{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA16619356", "communityStandardTitle": [ "NM_000543.5(SMPD1):c.649G>T (p.Glu217Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=408398[alleleid]", "alleleId": 408398, "preferredName": "NM_000543.5(SMPD1):c.649G>T (p.Glu217Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/421981", "RCV": [ "RCV000481836" ], "variationId": 421981 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.6412944G>T?assembly=hg19", "id": "chr11:g.6412944G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.6391714G>T?assembly=hg38", "id": "chr11:g.6391714G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1064795484", "rs": 1064795484 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-6391714-G-T?dataset=gnomad_r4", "id": "11-6391714-G-T", "variant": "11:6391714 G / T" } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 6391714, "referenceAllele": "G", "start": 6391713 } ], "hgvs": [ "NC_000011.10:g.6391714G>T", "CM000673.2:g.6391714G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000059" }, { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 6412944, "referenceAllele": "G", "start": 6412943 } ], "hgvs": [ "NC_000011.9:g.6412944G>T", "CM000673.1:g.6412944G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000035" }, { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 6369520, "referenceAllele": "G", "start": 6369519 } ], "hgvs": [ "NC_000011.8:g.6369520G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000011" }, { "coordinates": [ { "allele": "T", "end": 6290, "referenceAllele": "G", "start": 6289 } ], "hgvs": [ "NG_011780.1:g.6290G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001964" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 774, "referenceAllele": "G", "start": 773 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "ENST00000342245.9:c.649G>T" ], "proteinEffect": { "hgvs": "ENSP00000340409.4:p.Glu217Ter", "hgvsWellDefined": "ENSP00000340409.4:p.Glu217_Cys631delinsGlyThrAspProAspCysAlaAspProLeuCysCysArgArgGlySerGlyLeuProProAlaSerArgProGlyAlaGlyTyrTrpGlyGluTyrSerLysCysAspLeuProLeuArgThrLeuGluSerLeuLeuSerGlyLeuGlyProAlaGlyProPheAspMetValTyrTrpThrGlyAspIleProAlaHisAspValTrpHisGlnThrArgGlnAspGlnLeuArgAlaLeuThrThrValThrAlaLeuValArgLysPheLeuGlyProValProValTyrProAlaValGlyAsnHisGluSerThrProValAsnSerPheProProProPheIleGluGlyAsnHisSerSerArgTrpLeuTyrGluAlaMetAlaLysAlaTrpGluProTrpLeuProAlaGluAlaLeuArgThrLeuArgIleGlyGlyPheTyrAlaLeuSerProTyrProGlyLeuArgLeuIleSerLeuAsnMetAsnPheCysSerArgGluAsnPheTrpLeuLeuIleAsnSerThrAspProAlaGlyGlnLeuGlnTrpLeuValGlyGluLeuGlnAlaAlaGluAspArgGlyAspLysValHisIleIleGlyHisIleProProGlyHisCysLeuLysSerTrpSerTrpAsnTyrTyrArgIleValAlaArgTyrGluAsnThrLeuAlaAlaGlnPhePheGlyHisThrHisValAspGluPheGluValPheTyrAspGluGluThrLeuSerArgProLeuAlaValAlaPheLeuAlaProSerAlaThrThrTyrIleGlyLeuAsnProGlyTyrArgValTyrGlnIleAspGlyAsnTyrSerGlySerSerHisValValLeuAspHisGluThrTyrIleLeuAsnLeuThrGlnAlaAsnIleProGlyAlaIleProHisTrpGlnLeuLeuTyrArgAlaArgGluThrTyrGlyLeuProAsnThrLeuProThrAlaTrpHisAsnLeuValTyrArgMetArgGlyAspMetGlnLeuPheGlnThrPheTrpPheLeuTyrHisLysGlyHisProProSerGluProCysGlyThrProCysArgLeuAlaThrLeuCysAlaGlnLeuSerAlaArgAlaAspSerProAlaLeuCysArgHisLeuMetProAspGlySerLeuProGluAlaGlnSerLeuTrpProArgProLeuPheCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS748051", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000342245.9:c.649G>T" }, "RefSeq": { "hgvs": "NM_000543.5:c.649G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000340409.4:p.Glu217Ter" }, "RefSeq": { "hgvs": "NP_000534.3:p.Glu217Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 817, "referenceAllele": "G", "start": 816 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "ENST00000342245.8:c.649G>T" ], "proteinEffect": { "hgvs": "ENSP00000340409.4:p.Glu217Ter", "hgvsWellDefined": "ENSP00000340409.4:p.Glu217_Cys631delinsGlyThrAspProAspCysAlaAspProLeuCysCysArgArgGlySerGlyLeuProProAlaSerArgProGlyAlaGlyTyrTrpGlyGluTyrSerLysCysAspLeuProLeuArgThrLeuGluSerLeuLeuSerGlyLeuGlyProAlaGlyProPheAspMetValTyrTrpThrGlyAspIleProAlaHisAspValTrpHisGlnThrArgGlnAspGlnLeuArgAlaLeuThrThrValThrAlaLeuValArgLysPheLeuGlyProValProValTyrProAlaValGlyAsnHisGluSerThrProValAsnSerPheProProProPheIleGluGlyAsnHisSerSerArgTrpLeuTyrGluAlaMetAlaLysAlaTrpGluProTrpLeuProAlaGluAlaLeuArgThrLeuArgIleGlyGlyPheTyrAlaLeuSerProTyrProGlyLeuArgLeuIleSerLeuAsnMetAsnPheCysSerArgGluAsnPheTrpLeuLeuIleAsnSerThrAspProAlaGlyGlnLeuGlnTrpLeuValGlyGluLeuGlnAlaAlaGluAspArgGlyAspLysValHisIleIleGlyHisIleProProGlyHisCysLeuLysSerTrpSerTrpAsnTyrTyrArgIleValAlaArgTyrGluAsnThrLeuAlaAlaGlnPhePheGlyHisThrHisValAspGluPheGluValPheTyrAspGluGluThrLeuSerArgProLeuAlaValAlaPheLeuAlaProSerAlaThrThrTyrIleGlyLeuAsnProGlyTyrArgValTyrGlnIleAspGlyAsnTyrSerGlySerSerHisValValLeuAspHisGluThrTyrIleLeuAsnLeuThrGlnAlaAsnIleProGlyAlaIleProHisTrpGlnLeuLeuTyrArgAlaArgGluThrTyrGlyLeuProAsnThrLeuProThrAlaTrpHisAsnLeuValTyrArgMetArgGlyAspMetGlnLeuPheGlnThrPheTrpPheLeuTyrHisLysGlyHisProProSerGluProCysGlyThrProCysArgLeuAlaThrLeuCysAlaGlnLeuSerAlaArgAlaAspSerProAlaLeuCysArgHisLeuMetProAspGlySerLeuProGluAlaGlnSerLeuTrpProArgProLeuPheCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS261512" }, { "coordinates": [ { "allele": "T", "end": 770, "referenceAllele": "G", "start": 769 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "ENST00000527275.5:c.646G>T" ], "proteinEffect": { "hgvs": "ENSP00000435350.1:p.Glu216Ter", "hgvsWellDefined": "ENSP00000435350.1:p.Glu216_Cys630delinsGlyThrAspProAspCysAlaAspProLeuCysCysArgArgGlySerGlyLeuProProAlaSerArgProGlyAlaGlyTyrTrpGlyGluTyrSerLysCysAspLeuProLeuArgThrLeuGluSerLeuLeuSerGlyLeuGlyProAlaGlyProPheAspMetValTyrTrpThrGlyAspIleProAlaHisAspValTrpHisGlnThrArgGlnAspGlnLeuArgAlaLeuThrThrValThrAlaLeuValArgLysPheLeuGlyProValProValTyrProAlaValGlyAsnHisGluSerThrProValAsnSerPheProProProPheIleGluGlyAsnHisSerSerArgTrpLeuTyrGluAlaMetAlaLysAlaTrpGluProTrpLeuProAlaGluAlaLeuArgThrLeuArgIleGlyGlyPheTyrAlaLeuSerProTyrProGlyLeuArgLeuIleSerLeuAsnMetAsnPheCysSerArgGluAsnPheTrpLeuLeuIleAsnSerThrAspProAlaGlyGlnLeuGlnTrpLeuValGlyGluLeuGlnAlaAlaGluAspArgGlyAspLysValHisIleIleGlyHisIleProProGlyHisCysLeuLysSerTrpSerTrpAsnTyrTyrArgIleValAlaArgTyrGluAsnThrLeuAlaAlaGlnPhePheGlyHisThrHisValAspGluPheGluValPheTyrAspGluGluThrLeuSerArgProLeuAlaValAlaPheLeuAlaProSerAlaThrThrTyrIleGlyLeuAsnProGlyTyrArgValTyrGlnIleAspGlyAsnTyrSerGlySerSerHisValValLeuAspHisGluThrTyrIleLeuAsnLeuThrGlnAlaAsnIleProGlyAlaIleProHisTrpGlnLeuLeuTyrArgAlaArgGluThrTyrGlyLeuProAsnThrLeuProThrAlaTrpHisAsnLeuValTyrArgMetArgGlyAspMetGlnLeuPheGlnThrPheTrpPheLeuTyrHisLysGlyHisProProSerGluProCysGlyThrProCysArgLeuAlaThrLeuCysAlaGlnLeuSerAlaArgAlaAspSerProAlaLeuCysArgHisLeuMetProAspGlySerLeuProGluAlaGlnSerLeuTrpProArgProLeuPheCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS353010" }, { "coordinates": [ { "allele": "T", "end": 194, "endIntronDirection": "-", "endIntronOffset": 75, "referenceAllele": "G", "start": 194, "startIntronDirection": "-", "startIntronOffset": 76 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "ENST00000530395.1:c.-95-76G>T" ], "proteinEffect": { "hgvs": "ENSP00000431479.1:n.-95-76G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS355658" }, { "coordinates": [ { "allele": "T", "end": 455, "endIntronDirection": "+", "endIntronOffset": 211, "referenceAllele": "G", "start": 455, "startIntronDirection": "+", "startIntronOffset": 210 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "ENST00000531303.5:c.438+211G>T" ], "proteinEffect": { "hgvs": "ENSP00000432625.1:n.438+211G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS356421" }, { "coordinates": [ { "allele": "T", "end": 745, "referenceAllele": "G", "start": 744 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "ENST00000533123.5:c.649G>T" ], "proteinEffect": { "hgvs": "ENSP00000435950.1:p.Glu217Ter", "hgvsWellDefined": "ENSP00000435950.1:p.Glu217_Ile366delinsGlyThrAspProAspCysAlaAspProLeuCysCysArgArgGlySerGlyLeuProProAlaSerArgProGlyAlaGlyTyrTrpGlyGluTyrSerLysCysAspLeuProLeuArgThrLeuGluSerLeuLeuSerGlyLeuGlyProAlaGlyProPheAspMetValTyrTrpThrGlyAspIleProAlaHisAspValTrpHisGlnThrArgGlnAspGlnLeuArgAlaLeuThrThrValThrAlaLeuValArgLysPheLeuGlyProValProValTyrProAlaValGlyAsnHisGluSerThrProValAsnSerPheProProProPheIleGluGlyAsnHisSerSerArgTrpLeuTyrGluAlaMetAlaLysAlaTrpGluProTrpLeuProAlaGluAlaLeuArgThrLeuArgCysIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS357940" }, { "coordinates": [ { "allele": "T", "end": 374, "endIntronDirection": "-", "endIntronOffset": 291, "referenceAllele": "G", "start": 374, "startIntronDirection": "-", "startIntronOffset": 292 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "ENST00000533196.1:n.375-292G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS358006" }, { "coordinates": [ { "allele": "T", "end": 775, "referenceAllele": "G", "start": 774 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "ENST00000534405.5:c.649G>T" ], "proteinEffect": { "hgvs": "ENSP00000434353.1:p.Glu217Ter", "hgvsWellDefined": "ENSP00000434353.1:p.Glu217_Pro402delinsGlyThrAspProAspCysAlaAspProLeuCysCysArgArgGlySerGlyLeuProProAlaSerArgProGlyAlaGlyTyrTrpGlyGluTyrSerLysCysAspLeuProLeuArgThrLeuGluSerLeuLeuSerGlyLeuGlyProAlaGlyProPheAspMetValTyrTrpThrGlyAspIleProAlaHisAspValTrpHisGlnThrArgGlnAspGlnLeuArgAlaLeuThrThrValThrAlaLeuValArgLysPheLeuGlyProValProValTyrProAlaValGlyAsnHisGluSerThrProValAsnSerPheProProProPheIleGluGlyAsnHisSerSerArgTrpLeuTyrGluAlaMetAlaLysAlaTrpGluProTrpLeuProAlaGluAlaLeuArgThrLeuArgTyrLeuSerSerValGluThrGlnGluGlyLysArgLysAsnTrpGlyValLeuCysSerPheProIleProArgSerProProHisLeuSerGlnTyrGluPheLeuPheProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS359023" }, { "@id": "http://reg.genome.network/allele/PA645503892", "coordinates": [ { "allele": "T", "end": 834, "referenceAllele": "G", "start": 833 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "NM_000543.4:c.649G>T" ], "proteinEffect": { "hgvs": "NP_000534.3:p.Glu217Ter", "hgvsWellDefined": "NP_000534.3:p.Glu217_Cys631delinsGlyThrAspProAspCysAlaAspProLeuCysCysArgArgGlySerGlyLeuProProAlaSerArgProGlyAlaGlyTyrTrpGlyGluTyrSerLysCysAspLeuProLeuArgThrLeuGluSerLeuLeuSerGlyLeuGlyProAlaGlyProPheAspMetValTyrTrpThrGlyAspIleProAlaHisAspValTrpHisGlnThrArgGlnAspGlnLeuArgAlaLeuThrThrValThrAlaLeuValArgLysPheLeuGlyProValProValTyrProAlaValGlyAsnHisGluSerThrProValAsnSerPheProProProPheIleGluGlyAsnHisSerSerArgTrpLeuTyrGluAlaMetAlaLysAlaTrpGluProTrpLeuProAlaGluAlaLeuArgThrLeuArgIleGlyGlyPheTyrAlaLeuSerProTyrProGlyLeuArgLeuIleSerLeuAsnMetAsnPheCysSerArgGluAsnPheTrpLeuLeuIleAsnSerThrAspProAlaGlyGlnLeuGlnTrpLeuValGlyGluLeuGlnAlaAlaGluAspArgGlyAspLysValHisIleIleGlyHisIleProProGlyHisCysLeuLysSerTrpSerTrpAsnTyrTyrArgIleValAlaArgTyrGluAsnThrLeuAlaAlaGlnPhePheGlyHisThrHisValAspGluPheGluValPheTyrAspGluGluThrLeuSerArgProLeuAlaValAlaPheLeuAlaProSerAlaThrThrTyrIleGlyLeuAsnProGlyTyrArgValTyrGlnIleAspGlyAsnTyrSerGlySerSerHisValValLeuAspHisGluThrTyrIleLeuAsnLeuThrGlnAlaAsnIleProGlyAlaIleProHisTrpGlnLeuLeuTyrArgAlaArgGluThrTyrGlyLeuProAsnThrLeuProThrAlaTrpHisAsnLeuValTyrArgMetArgGlyAspMetGlnLeuPheGlnThrPheTrpPheLeuTyrHisLysGlyHisProProSerGluProCysGlyThrProCysArgLeuAlaThrLeuCysAlaGlnLeuSerAlaArgAlaAspSerProAlaLeuCysArgHisLeuMetProAspGlySerLeuProGluAlaGlnSerLeuTrpProArgProLeuPheCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006601" }, { "@id": "http://reg.genome.network/allele/PA2825288362", "coordinates": [ { "allele": "T", "end": 831, "referenceAllele": "G", "start": 830 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "NM_001007593.2:c.646G>T" ], "proteinEffect": { "hgvs": "NP_001007594.2:p.Glu216Ter", "hgvsWellDefined": "NP_001007594.2:p.Glu216_Cys630delinsGlyThrAspProAspCysAlaAspProLeuCysCysArgArgGlySerGlyLeuProProAlaSerArgProGlyAlaGlyTyrTrpGlyGluTyrSerLysCysAspLeuProLeuArgThrLeuGluSerLeuLeuSerGlyLeuGlyProAlaGlyProPheAspMetValTyrTrpThrGlyAspIleProAlaHisAspValTrpHisGlnThrArgGlnAspGlnLeuArgAlaLeuThrThrValThrAlaLeuValArgLysPheLeuGlyProValProValTyrProAlaValGlyAsnHisGluSerThrProValAsnSerPheProProProPheIleGluGlyAsnHisSerSerArgTrpLeuTyrGluAlaMetAlaLysAlaTrpGluProTrpLeuProAlaGluAlaLeuArgThrLeuArgIleGlyGlyPheTyrAlaLeuSerProTyrProGlyLeuArgLeuIleSerLeuAsnMetAsnPheCysSerArgGluAsnPheTrpLeuLeuIleAsnSerThrAspProAlaGlyGlnLeuGlnTrpLeuValGlyGluLeuGlnAlaAlaGluAspArgGlyAspLysValHisIleIleGlyHisIleProProGlyHisCysLeuLysSerTrpSerTrpAsnTyrTyrArgIleValAlaArgTyrGluAsnThrLeuAlaAlaGlnPhePheGlyHisThrHisValAspGluPheGluValPheTyrAspGluGluThrLeuSerArgProLeuAlaValAlaPheLeuAlaProSerAlaThrThrTyrIleGlyLeuAsnProGlyTyrArgValTyrGlnIleAspGlyAsnTyrSerGlySerSerHisValValLeuAspHisGluThrTyrIleLeuAsnLeuThrGlnAlaAsnIleProGlyAlaIleProHisTrpGlnLeuLeuTyrArgAlaArgGluThrTyrGlyLeuProAsnThrLeuProThrAlaTrpHisAsnLeuValTyrArgMetArgGlyAspMetGlnLeuPheGlnThrPheTrpPheLeuTyrHisLysGlyHisProProSerGluProCysGlyThrProCysArgLeuAlaThrLeuCysAlaGlnLeuSerAlaArgAlaAspSerProAlaLeuCysArgHisLeuMetProAspGlySerLeuProGluAlaGlnSerLeuTrpProArgProLeuPheCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS007956" }, { "coordinates": [ { "allele": "T", "end": 947, "referenceAllele": "G", "start": 946 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "XM_005253075.3:c.649G>T" ], "proteinEffect": { "hgvs": "XP_005253132.1:p.Glu217Ter", "hgvsWellDefined": "XP_005253132.1:p.Glu217_Lys508delinsGlyThrAspProAspCysAlaAspProLeuCysCysArgArgGlySerGlyLeuProProAlaSerArgProGlyAlaGlyTyrTrpGlyGluTyrSerLysCysAspLeuProLeuArgThrLeuGluSerLeuLeuSerGlyLeuGlyProAlaGlyProPheAspMetValTyrTrpThrGlyAspIleProAlaHisAspValTrpHisGlnThrArgGlnAspGlnLeuArgAlaLeuThrThrValThrAlaLeuValArgLysPheLeuGlyProValProValTyrProAlaValGlyAsnHisGluSerThrProValAsnSerPheProProProPheIleGluGlyAsnHisSerSerArgTrpLeuTyrGluAlaMetAlaLysAlaTrpGluProTrpLeuProAlaGluAlaLeuArgThrLeuArgIleGlyGlyPheTyrAlaLeuSerProTyrProGlyLeuArgLeuIleSerLeuAsnMetAsnPheCysSerArgGluAsnPheTrpLeuLeuIleAsnSerThrAspProAlaGlyGlnLeuGlnTrpLeuValGlyGluLeuGlnAlaAlaGluAspArgGlyAspLysValHisIleIleGlyHisIleProProGlyHisCysLeuLysSerTrpSerTrpAsnTyrTyrArgIleValAlaArgTyrGluAsnThrLeuAlaAlaGlnPhePheGlyHisThrHisValAspGluPheGluValPheTyrAspGluGluThrLeuSerArgProLeuAlaValAlaPheLeuAlaProSerAlaThrThrTyrIleGlyLeuAsnProValSerProThrSerLeuGlnValThrValCysThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS060144" }, { "coordinates": [ { "allele": "T", "end": 947, "referenceAllele": "G", "start": 946 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "XM_011520303.1:c.649G>T" ], "proteinEffect": { "hgvs": "XP_011518605.1:p.Glu217Ter", "hgvsWellDefined": "XP_011518605.1:p.Glu217_Cys587delinsGlyThrAspProAspCysAlaAspProLeuCysCysArgArgGlySerGlyLeuProProAlaSerArgProGlyAlaGlyTyrTrpGlyGluTyrSerLysCysAspLeuProLeuArgThrLeuGluSerLeuLeuSerGlyLeuGlyProAlaGlyProPheAspMetValTyrTrpThrGlyAspIleProAlaHisAspValTrpHisGlnThrArgGlnAspGlnLeuArgAlaLeuThrThrValThrAlaLeuValArgLysPheLeuGlyProValProValTyrProAlaValGlyAsnHisGluSerThrProValAsnSerPheProProProPheIleGluGlyAsnHisSerSerArgTrpLeuTyrGluAlaMetAlaLysAlaTrpGluProTrpLeuProAlaGluAlaLeuArgThrLeuArgTyrLeuSerSerValGluThrGlnGluGlyLysArgLysValHisIleIleGlyHisIleProProGlyHisCysLeuLysSerTrpSerTrpAsnTyrTyrArgIleValAlaArgTyrGluAsnThrLeuAlaAlaGlnPhePheGlyHisThrHisValAspGluPheGluValPheTyrAspGluGluThrLeuSerArgProLeuAlaValAlaPheLeuAlaProSerAlaThrThrTyrIleGlyLeuAsnProGlyTyrArgValTyrGlnIleAspGlyAsnTyrSerGlySerSerHisValValLeuAspHisGluThrTyrIleLeuAsnLeuThrGlnAlaAsnIleProGlyAlaIleProHisTrpGlnLeuLeuTyrArgAlaArgGluThrTyrGlyLeuProAsnThrLeuProThrAlaTrpHisAsnLeuValTyrArgMetArgGlyAspMetGlnLeuPheGlnThrPheTrpPheLeuTyrHisLysGlyHisProProSerGluProCysGlyThrProCysArgLeuAlaThrLeuCysAlaGlnLeuSerAlaArgAlaAspSerProAlaLeuCysArgHisLeuMetProAspGlySerLeuProGluAlaGlnSerLeuTrpProArgProLeuPheCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087471" }, { "coordinates": [ { "allele": "T", "end": 947, "referenceAllele": "G", "start": 946 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "XM_011520304.1:c.649G>T" ], "proteinEffect": { "hgvs": "XP_011518606.1:p.Glu217Ter", "hgvsWellDefined": "XP_011518606.1:p.Glu217_Lys464delinsGlyThrAspProAspCysAlaAspProLeuCysCysArgArgGlySerGlyLeuProProAlaSerArgProGlyAlaGlyTyrTrpGlyGluTyrSerLysCysAspLeuProLeuArgThrLeuGluSerLeuLeuSerGlyLeuGlyProAlaGlyProPheAspMetValTyrTrpThrGlyAspIleProAlaHisAspValTrpHisGlnThrArgGlnAspGlnLeuArgAlaLeuThrThrValThrAlaLeuValArgLysPheLeuGlyProValProValTyrProAlaValGlyAsnHisGluSerThrProValAsnSerPheProProProPheIleGluGlyAsnHisSerSerArgTrpLeuTyrGluAlaMetAlaLysAlaTrpGluProTrpLeuProAlaGluAlaLeuArgThrLeuArgTyrLeuSerSerValGluThrGlnGluGlyLysArgLysValHisIleIleGlyHisIleProProGlyHisCysLeuLysSerTrpSerTrpAsnTyrTyrArgIleValAlaArgTyrGluAsnThrLeuAlaAlaGlnPhePheGlyHisThrHisValAspGluPheGluValPheTyrAspGluGluThrLeuSerArgProLeuAlaValAlaPheLeuAlaProSerAlaThrThrTyrIleGlyLeuAsnProValSerProThrSerLeuGlnValThrValCysThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087472" }, { "coordinates": [ { "allele": "T", "end": 947, "referenceAllele": "G", "start": 946 } ], "gene": "http://reg.genome.network/gene/GN011120", 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"NP_001352064.1:p.Glu217_Cys587delinsGlyThrAspProAspCysAlaAspProLeuCysCysArgArgGlySerGlyLeuProProAlaSerArgProGlyAlaGlyTyrTrpGlyGluTyrSerLysCysAspLeuProLeuArgThrLeuGluSerLeuLeuSerGlyLeuGlyProAlaGlyProPheAspMetValTyrTrpThrGlyAspIleProAlaHisAspValTrpHisGlnThrArgGlnAspGlnLeuArgAlaLeuThrThrValThrAlaLeuValArgLysPheLeuGlyProValProValTyrProAlaValGlyAsnHisGluSerThrProValAsnSerPheProProProPheIleGluGlyAsnHisSerSerArgTrpLeuTyrGluAlaMetAlaLysAlaTrpGluProTrpLeuProAlaGluAlaLeuArgThrLeuArgTyrLeuSerSerValGluThrGlnGluGlyLysArgLysValHisIleIleGlyHisIleProProGlyHisCysLeuLysSerTrpSerTrpAsnTyrTyrArgIleValAlaArgTyrGluAsnThrLeuAlaAlaGlnPhePheGlyHisThrHisValAspGluPheGluValPheTyrAspGluGluThrLeuSerArgProLeuAlaValAlaPheLeuAlaProSerAlaThrThrTyrIleGlyLeuAsnProGlyTyrArgValTyrGlnIleAspGlyAsnTyrSerGlySerSerHisValValLeuAspHisGluThrTyrIleLeuAsnLeuThrGlnAlaAsnIleProGlyAlaIleProHisTrpGlnLeuLeuTyrArgAlaArgGluThrTyrGlyLeuProAsnThrLeuProThrAlaTrpHisAsnLeuValTyrArgMetArgGlyAspMetGlnLeuPheGlnThrPheTrpPheLeuTyrHisLysGlyHisProProSerGluProCysGlyThrProCysArgLeuAlaThrLeuCysAlaGlnLeuSerAlaArgAlaAspSerProAlaLeuCysArgHisLeuMetProAspGlySerLeuProGluAlaGlnSerLeuTrpProArgProLeuPheCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS524035" }, { "coordinates": [ { "allele": "T", "end": 834, "referenceAllele": "G", "start": 833 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "NR_027400.2:n.834G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS527197" }, { "coordinates": [ { "allele": "T", "end": 623, "endIntronDirection": "+", "endIntronOffset": 211, "referenceAllele": "G", "start": 623, "startIntronDirection": "+", "startIntronOffset": 210 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "NR_134502.1:n.623+211G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS527622" }, { "coordinates": [ { "allele": "T", "end": 774, "referenceAllele": "G", "start": 773 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "XM_011520304.2:c.649G>T" ], "proteinEffect": { "hgvs": "XP_011518606.1:p.Glu217Ter", "hgvsWellDefined": "XP_011518606.1:p.Glu217_Lys464delinsGlyThrAspProAspCysAlaAspProLeuCysCysArgArgGlySerGlyLeuProProAlaSerArgProGlyAlaGlyTyrTrpGlyGluTyrSerLysCysAspLeuProLeuArgThrLeuGluSerLeuLeuSerGlyLeuGlyProAlaGlyProPheAspMetValTyrTrpThrGlyAspIleProAlaHisAspValTrpHisGlnThrArgGlnAspGlnLeuArgAlaLeuThrThrValThrAlaLeuValArgLysPheLeuGlyProValProValTyrProAlaValGlyAsnHisGluSerThrProValAsnSerPheProProProPheIleGluGlyAsnHisSerSerArgTrpLeuTyrGluAlaMetAlaLysAlaTrpGluProTrpLeuProAlaGluAlaLeuArgThrLeuArgTyrLeuSerSerValGluThrGlnGluGlyLysArgLysValHisIleIleGlyHisIleProProGlyHisCysLeuLysSerTrpSerTrpAsnTyrTyrArgIleValAlaArgTyrGluAsnThrLeuAlaAlaGlnPhePheGlyHisThrHisValAspGluPheGluValPheTyrAspGluGluThrLeuSerArgProLeuAlaValAlaPheLeuAlaProSerAlaThrThrTyrIleGlyLeuAsnProValSerProThrSerLeuGlnValThrValCysThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS545676" }, { "coordinates": [ { "allele": "T", "end": 774, "referenceAllele": "G", "start": 773 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "XR_001747940.2:n.774G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS596017" }, { "coordinates": [ { "allele": "T", "end": 774, "referenceAllele": "G", "start": 773 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "XR_002957158.1:n.774G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS603294" }, { "@id": "http://reg.genome.network/allele/PA645503892", "coordinates": [ { "allele": "T", "end": 774, "referenceAllele": "G", "start": 773 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "NM_000543.5:c.649G>T" ], "proteinEffect": { "hgvs": "NP_000534.3:p.Glu217Ter", "hgvsWellDefined": "NP_000534.3:p.Glu217_Cys631delinsGlyThrAspProAspCysAlaAspProLeuCysCysArgArgGlySerGlyLeuProProAlaSerArgProGlyAlaGlyTyrTrpGlyGluTyrSerLysCysAspLeuProLeuArgThrLeuGluSerLeuLeuSerGlyLeuGlyProAlaGlyProPheAspMetValTyrTrpThrGlyAspIleProAlaHisAspValTrpHisGlnThrArgGlnAspGlnLeuArgAlaLeuThrThrValThrAlaLeuValArgLysPheLeuGlyProValProValTyrProAlaValGlyAsnHisGluSerThrProValAsnSerPheProProProPheIleGluGlyAsnHisSerSerArgTrpLeuTyrGluAlaMetAlaLysAlaTrpGluProTrpLeuProAlaGluAlaLeuArgThrLeuArgIleGlyGlyPheTyrAlaLeuSerProTyrProGlyLeuArgLeuIleSerLeuAsnMetAsnPheCysSerArgGluAsnPheTrpLeuLeuIleAsnSerThrAspProAlaGlyGlnLeuGlnTrpLeuValGlyGluLeuGlnAlaAlaGluAspArgGlyAspLysValHisIleIleGlyHisIleProProGlyHisCysLeuLysSerTrpSerTrpAsnTyrTyrArgIleValAlaArgTyrGluAsnThrLeuAlaAlaGlnPhePheGlyHisThrHisValAspGluPheGluValPheTyrAspGluGluThrLeuSerArgProLeuAlaValAlaPheLeuAlaProSerAlaThrThrTyrIleGlyLeuAsnProGlyTyrArgValTyrGlnIleAspGlyAsnTyrSerGlySerSerHisValValLeuAspHisGluThrTyrIleLeuAsnLeuThrGlnAlaAsnIleProGlyAlaIleProHisTrpGlnLeuLeuTyrArgAlaArgGluThrTyrGlyLeuProAsnThrLeuProThrAlaTrpHisAsnLeuValTyrArgMetArgGlyAspMetGlnLeuPheGlnThrPheTrpPheLeuTyrHisLysGlyHisProProSerGluProCysGlyThrProCysArgLeuAlaThrLeuCysAlaGlnLeuSerAlaArgAlaAspSerProAlaLeuCysArgHisLeuMetProAspGlySerLeuProGluAlaGlnSerLeuTrpProArgProLeuPheCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662482", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000342245.9:c.649G>T" }, "RefSeq": { "hgvs": "NM_000543.5:c.649G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000340409.4:p.Glu217Ter" }, "RefSeq": { "hgvs": "NP_000534.3:p.Glu217Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825288362", "coordinates": [ { "allele": "T", "end": 771, "referenceAllele": "G", "start": 770 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "NM_001007593.3:c.646G>T" ], "proteinEffect": { "hgvs": "NP_001007594.2:p.Glu216Ter", "hgvsWellDefined": "NP_001007594.2:p.Glu216_Cys630delinsGlyThrAspProAspCysAlaAspProLeuCysCysArgArgGlySerGlyLeuProProAlaSerArgProGlyAlaGlyTyrTrpGlyGluTyrSerLysCysAspLeuProLeuArgThrLeuGluSerLeuLeuSerGlyLeuGlyProAlaGlyProPheAspMetValTyrTrpThrGlyAspIleProAlaHisAspValTrpHisGlnThrArgGlnAspGlnLeuArgAlaLeuThrThrValThrAlaLeuValArgLysPheLeuGlyProValProValTyrProAlaValGlyAsnHisGluSerThrProValAsnSerPheProProProPheIleGluGlyAsnHisSerSerArgTrpLeuTyrGluAlaMetAlaLysAlaTrpGluProTrpLeuProAlaGluAlaLeuArgThrLeuArgIleGlyGlyPheTyrAlaLeuSerProTyrProGlyLeuArgLeuIleSerLeuAsnMetAsnPheCysSerArgGluAsnPheTrpLeuLeuIleAsnSerThrAspProAlaGlyGlnLeuGlnTrpLeuValGlyGluLeuGlnAlaAlaGluAspArgGlyAspLysValHisIleIleGlyHisIleProProGlyHisCysLeuLysSerTrpSerTrpAsnTyrTyrArgIleValAlaArgTyrGluAsnThrLeuAlaAlaGlnPhePheGlyHisThrHisValAspGluPheGluValPheTyrAspGluGluThrLeuSerArgProLeuAlaValAlaPheLeuAlaProSerAlaThrThrTyrIleGlyLeuAsnProGlyTyrArgValTyrGlnIleAspGlyAsnTyrSerGlySerSerHisValValLeuAspHisGluThrTyrIleLeuAsnLeuThrGlnAlaAsnIleProGlyAlaIleProHisTrpGlnLeuLeuTyrArgAlaArgGluThrTyrGlyLeuProAsnThrLeuProThrAlaTrpHisAsnLeuValTyrArgMetArgGlyAspMetGlnLeuPheGlnThrPheTrpPheLeuTyrHisLysGlyHisProProSerGluProCysGlyThrProCysArgLeuAlaThrLeuCysAlaGlnLeuSerAlaArgAlaAspSerProAlaLeuCysArgHisLeuMetProAspGlySerLeuProGluAlaGlnSerLeuTrpProArgProLeuPheCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675298" }, { "@id": "http://reg.genome.network/allele/PA2826978668", "coordinates": [ { "allele": "T", "end": 774, "referenceAllele": "G", "start": 773 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "NM_001318087.2:c.649G>T" ], "proteinEffect": { "hgvs": "NP_001305016.1:p.Glu217Ter", "hgvsWellDefined": "NP_001305016.1:p.Glu217_Lys508delinsGlyThrAspProAspCysAlaAspProLeuCysCysArgArgGlySerGlyLeuProProAlaSerArgProGlyAlaGlyTyrTrpGlyGluTyrSerLysCysAspLeuProLeuArgThrLeuGluSerLeuLeuSerGlyLeuGlyProAlaGlyProPheAspMetValTyrTrpThrGlyAspIleProAlaHisAspValTrpHisGlnThrArgGlnAspGlnLeuArgAlaLeuThrThrValThrAlaLeuValArgLysPheLeuGlyProValProValTyrProAlaValGlyAsnHisGluSerThrProValAsnSerPheProProProPheIleGluGlyAsnHisSerSerArgTrpLeuTyrGluAlaMetAlaLysAlaTrpGluProTrpLeuProAlaGluAlaLeuArgThrLeuArgIleGlyGlyPheTyrAlaLeuSerProTyrProGlyLeuArgLeuIleSerLeuAsnMetAsnPheCysSerArgGluAsnPheTrpLeuLeuIleAsnSerThrAspProAlaGlyGlnLeuGlnTrpLeuValGlyGluLeuGlnAlaAlaGluAspArgGlyAspLysValHisIleIleGlyHisIleProProGlyHisCysLeuLysSerTrpSerTrpAsnTyrTyrArgIleValAlaArgTyrGluAsnThrLeuAlaAlaGlnPhePheGlyHisThrHisValAspGluPheGluValPheTyrAspGluGluThrLeuSerArgProLeuAlaValAlaPheLeuAlaProSerAlaThrThrTyrIleGlyLeuAsnProValSerProThrSerLeuGlnValThrValCysThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS684426" }, { "coordinates": [ { "allele": "T", "end": 774, "referenceAllele": "G", "start": 773 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "NM_001318088.2:c.-313G>T" ], "proteinEffect": { "hgvs": "NP_001305017.1:n.-313G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS684427" }, { "@id": "http://reg.genome.network/allele/PA916045118", "coordinates": [ { "allele": "T", "end": 774, "referenceAllele": "G", "start": 773 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "NM_001365135.2:c.649G>T" ], "proteinEffect": { "hgvs": "NP_001352064.1:p.Glu217Ter", "hgvsWellDefined": "NP_001352064.1:p.Glu217_Cys587delinsGlyThrAspProAspCysAlaAspProLeuCysCysArgArgGlySerGlyLeuProProAlaSerArgProGlyAlaGlyTyrTrpGlyGluTyrSerLysCysAspLeuProLeuArgThrLeuGluSerLeuLeuSerGlyLeuGlyProAlaGlyProPheAspMetValTyrTrpThrGlyAspIleProAlaHisAspValTrpHisGlnThrArgGlnAspGlnLeuArgAlaLeuThrThrValThrAlaLeuValArgLysPheLeuGlyProValProValTyrProAlaValGlyAsnHisGluSerThrProValAsnSerPheProProProPheIleGluGlyAsnHisSerSerArgTrpLeuTyrGluAlaMetAlaLysAlaTrpGluProTrpLeuProAlaGluAlaLeuArgThrLeuArgTyrLeuSerSerValGluThrGlnGluGlyLysArgLysValHisIleIleGlyHisIleProProGlyHisCysLeuLysSerTrpSerTrpAsnTyrTyrArgIleValAlaArgTyrGluAsnThrLeuAlaAlaGlnPhePheGlyHisThrHisValAspGluPheGluValPheTyrAspGluGluThrLeuSerArgProLeuAlaValAlaPheLeuAlaProSerAlaThrThrTyrIleGlyLeuAsnProGlyTyrArgValTyrGlnIleAspGlyAsnTyrSerGlySerSerHisValValLeuAspHisGluThrTyrIleLeuAsnLeuThrGlnAlaAsnIleProGlyAlaIleProHisTrpGlnLeuLeuTyrArgAlaArgGluThrTyrGlyLeuProAsnThrLeuProThrAlaTrpHisAsnLeuValTyrArgMetArgGlyAspMetGlnLeuPheGlnThrPheTrpPheLeuTyrHisLysGlyHisProProSerGluProCysGlyThrProCysArgLeuAlaThrLeuCysAlaGlnLeuSerAlaArgAlaAspSerProAlaLeuCysArgHisLeuMetProAspGlySerLeuProGluAlaGlnSerLeuTrpProArgProLeuPheCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690988" }, { "coordinates": [ { "allele": "T", "end": 774, "referenceAllele": "G", "start": 773 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "NR_027400.3:n.774G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS701945" }, { "coordinates": [ { "allele": "T", "end": 563, "endIntronDirection": "+", "endIntronOffset": 211, "referenceAllele": "G", "start": 563, "startIntronDirection": "+", "startIntronOffset": 210 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "NR_134502.2:n.563+211G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS703473" } ], "type": "nucleotide" }