{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA338877981", "communityStandardTitle": [ "NM_000478.6(ALPL):c.226C>T (p.Gln76Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2832885[alleleid]", "alleleId": 2832885, "preferredName": "NM_000478.6(ALPL):c.226C>T (p.Gln76Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2676587", "RCV": [ "RCV003461858" ], "variationId": 2676587 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.21887634C>T?assembly=hg19", "id": "chr1:g.21887634C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.21561141C>T?assembly=hg38", "id": "chr1:g.21561141C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1333485956", "rs": 1333485956 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-21887634-C-T?dataset=gnomad_r2_1", "id": "1-21887634-C-T", "variant": "1:21887634 C / T" } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 21561141, "referenceAllele": "C", "start": 21561140 } ], "hgvs": [ "NC_000001.11:g.21561141C>T", "CM000663.2:g.21561141C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 21887634, "referenceAllele": "C", "start": 21887633 } ], "hgvs": [ "NC_000001.10:g.21887634C>T", "CM000663.1:g.21887634C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 21760221, "referenceAllele": "C", "start": 21760220 } ], "hgvs": [ "NC_000001.9:g.21760221C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "T", "end": 56777, "referenceAllele": "C", "start": 56776 } ], "hgvs": [ "NG_008940.1:g.56777C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001318" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 425, "referenceAllele": "C", "start": 424 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "ENST00000374840.8:c.226C>T" ], "proteinEffect": { "hgvs": "ENSP00000363973.3:p.Gln76Ter", "hgvsWellDefined": "ENSP00000363973.3:p.Gln76_Phe524delinsLeuHisHisAsnProGlyGluGluThrArgLeuGluMetAspLysPheProPheValAlaLeuSerLysThrTyrAsnThrAsnAlaGlnValProAspSerAlaGlyThrAlaThrAlaTyrLeuCysGlyValLysAlaAsnGluGlyThrValGlyValSerAlaAlaThrGluArgSerArgCysAsnThrThrGlnGlyAsnGluValThrSerIleLeuArgTrpAlaLysAspAlaGlyLysSerValGlyIleValThrThrThrArgValAsnHisAlaThrProSerAlaAlaTyrAlaHisSerAlaAspArgAspTrpTyrSerAspAsnGluMetProProGluAlaLeuSerGlnGlyCysLysAspIleAlaTyrGlnLeuMetHisAsnIleArgAspIleAspValIleMetGlyGlyGlyArgLysTyrMetTyrProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS751506", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000374840.8:c.226C>T" }, "RefSeq": { "hgvs": "NM_000478.6:c.226C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000363973.3:p.Gln76Ter" }, "RefSeq": { "hgvs": "NP_000469.3:p.Gln76Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 480, "referenceAllele": "C", "start": 479 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "ENST00000374832.5:c.226C>T" ], "proteinEffect": { "hgvs": "ENSP00000363965.1:p.Gln76Ter", "hgvsWellDefined": "ENSP00000363965.1:p.Gln76_Phe524delinsLeuHisHisAsnProGlyGluGluThrArgLeuGluMetAspLysPheProPheValAlaLeuSerLysThrTyrAsnThrAsnAlaGlnValProAspSerAlaGlyThrAlaThrAlaTyrLeuCysGlyValLysAlaAsnGluGlyThrValGlyValSerAlaAlaThrGluArgSerArgCysAsnThrThrGlnGlyAsnGluValThrSerIleLeuArgTrpAlaLysAspAlaGlyLysSerValGlyIleValThrThrThrArgValAsnHisAlaThrProSerAlaAlaTyrAlaHisSerAlaAspArgAspTrpTyrSerAspAsnGluMetProProGluAlaLeuSerGlnGlyCysLysAspIleAlaTyrGlnLeuMetHisAsnIleArgAspIleAspValIleMetGlyGlyGlyArgLysTyrMetTyrProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS270440" }, { "coordinates": [ { "allele": "T", "end": 476, "referenceAllele": "C", "start": 475 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "ENST00000374840.7:c.226C>T" ], "proteinEffect": { "hgvs": "ENSP00000363973.3:p.Gln76Ter", "hgvsWellDefined": "ENSP00000363973.3:p.Gln76_Phe524delinsLeuHisHisAsnProGlyGluGluThrArgLeuGluMetAspLysPheProPheValAlaLeuSerLysThrTyrAsnThrAsnAlaGlnValProAspSerAlaGlyThrAlaThrAlaTyrLeuCysGlyValLysAlaAsnGluGlyThrValGlyValSerAlaAlaThrGluArgSerArgCysAsnThrThrGlnGlyAsnGluValThrSerIleLeuArgTrpAlaLysAspAlaGlyLysSerValGlyIleValThrThrThrArgValAsnHisAlaThrProSerAlaAlaTyrAlaHisSerAlaAspArgAspTrpTyrSerAspAsnGluMetProProGluAlaLeuSerGlnGlyCysLysAspIleAlaTyrGlnLeuMetHisAsnIleArgAspIleAspValIleMetGlyGlyGlyArgLysTyrMetTyrProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS270443" }, { "coordinates": [ { "allele": "T", "end": 286, "referenceAllele": "C", "start": 285 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "ENST00000468526.1:n.286C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS311421" }, { "coordinates": [ { "allele": "T", "end": 212, "endIntronDirection": "+", "endIntronOffset": 396, "referenceAllele": "C", "start": 212, "startIntronDirection": "+", "startIntronOffset": 395 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "ENST00000539907.5:c.66+396C>T" ], "proteinEffect": { "hgvs": "ENSP00000437674.1:n.66+396C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS362119" }, { "coordinates": [ { "allele": "T", "end": 255, "referenceAllele": "C", "start": 254 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "ENST00000540617.5:c.61C>T" ], "proteinEffect": { "hgvs": "ENSP00000442672.1:p.Gln21Ter", "hgvsWellDefined": "ENSP00000442672.1:p.Gln21_Phe469delinsLeuHisHisAsnProGlyGluGluThrArgLeuGluMetAspLysPheProPheValAlaLeuSerLysThrTyrAsnThrAsnAlaGlnValProAspSerAlaGlyThrAlaThrAlaTyrLeuCysGlyValLysAlaAsnGluGlyThrValGlyValSerAlaAlaThrGluArgSerArgCysAsnThrThrGlnGlyAsnGluValThrSerIleLeuArgTrpAlaLysAspAlaGlyLysSerValGlyIleValThrThrThrArgValAsnHisAlaThrProSerAlaAlaTyrAlaHisSerAlaAspArgAspTrpTyrSerAspAsnGluMetProProGluAlaLeuSerGlnGlyCysLysAspIleAlaTyrGlnLeuMetHisAsnIleArgAspIleAspValIleMetGlyGlyGlyArgLysTyrMetTyrProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS362498" }, { "@id": "http://reg.genome.network/allele/PA2825185028", "coordinates": [ { "allele": "T", "end": 483, "referenceAllele": "C", "start": 482 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "NM_000478.4:c.226C>T" ], "proteinEffect": { "hgvs": "NP_000469.3:p.Gln76Ter", "hgvsWellDefined": "NP_000469.3:p.Gln76_Phe524delinsLeuHisHisAsnProGlyGluGluThrArgLeuGluMetAspLysPheProPheValAlaLeuSerLysThrTyrAsnThrAsnAlaGlnValProAspSerAlaGlyThrAlaThrAlaTyrLeuCysGlyValLysAlaAsnGluGlyThrValGlyValSerAlaAlaThrGluArgSerArgCysAsnThrThrGlnGlyAsnGluValThrSerIleLeuArgTrpAlaLysAspAlaGlyLysSerValGlyIleValThrThrThrArgValAsnHisAlaThrProSerAlaAlaTyrAlaHisSerAlaAspArgAspTrpTyrSerAspAsnGluMetProProGluAlaLeuSerGlnGlyCysLysAspIleAlaTyrGlnLeuMetHisAsnIleArgAspIleAspValIleMetGlyGlyGlyArgLysTyrMetTyrProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006532" }, { "@id": "http://reg.genome.network/allele/PA2825622942", "coordinates": [ { "allele": "T", "end": 318, "referenceAllele": "C", "start": 317 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "NM_001127501.2:c.61C>T" ], "proteinEffect": { "hgvs": "NP_001120973.2:p.Gln21Ter", "hgvsWellDefined": "NP_001120973.2:p.Gln21_Phe469delinsLeuHisHisAsnProGlyGluGluThrArgLeuGluMetAspLysPheProPheValAlaLeuSerLysThrTyrAsnThrAsnAlaGlnValProAspSerAlaGlyThrAlaThrAlaTyrLeuCysGlyValLysAlaAsnGluGlyThrValGlyValSerAlaAlaThrGluArgSerArgCysAsnThrThrGlnGlyAsnGluValThrSerIleLeuArgTrpAlaLysAspAlaGlyLysSerValGlyIleValThrThrThrArgValAsnHisAlaThrProSerAlaAlaTyrAlaHisSerAlaAspArgAspTrpTyrSerAspAsnGluMetProProGluAlaLeuSerGlnGlyCysLysAspIleAlaTyrGlnLeuMetHisAsnIleArgAspIleAspValIleMetGlyGlyGlyArgLysTyrMetTyrProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011630" }, { "coordinates": [ { "allele": "T", "end": 273, "endIntronDirection": "+", "endIntronOffset": 396, "referenceAllele": "C", "start": 273, "startIntronDirection": "+", "startIntronOffset": 395 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "NM_001177520.1:c.66+396C>T" ], "proteinEffect": { "hgvs": "NP_001170991.1:n.66+396C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS015742" }, { "coordinates": [ { "allele": "T", "end": 460, "referenceAllele": "C", "start": 459 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "XM_005245818.1:c.226C>T" ], "proteinEffect": { "hgvs": "XP_005245875.1:p.Gln76Ter", "hgvsWellDefined": "XP_005245875.1:p.Gln76_Phe524delinsLeuHisHisAsnProGlyGluGluThrArgLeuGluMetAspLysPheProPheValAlaLeuSerLysThrTyrAsnThrAsnAlaGlnValProAspSerAlaGlyThrAlaThrAlaTyrLeuCysGlyValLysAlaAsnGluGlyThrValGlyValSerAlaAlaThrGluArgSerArgCysAsnThrThrGlnGlyAsnGluValThrSerIleLeuArgTrpAlaLysAspAlaGlyLysSerValGlyIleValThrThrThrArgValAsnHisAlaThrProSerAlaAlaTyrAlaHisSerAlaAspArgAspTrpTyrSerAspAsnGluMetProProGluAlaLeuSerGlnGlyCysLysAspIleAlaTyrGlnLeuMetHisAsnIleArgAspIleAspValIleMetGlyGlyGlyArgLysTyrMetTyrProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057389" }, { "coordinates": [ { "allele": "T", "end": 422, "referenceAllele": "C", "start": 421 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "XM_005245820.2:c.226C>T" ], "proteinEffect": { "hgvs": "XP_005245877.1:p.Gln76Ter", "hgvsWellDefined": "XP_005245877.1:p.Gln76_Thr390delinsLeuHisHisAsnProGlyGluGluThrArgLeuGluMetAspLysPheProPheValAlaLeuSerLysThrTyrAsnThrAsnAlaGlnValProAspSerAlaGlyThrAlaThrAlaTyrLeuCysGlyValLysAlaAsnGluGlyThrValGlyValSerAlaAlaThrGluArgSerArgCysAsnThrThrGlnGlyAsnGluValThrSerIleLeuArgTrpAlaLysAspAlaGlyLysSerValGlyIleValThrThrThrArgValAsnHisAlaThrProSerAlaAlaTyrAlaHisSerAlaAspArgAspTrpTyrSerAspAsnGluMetProProGluAlaLeuSerGlnGlyCysLysAspIleAlaTyrGlnLeuMetHisAsnIleArgAspIleAspValIleMetGlyGlyGlyArgLysTyrMetTyrProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgPheLeuProPheGlySerLeuSerTrpGlyProGlyProGluGlyAlaSerSerProSerAlaSerLeuProArgLysAlaAsnProGlnAlaProAlaPheProArgCysValLeuMetPheProGlySerPheSerAlaGlyGlnGlyProCysArgGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057390" }, { "coordinates": [ { "allele": "T", "end": 445, "referenceAllele": "C", "start": 444 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "XM_006710546.1:c.226C>T" ], "proteinEffect": { "hgvs": "XP_006710609.1:p.Gln76Ter", "hgvsWellDefined": "XP_006710609.1:p.Gln76_Phe524delinsLeuHisHisAsnProGlyGluGluThrArgLeuGluMetAspLysPheProPheValAlaLeuSerLysThrTyrAsnThrAsnAlaGlnValProAspSerAlaGlyThrAlaThrAlaTyrLeuCysGlyValLysAlaAsnGluGlyThrValGlyValSerAlaAlaThrGluArgSerArgCysAsnThrThrGlnGlyAsnGluValThrSerIleLeuArgTrpAlaLysAspAlaGlyLysSerValGlyIleValThrThrThrArgValAsnHisAlaThrProSerAlaAlaTyrAlaHisSerAlaAspArgAspTrpTyrSerAspAsnGluMetProProGluAlaLeuSerGlnGlyCysLysAspIleAlaTyrGlnLeuMetHisAsnIleArgAspIleAspValIleMetGlyGlyGlyArgLysTyrMetTyrProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS068677" }, { "@id": "http://reg.genome.network/allele/PA2825185028", "coordinates": [ { "allele": "T", "end": 490, "referenceAllele": "C", "start": 489 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "NM_000478.5:c.226C>T" ], "proteinEffect": { "hgvs": "NP_000469.3:p.Gln76Ter", "hgvsWellDefined": "NP_000469.3:p.Gln76_Phe524delinsLeuHisHisAsnProGlyGluGluThrArgLeuGluMetAspLysPheProPheValAlaLeuSerLysThrTyrAsnThrAsnAlaGlnValProAspSerAlaGlyThrAlaThrAlaTyrLeuCysGlyValLysAlaAsnGluGlyThrValGlyValSerAlaAlaThrGluArgSerArgCysAsnThrThrGlnGlyAsnGluValThrSerIleLeuArgTrpAlaLysAspAlaGlyLysSerValGlyIleValThrThrThrArgValAsnHisAlaThrProSerAlaAlaTyrAlaHisSerAlaAspArgAspTrpTyrSerAspAsnGluMetProProGluAlaLeuSerGlnGlyCysLysAspIleAlaTyrGlnLeuMetHisAsnIleArgAspIleAspValIleMetGlyGlyGlyArgLysTyrMetTyrProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS510798" }, { "@id": "http://reg.genome.network/allele/PA2825622942", "coordinates": [ { "allele": "T", "end": 325, "referenceAllele": "C", "start": 324 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "NM_001127501.3:c.61C>T" ], "proteinEffect": { "hgvs": "NP_001120973.2:p.Gln21Ter", "hgvsWellDefined": "NP_001120973.2:p.Gln21_Phe469delinsLeuHisHisAsnProGlyGluGluThrArgLeuGluMetAspLysPheProPheValAlaLeuSerLysThrTyrAsnThrAsnAlaGlnValProAspSerAlaGlyThrAlaThrAlaTyrLeuCysGlyValLysAlaAsnGluGlyThrValGlyValSerAlaAlaThrGluArgSerArgCysAsnThrThrGlnGlyAsnGluValThrSerIleLeuArgTrpAlaLysAspAlaGlyLysSerValGlyIleValThrThrThrArgValAsnHisAlaThrProSerAlaAlaTyrAlaHisSerAlaAspArgAspTrpTyrSerAspAsnGluMetProProGluAlaLeuSerGlnGlyCysLysAspIleAlaTyrGlnLeuMetHisAsnIleArgAspIleAspValIleMetGlyGlyGlyArgLysTyrMetTyrProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511411" }, { "coordinates": [ { "allele": "T", "end": 280, "endIntronDirection": "+", "endIntronOffset": 396, "referenceAllele": "C", "start": 280, "startIntronDirection": "+", "startIntronOffset": 395 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "NM_001177520.2:c.66+396C>T" ], "proteinEffect": { "hgvs": "NP_001170991.1:n.66+396C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS511739" }, { "coordinates": [ { "allele": "T", "end": 439, "referenceAllele": "C", "start": 438 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "XM_006710546.3:c.226C>T" ], "proteinEffect": { "hgvs": "XP_006710609.1:p.Gln76Ter", "hgvsWellDefined": "XP_006710609.1:p.Gln76_Phe524delinsLeuHisHisAsnProGlyGluGluThrArgLeuGluMetAspLysPheProPheValAlaLeuSerLysThrTyrAsnThrAsnAlaGlnValProAspSerAlaGlyThrAlaThrAlaTyrLeuCysGlyValLysAlaAsnGluGlyThrValGlyValSerAlaAlaThrGluArgSerArgCysAsnThrThrGlnGlyAsnGluValThrSerIleLeuArgTrpAlaLysAspAlaGlyLysSerValGlyIleValThrThrThrArgValAsnHisAlaThrProSerAlaAlaTyrAlaHisSerAlaAspArgAspTrpTyrSerAspAsnGluMetProProGluAlaLeuSerGlnGlyCysLysAspIleAlaTyrGlnLeuMetHisAsnIleArgAspIleAspValIleMetGlyGlyGlyArgLysTyrMetTyrProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS537810" }, { "coordinates": [ { "allele": "T", "end": 70, "referenceAllele": "C", "start": 69 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "XM_017000903.1:c.70C>T" ], "proteinEffect": { "hgvs": "XP_016856392.1:p.Gln24Ter", "hgvsWellDefined": "XP_016856392.1:p.Gln24_Phe472delinsLeuHisHisAsnProGlyGluGluThrArgLeuGluMetAspLysPheProPheValAlaLeuSerLysThrTyrAsnThrAsnAlaGlnValProAspSerAlaGlyThrAlaThrAlaTyrLeuCysGlyValLysAlaAsnGluGlyThrValGlyValSerAlaAlaThrGluArgSerArgCysAsnThrThrGlnGlyAsnGluValThrSerIleLeuArgTrpAlaLysAspAlaGlyLysSerValGlyIleValThrThrThrArgValAsnHisAlaThrProSerAlaAlaTyrAlaHisSerAlaAspArgAspTrpTyrSerAspAsnGluMetProProGluAlaLeuSerGlnGlyCysLysAspIleAlaTyrGlnLeuMetHisAsnIleArgAspIleAspValIleMetGlyGlyGlyArgLysTyrMetTyrProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557171" }, { "@id": "http://reg.genome.network/allele/PA2825185028", "coordinates": [ { "allele": "T", "end": 425, "referenceAllele": "C", "start": 424 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "NM_000478.6:c.226C>T" ], "proteinEffect": { "hgvs": "NP_000469.3:p.Gln76Ter", "hgvsWellDefined": "NP_000469.3:p.Gln76_Phe524delinsLeuHisHisAsnProGlyGluGluThrArgLeuGluMetAspLysPheProPheValAlaLeuSerLysThrTyrAsnThrAsnAlaGlnValProAspSerAlaGlyThrAlaThrAlaTyrLeuCysGlyValLysAlaAsnGluGlyThrValGlyValSerAlaAlaThrGluArgSerArgCysAsnThrThrGlnGlyAsnGluValThrSerIleLeuArgTrpAlaLysAspAlaGlyLysSerValGlyIleValThrThrThrArgValAsnHisAlaThrProSerAlaAlaTyrAlaHisSerAlaAspArgAspTrpTyrSerAspAsnGluMetProProGluAlaLeuSerGlnGlyCysLysAspIleAlaTyrGlnLeuMetHisAsnIleArgAspIleAspValIleMetGlyGlyGlyArgLysTyrMetTyrProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662456", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000374840.8:c.226C>T" }, "RefSeq": { "hgvs": "NM_000478.6:c.226C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000363973.3:p.Gln76Ter" }, "RefSeq": { "hgvs": "NP_000469.3:p.Gln76Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825622942", "coordinates": [ { "allele": "T", "end": 260, "referenceAllele": "C", "start": 259 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "NM_001127501.4:c.61C>T" ], "proteinEffect": { "hgvs": "NP_001120973.2:p.Gln21Ter", "hgvsWellDefined": "NP_001120973.2:p.Gln21_Phe469delinsLeuHisHisAsnProGlyGluGluThrArgLeuGluMetAspLysPheProPheValAlaLeuSerLysThrTyrAsnThrAsnAlaGlnValProAspSerAlaGlyThrAlaThrAlaTyrLeuCysGlyValLysAlaAsnGluGlyThrValGlyValSerAlaAlaThrGluArgSerArgCysAsnThrThrGlnGlyAsnGluValThrSerIleLeuArgTrpAlaLysAspAlaGlyLysSerValGlyIleValThrThrThrArgValAsnHisAlaThrProSerAlaAlaTyrAlaHisSerAlaAspArgAspTrpTyrSerAspAsnGluMetProProGluAlaLeuSerGlnGlyCysLysAspIleAlaTyrGlnLeuMetHisAsnIleArgAspIleAspValIleMetGlyGlyGlyArgLysTyrMetTyrProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676900" }, { "coordinates": [ { "allele": "T", "end": 215, "endIntronDirection": "+", "endIntronOffset": 396, "referenceAllele": "C", "start": 215, "startIntronDirection": "+", "startIntronOffset": 395 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "NM_001177520.3:c.66+396C>T" ], "proteinEffect": { "hgvs": "NP_001170991.1:n.66+396C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS678885" }, { "@id": "http://reg.genome.network/allele/PA2828362132", "coordinates": [ { "allele": "T", "end": 489, "referenceAllele": "C", "start": 488 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "NM_001369803.2:c.226C>T" ], "proteinEffect": { "hgvs": "NP_001356732.1:p.Gln76Ter", "hgvsWellDefined": "NP_001356732.1:p.Gln76_Phe524delinsLeuHisHisAsnProGlyGluGluThrArgLeuGluMetAspLysPheProPheValAlaLeuSerLysThrTyrAsnThrAsnAlaGlnValProAspSerAlaGlyThrAlaThrAlaTyrLeuCysGlyValLysAlaAsnGluGlyThrValGlyValSerAlaAlaThrGluArgSerArgCysAsnThrThrGlnGlyAsnGluValThrSerIleLeuArgTrpAlaLysAspAlaGlyLysSerValGlyIleValThrThrThrArgValAsnHisAlaThrProSerAlaAlaTyrAlaHisSerAlaAspArgAspTrpTyrSerAspAsnGluMetProProGluAlaLeuSerGlnGlyCysLysAspIleAlaTyrGlnLeuMetHisAsnIleArgAspIleAspValIleMetGlyGlyGlyArgLysTyrMetTyrProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691985" }, { "@id": "http://reg.genome.network/allele/PA2828362871", "coordinates": [ { "allele": "T", "end": 423, "referenceAllele": "C", "start": 422 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "NM_001369804.2:c.226C>T" ], "proteinEffect": { "hgvs": "NP_001356733.1:p.Gln76Ter", "hgvsWellDefined": "NP_001356733.1:p.Gln76_Phe524delinsLeuHisHisAsnProGlyGluGluThrArgLeuGluMetAspLysPheProPheValAlaLeuSerLysThrTyrAsnThrAsnAlaGlnValProAspSerAlaGlyThrAlaThrAlaTyrLeuCysGlyValLysAlaAsnGluGlyThrValGlyValSerAlaAlaThrGluArgSerArgCysAsnThrThrGlnGlyAsnGluValThrSerIleLeuArgTrpAlaLysAspAlaGlyLysSerValGlyIleValThrThrThrArgValAsnHisAlaThrProSerAlaAlaTyrAlaHisSerAlaAspArgAspTrpTyrSerAspAsnGluMetProProGluAlaLeuSerGlnGlyCysLysAspIleAlaTyrGlnLeuMetHisAsnIleArgAspIleAspValIleMetGlyGlyGlyArgLysTyrMetTyrProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691986" }, { "@id": "http://reg.genome.network/allele/PA2741874073", "coordinates": [ { "allele": "T", "end": 458, "referenceAllele": "C", "start": 457 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "NM_001369805.2:c.226C>T" ], "proteinEffect": { "hgvs": "NP_001356734.1:p.Gln76Ter", "hgvsWellDefined": "NP_001356734.1:p.Gln76_Phe524delinsLeuHisHisAsnProGlyGluGluThrArgLeuGluMetAspLysPheProPheValAlaLeuSerLysThrTyrAsnThrAsnAlaGlnValProAspSerAlaGlyThrAlaThrAlaTyrLeuCysGlyValLysAlaAsnGluGlyThrValGlyValSerAlaAlaThrGluArgSerArgCysAsnThrThrGlnGlyAsnGluValThrSerIleLeuArgTrpAlaLysAspAlaGlyLysSerValGlyIleValThrThrThrArgValAsnHisAlaThrProSerAlaAlaTyrAlaHisSerAlaAspArgAspTrpTyrSerAspAsnGluMetProProGluAlaLeuSerGlnGlyCysLysAspIleAlaTyrGlnLeuMetHisAsnIleArgAspIleAspValIleMetGlyGlyGlyArgLysTyrMetTyrProLysAsnLysThrAspValGluTyrGluSerAspGluLysAlaArgGlyThrArgLeuAspGlyLeuAspLeuValAspThrTrpLysSerPheLysProArgTyrLysHisSerHisPheIleTrpAsnArgThrGluLeuLeuThrLeuAspProHisAsnValAspTyrLeuLeuGlyLeuPheGluProGlyAspMetGlnTyrGluLeuAsnArgAsnAsnValThrAspProSerLeuSerGluMetValValValAlaIleGlnIleLeuArgLysAsnProLysGlyPhePheLeuLeuValGluGlyGlyArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691987" } ], "type": "nucleotide" }