "XP_006710609.1:p.Tyr187Ter", "hgvsWellDefined": "XP_006710609.1:p.Tyr187_Phe524delinsSerAspAsnGluMetProProGluAlaLeuSerGlnGlyCysLysAspIleAlaTyrGlnLeuMetHisAsnIleArgAspIleAspValIleMetGlyGlyGlyArgLysTyrMetTyrProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS537810" }, { "coordinates": [ { "allele": "A", "end": 405, "referenceAllele": "C", "start": 404 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "XM_017000903.1:c.405C>A" ], "proteinEffect": { "hgvs": "XP_016856392.1:p.Tyr135Ter", "hgvsWellDefined": "XP_016856392.1:p.Tyr135_Phe472delinsSerAspAsnGluMetProProGluAlaLeuSerGlnGlyCysLysAspIleAlaTyrGlnLeuMetHisAsnIleArgAspIleAspValIleMetGlyGlyGlyArgLysTyrMetTyrProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557171" }, { "@id": "http://reg.genome.network/allele/PA2825185303", "coordinates": [ { "allele": "A", "end": 760, "referenceAllele": "C", "start": 759 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "NM_000478.6:c.561C>A" ], "proteinEffect": { "hgvs": "NP_000469.3:p.Tyr187Ter", "hgvsWellDefined": "NP_000469.3:p.Tyr187_Phe524delinsSerAspAsnGluMetProProGluAlaLeuSerGlnGlyCysLysAspIleAlaTyrGlnLeuMetHisAsnIleArgAspIleAspValIleMetGlyGlyGlyArgLysTyrMetTyrProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662456", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000374840.8:c.561C>A" }, "RefSeq": { "hgvs": "NM_000478.6:c.561C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000363973.3:p.Tyr187Ter" }, "RefSeq": { "hgvs": "NP_000469.3:p.Tyr187Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825623373", "coordinates": [ { "allele": "A", "end": 595, "referenceAllele": "C", "start": 594 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "NM_001127501.4:c.396C>A" ], "proteinEffect": { "hgvs": "NP_001120973.2:p.Tyr132Ter", "hgvsWellDefined": "NP_001120973.2:p.Tyr132_Phe469delinsSerAspAsnGluMetProProGluAlaLeuSerGlnGlyCysLysAspIleAlaTyrGlnLeuMetHisAsnIleArgAspIleAspValIleMetGlyGlyGlyArgLysTyrMetTyrProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676900" }, { "@id": "http://reg.genome.network/allele/PA2826118836", "coordinates": [ { "allele": "A", "end": 479, "referenceAllele": "C", "start": 478 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "NM_001177520.3:c.330C>A" ], "proteinEffect": { "hgvs": "NP_001170991.1:p.Tyr110Ter", "hgvsWellDefined": "NP_001170991.1:p.Tyr110_Phe447delinsSerAspAsnGluMetProProGluAlaLeuSerGlnGlyCysLysAspIleAlaTyrGlnLeuMetHisAsnIleArgAspIleAspValIleMetGlyGlyGlyArgLysTyrMetTyrProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678885" }, { "@id": "http://reg.genome.network/allele/PA2828362300", "coordinates": [ { "allele": "A", "end": 824, "referenceAllele": "C", "start": 823 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "NM_001369803.2:c.561C>A" ], "proteinEffect": { "hgvs": "NP_001356732.1:p.Tyr187Ter", "hgvsWellDefined": "NP_001356732.1:p.Tyr187_Phe524delinsSerAspAsnGluMetProProGluAlaLeuSerGlnGlyCysLysAspIleAlaTyrGlnLeuMetHisAsnIleArgAspIleAspValIleMetGlyGlyGlyArgLysTyrMetTyrProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691985" }, { "@id": "http://reg.genome.network/allele/PA2828363041", "coordinates": [ { "allele": "A", "end": 758, "referenceAllele": "C", "start": 757 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "NM_001369804.2:c.561C>A" ], "proteinEffect": { "hgvs": "NP_001356733.1:p.Tyr187Ter", "hgvsWellDefined": "NP_001356733.1:p.Tyr187_Phe524delinsSerAspAsnGluMetProProGluAlaLeuSerGlnGlyCysLysAspIleAlaTyrGlnLeuMetHisAsnIleArgAspIleAspValIleMetGlyGlyGlyArgLysTyrMetTyrProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691986" }, { "@id": "http://reg.genome.network/allele/PA2741874081", "coordinates": [ { "allele": "A", "end": 793, "referenceAllele": "C", "start": 792 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "NM_001369805.2:c.561C>A" ], "proteinEffect": { "hgvs": "NP_001356734.1:p.Tyr187Ter", "hgvsWellDefined": "NP_001356734.1:p.Tyr187_Phe524delinsSerAspAsnGluMetProProGluAlaLeuSerGlnGlyCysLysAspIleAlaTyrGlnLeuMetHisAsnIleArgAspIleAspValIleMetGlyGlyGlyArgLysTyrMetTyrProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691987" } ], "type": "nucleotide" }