{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA116312", "communityStandardTitle": [ "NM_144585.4(SLC22A12):c.774G>A (p.Trp258Ter)" ], "externalRecords": { "COSMIC": [ { "active": false, "id": "COSM4989275" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=18551[alleleid]", "alleleId": 18551, "preferredName": "NM_144585.4(SLC22A12):c.774G>A (p.Trp258Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3512", "RCV": [ "RCV000003689", "RCV001851624", "RCV003944797" ], "variationId": 3512 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/11-64361219-G-A", "id": "11-64361219-G-A", "variant": "11:64361219 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.64361219G>A?assembly=hg19", "id": "chr11:g.64361219G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.64593747G>A?assembly=hg38", "id": "chr11:g.64593747G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/121907892", "rs": 121907892 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-64361219-G-A?dataset=gnomad_r2_1", "id": "11-64361219-G-A", "variant": "11:64361219 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-64593747-G-A?dataset=gnomad_r3", "id": "11-64593747-G-A", "variant": "11:64593747 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-64593747-G-A?dataset=gnomad_r4", "id": "11-64593747-G-A", "variant": "11:64593747 G / A" } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 64593747, "referenceAllele": "G", "start": 64593746 } ], "hgvs": [ "NC_000011.10:g.64593747G>A", "CM000673.2:g.64593747G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000059" }, { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 64361219, "referenceAllele": "G", "start": 64361218 } ], "hgvs": [ "NC_000011.9:g.64361219G>A", "CM000673.1:g.64361219G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000035" }, { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 64117795, "referenceAllele": "G", "start": 64117794 } ], "hgvs": [ "NC_000011.8:g.64117795G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000011" }, { "coordinates": [ { "allele": "A", "end": 7938, "referenceAllele": "G", "start": 7937 } ], "hgvs": [ "NG_008110.1:g.7938G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000855" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1111, "referenceAllele": "G", "start": 1110 } ], "gene": "http://reg.genome.network/gene/GN017989", "geneNCBI_id": 116085, "geneSymbol": "SLC22A12", "hgvs": [ "ENST00000377574.6:c.774G>A" ], "proteinEffect": { "hgvs": "ENSP00000366797.1:p.Trp258Ter", "hgvsWellDefined": "ENSP00000366797.1:p.Trp258_Phe553delinsThrLeuLeuGlnLeuValValSerValProPhePheLeuCysPheLeuTyrSerTrpTrpLeuAlaGluSerAlaArgTrpLeuLeuThrThrGlyArgLeuAspTrpGlyLeuGlnGluLeuTrpArgValAlaAlaIleAsnGlyLysGlyAlaValGlnAspThrLeuThrProGluValLeuLeuSerAlaMetArgGluGluLeuSerMetGlyGlnProProAlaSerLeuGlyThrLeuLeuArgMetProGlyLeuArgPheArgThrCysIleSerThrLeuCysTrpPheAlaPheGlyPheThrPhePheGlyLeuAlaLeuAspLeuGlnAlaLeuGlySerAsnIlePheLeuLeuGlnMetPheIleGlyValValAspIleProAlaLysMetGlyAlaLeuLeuLeuLeuSerHisLeuGlyArgArgProThrLeuAlaAlaSerLeuLeuLeuAlaGlyLeuCysIleLeuAlaAsnThrLeuValProHisGluMetGlyAlaLeuArgSerAlaLeuAlaValLeuGlyLeuGlyGlyValGlyAlaAlaPheThrCysIleThrIleTyrSerSerGluLeuPheProThrValLeuArgMetThrAlaValGlyLeuGlyGlnMetAlaAlaArgGlyGlyAlaIleLeuGlyProLeuValArgLeuLeuGlyValHisGlyProTrpLeuProLeuLeuValTyrGlyThrValProValLeuSerGlyLeuAlaAlaLeuLeuLeuProGluThrGlnSerLeuProLeuProAspThrIleGlnAspValGlnAsnGlnAlaValLysLysAlaThrHisGlyThrLeuGlyAsnSerValLeuLysSerThrGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS751934", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000377574.6:c.774G>A" }, "RefSeq": { "hgvs": "NM_144585.4:c.774G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000366797.1:p.Trp258Ter" }, "RefSeq": { "hgvs": "NP_653186.2:p.Trp258Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 966, "referenceAllele": "G", "start": 965 } ], "gene": "http://reg.genome.network/gene/GN017989", "geneNCBI_id": 116085, "geneSymbol": "SLC22A12", "hgvs": [ "ENST00000336464.7:c.672G>A" ], "proteinEffect": { "hgvs": "ENSP00000336836.7:p.Trp224Ter", "hgvsWellDefined": "ENSP00000336836.7:p.Trp224_Phe519delinsThrLeuLeuGlnLeuValValSerValProPhePheLeuCysPheLeuTyrSerTrpTrpLeuAlaGluSerAlaArgTrpLeuLeuThrThrGlyArgLeuAspTrpGlyLeuGlnGluLeuTrpArgValAlaAlaIleAsnGlyLysGlyAlaValGlnAspThrLeuThrProGluValLeuLeuSerAlaMetArgGluGluLeuSerMetGlyGlnProProAlaSerLeuGlyThrLeuLeuArgMetProGlyLeuArgPheArgThrCysIleSerThrLeuCysTrpPheAlaPheGlyPheThrPhePheGlyLeuAlaLeuAspLeuGlnAlaLeuGlySerAsnIlePheLeuLeuGlnMetPheIleGlyValValAspIleProAlaLysMetGlyAlaLeuLeuLeuLeuSerHisLeuGlyArgArgProThrLeuAlaAlaSerLeuLeuLeuAlaGlyLeuCysIleLeuAlaAsnThrLeuValProHisGluMetGlyAlaLeuArgSerAlaLeuAlaValLeuGlyLeuGlyGlyValGlyAlaAlaPheThrCysIleThrIleTyrSerSerGluLeuPheProThrValLeuArgMetThrAlaValGlyLeuGlyGlnMetAlaAlaArgGlyGlyAlaIleLeuGlyProLeuValArgLeuLeuGlyValHisGlyProTrpLeuProLeuLeuValTyrGlyThrValProValLeuSerGlyLeuAlaAlaLeuLeuLeuProGluThrGlnSerLeuProLeuProAspThrIleGlnAspValGlnAsnGlnAlaValLysLysAlaThrHisGlyThrLeuGlyAsnSerValLeuLysSerThrGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS260312" }, { "coordinates": [ { "allele": "A", "end": 970, "endIntronDirection": "+", "endIntronOffset": 865, "referenceAllele": "G", "start": 970, "startIntronDirection": "+", "startIntronOffset": 864 } ], "gene": "http://reg.genome.network/gene/GN017989", "geneNCBI_id": 116085, "geneSymbol": "SLC22A12", "hgvs": [ "ENST00000377567.6:c.506+865G>A" ], "proteinEffect": { "hgvs": "ENSP00000366790.2:n.506+865G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS271644" }, { "coordinates": [ { "allele": "A", "end": 1253, "endIntronDirection": "+", "endIntronOffset": 865, "referenceAllele": "G", "start": 1253, "startIntronDirection": "+", "startIntronOffset": 864 } ], "gene": "http://reg.genome.network/gene/GN017989", "geneNCBI_id": 116085, "geneSymbol": "SLC22A12", "hgvs": [ "ENST00000377572.5:c.506+865G>A" ], "proteinEffect": { "hgvs": "ENSP00000366795.1:n.506+865G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS271645" }, { "coordinates": [ { "allele": "A", "end": 1521, "referenceAllele": "G", "start": 1520 } ], "gene": "http://reg.genome.network/gene/GN017989", "geneNCBI_id": 116085, "geneSymbol": "SLC22A12", "hgvs": [ "ENST00000377574.5:c.774G>A" ], "proteinEffect": { "hgvs": "ENSP00000366797.1:p.Trp258Ter", "hgvsWellDefined": "ENSP00000366797.1:p.Trp258_Phe553delinsThrLeuLeuGlnLeuValValSerValProPhePheLeuCysPheLeuTyrSerTrpTrpLeuAlaGluSerAlaArgTrpLeuLeuThrThrGlyArgLeuAspTrpGlyLeuGlnGluLeuTrpArgValAlaAlaIleAsnGlyLysGlyAlaValGlnAspThrLeuThrProGluValLeuLeuSerAlaMetArgGluGluLeuSerMetGlyGlnProProAlaSerLeuGlyThrLeuLeuArgMetProGlyLeuArgPheArgThrCysIleSerThrLeuCysTrpPheAlaPheGlyPheThrPhePheGlyLeuAlaLeuAspLeuGlnAlaLeuGlySerAsnIlePheLeuLeuGlnMetPheIleGlyValValAspIleProAlaLysMetGlyAlaLeuLeuLeuLeuSerHisLeuGlyArgArgProThrLeuAlaAlaSerLeuLeuLeuAlaGlyLeuCysIleLeuAlaAsnThrLeuValProHisGluMetGlyAlaLeuArgSerAlaLeuAlaValLeuGlyLeuGlyGlyValGlyAlaAlaPheThrCysIleThrIleTyrSerSerGluLeuPheProThrValLeuArgMetThrAlaValGlyLeuGlyGlnMetAlaAlaArgGlyGlyAlaIleLeuGlyProLeuValArgLeuLeuGlyValHisGlyProTrpLeuProLeuLeuValTyrGlyThrValProValLeuSerGlyLeuAlaAlaLeuLeuLeuProGluThrGlnSerLeuProLeuProAspThrIleGlnAspValGlnAsnGlnAlaValLysLysAlaThrHisGlyThrLeuGlyAsnSerValLeuLysSerThrGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS271646" }, { "coordinates": [ { "allele": "A", "end": 837, "referenceAllele": "G", "start": 836 } ], "gene": "http://reg.genome.network/gene/GN017989", "geneNCBI_id": 116085, "geneSymbol": "SLC22A12", "hgvs": [ "ENST00000473690.5:c.111G>A" ], "proteinEffect": { "hgvs": "ENSP00000438437.1:p.Trp37Ter", "hgvsWellDefined": "ENSP00000438437.1:p.Trp37_Phe332delinsThrLeuLeuGlnLeuValValSerValProPhePheLeuCysPheLeuTyrSerTrpTrpLeuAlaGluSerAlaArgTrpLeuLeuThrThrGlyArgLeuAspTrpGlyLeuGlnGluLeuTrpArgValAlaAlaIleAsnGlyLysGlyAlaValGlnAspThrLeuThrProGluValLeuLeuSerAlaMetArgGluGluLeuSerMetGlyGlnProProAlaSerLeuGlyThrLeuLeuArgMetProGlyLeuArgPheArgThrCysIleSerThrLeuCysTrpPheAlaPheGlyPheThrPhePheGlyLeuAlaLeuAspLeuGlnAlaLeuGlySerAsnIlePheLeuLeuGlnMetPheIleGlyValValAspIleProAlaLysMetGlyAlaLeuLeuLeuLeuSerHisLeuGlyArgArgProThrLeuAlaAlaSerLeuLeuLeuAlaGlyLeuCysIleLeuAlaAsnThrLeuValProHisGluMetGlyAlaLeuArgSerAlaLeuAlaValLeuGlyLeuGlyGlyValGlyAlaAlaPheThrCysIleThrIleTyrSerSerGluLeuPheProThrValLeuArgMetThrAlaValGlyLeuGlyGlnMetAlaAlaArgGlyGlyAlaIleLeuGlyProLeuValArgLeuLeuGlyValHisGlyProTrpLeuProLeuLeuValTyrGlyThrValProValLeuSerGlyLeuAlaAlaLeuLeuLeuProGluThrGlnSerLeuProLeuProAspThrIleGlnAspValGlnAsnGlnAlaValLysLysAlaThrHisGlyThrLeuGlyAsnSerValLeuLysSerThrGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS315378" }, { "@id": "http://reg.genome.network/allele/PA2826554090", "coordinates": [ { "allele": "A", "end": 1419, "referenceAllele": "G", "start": 1418 } ], "gene": "http://reg.genome.network/gene/GN017989", "geneNCBI_id": 116085, "geneSymbol": "SLC22A12", "hgvs": [ "NM_001276326.1:c.672G>A" ], "proteinEffect": { "hgvs": "NP_001263255.1:p.Trp224Ter", "hgvsWellDefined": "NP_001263255.1:p.Trp224_Phe519delinsThrLeuLeuGlnLeuValValSerValProPhePheLeuCysPheLeuTyrSerTrpTrpLeuAlaGluSerAlaArgTrpLeuLeuThrThrGlyArgLeuAspTrpGlyLeuGlnGluLeuTrpArgValAlaAlaIleAsnGlyLysGlyAlaValGlnAspThrLeuThrProGluValLeuLeuSerAlaMetArgGluGluLeuSerMetGlyGlnProProAlaSerLeuGlyThrLeuLeuArgMetProGlyLeuArgPheArgThrCysIleSerThrLeuCysTrpPheAlaPheGlyPheThrPhePheGlyLeuAlaLeuAspLeuGlnAlaLeuGlySerAsnIlePheLeuLeuGlnMetPheIleGlyValValAspIleProAlaLysMetGlyAlaLeuLeuLeuLeuSerHisLeuGlyArgArgProThrLeuAlaAlaSerLeuLeuLeuAlaGlyLeuCysIleLeuAlaAsnThrLeuValProHisGluMetGlyAlaLeuArgSerAlaLeuAlaValLeuGlyLeuGlyGlyValGlyAlaAlaPheThrCysIleThrIleTyrSerSerGluLeuPheProThrValLeuArgMetThrAlaValGlyLeuGlyGlnMetAlaAlaArgGlyGlyAlaIleLeuGlyProLeuValArgLeuLeuGlyValHisGlyProTrpLeuProLeuLeuValTyrGlyThrValProValLeuSerGlyLeuAlaAlaLeuLeuLeuProGluThrGlnSerLeuProLeuProAspThrIleGlnAspValGlnAsnGlnAlaValLysLysAlaThrHisGlyThrLeuGlyAsnSerValLeuLysSerThrGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS020869" }, { "coordinates": [ { "allele": "A", "end": 1253, "endIntronDirection": "+", "endIntronOffset": 865, "referenceAllele": "G", "start": 1253, "startIntronDirection": "+", "startIntronOffset": 864 } ], "gene": "http://reg.genome.network/gene/GN017989", "geneNCBI_id": 116085, "geneSymbol": "SLC22A12", "hgvs": [ "NM_001276327.1:c.506+865G>A" ], "proteinEffect": { "hgvs": "NP_001263256.1:n.506+865G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS020870" }, { "@id": "http://reg.genome.network/allele/PA116313", "coordinates": [ { "allele": "A", "end": 1521, "referenceAllele": "G", "start": 1520 } ], "gene": "http://reg.genome.network/gene/GN017989", "geneNCBI_id": 116085, "geneSymbol": "SLC22A12", "hgvs": [ "NM_144585.3:c.774G>A" ], "proteinEffect": { "hgvs": "NP_653186.2:p.Trp258Ter", "hgvsWellDefined": "NP_653186.2:p.Trp258_Phe553delinsThrLeuLeuGlnLeuValValSerValProPhePheLeuCysPheLeuTyrSerTrpTrpLeuAlaGluSerAlaArgTrpLeuLeuThrThrGlyArgLeuAspTrpGlyLeuGlnGluLeuTrpArgValAlaAlaIleAsnGlyLysGlyAlaValGlnAspThrLeuThrProGluValLeuLeuSerAlaMetArgGluGluLeuSerMetGlyGlnProProAlaSerLeuGlyThrLeuLeuArgMetProGlyLeuArgPheArgThrCysIleSerThrLeuCysTrpPheAlaPheGlyPheThrPhePheGlyLeuAlaLeuAspLeuGlnAlaLeuGlySerAsnIlePheLeuLeuGlnMetPheIleGlyValValAspIleProAlaLysMetGlyAlaLeuLeuLeuLeuSerHisLeuGlyArgArgProThrLeuAlaAlaSerLeuLeuLeuAlaGlyLeuCysIleLeuAlaAsnThrLeuValProHisGluMetGlyAlaLeuArgSerAlaLeuAlaValLeuGlyLeuGlyGlyValGlyAlaAlaPheThrCysIleThrIleTyrSerSerGluLeuPheProThrValLeuArgMetThrAlaValGlyLeuGlyGlnMetAlaAlaArgGlyGlyAlaIleLeuGlyProLeuValArgLeuLeuGlyValHisGlyProTrpLeuProLeuLeuValTyrGlyThrValProValLeuSerGlyLeuAlaAlaLeuLeuLeuProGluThrGlnSerLeuProLeuProAspThrIleGlnAspValGlnAsnGlnAlaValLysLysAlaThrHisGlyThrLeuGlyAsnSerValLeuLysSerThrGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS041114" }, { "@id": "http://reg.genome.network/allele/PA916055299", "coordinates": [ { "allele": "A", "end": 1255, "referenceAllele": "G", "start": 1254 } ], "gene": "http://reg.genome.network/gene/GN017989", "geneNCBI_id": 116085, "geneSymbol": "SLC22A12", "hgvs": [ "NM_153378.2:c.111G>A" ], "proteinEffect": { "hgvs": "NP_700357.1:p.Trp37Ter", "hgvsWellDefined": "NP_700357.1:p.Trp37_Phe332delinsThrLeuLeuGlnLeuValValSerValProPhePheLeuCysPheLeuTyrSerTrpTrpLeuAlaGluSerAlaArgTrpLeuLeuThrThrGlyArgLeuAspTrpGlyLeuGlnGluLeuTrpArgValAlaAlaIleAsnGlyLysGlyAlaValGlnAspThrLeuThrProGluValLeuLeuSerAlaMetArgGluGluLeuSerMetGlyGlnProProAlaSerLeuGlyThrLeuLeuArgMetProGlyLeuArgPheArgThrCysIleSerThrLeuCysTrpPheAlaPheGlyPheThrPhePheGlyLeuAlaLeuAspLeuGlnAlaLeuGlySerAsnIlePheLeuLeuGlnMetPheIleGlyValValAspIleProAlaLysMetGlyAlaLeuLeuLeuLeuSerHisLeuGlyArgArgProThrLeuAlaAlaSerLeuLeuLeuAlaGlyLeuCysIleLeuAlaAsnThrLeuValProHisGluMetGlyAlaLeuArgSerAlaLeuAlaValLeuGlyLeuGlyGlyValGlyAlaAlaPheThrCysIleThrIleTyrSerSerGluLeuPheProThrValLeuArgMetThrAlaValGlyLeuGlyGlnMetAlaAlaArgGlyGlyAlaIleLeuGlyProLeuValArgLeuLeuGlyValHisGlyProTrpLeuProLeuLeuValTyrGlyThrValProValLeuSerGlyLeuAlaAlaLeuLeuLeuProGluThrGlnSerLeuProLeuProAspThrIleGlnAspValGlnAsnGlnAlaValLysLysAlaThrHisGlyThrLeuGlyAsnSerValLeuLysSerThrGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS042383" }, { "coordinates": [ { "allele": "A", "end": 1202, "referenceAllele": "G", "start": 1201 } ], "gene": "http://reg.genome.network/gene/GN017989", "geneNCBI_id": 116085, "geneSymbol": "SLC22A12", "hgvs": [ "XM_006718430.2:c.849G>A" ], "proteinEffect": { "hgvs": "XP_006718493.1:p.Trp283Ter", "hgvsWellDefined": "XP_006718493.1:p.Trp283_Phe578delinsThrLeuLeuGlnLeuValValSerValProPhePheLeuCysPheLeuTyrSerTrpTrpLeuAlaGluSerAlaArgTrpLeuLeuThrThrGlyArgLeuAspTrpGlyLeuGlnGluLeuTrpArgValAlaAlaIleAsnGlyLysGlyAlaValGlnAspThrLeuThrProGluValLeuLeuSerAlaMetArgGluGluLeuSerMetGlyGlnProProAlaSerLeuGlyThrLeuLeuArgMetProGlyLeuArgPheArgThrCysIleSerThrLeuCysTrpPheAlaPheGlyPheThrPhePheGlyLeuAlaLeuAspLeuGlnAlaLeuGlySerAsnIlePheLeuLeuGlnMetPheIleGlyValValAspIleProAlaLysMetGlyAlaLeuLeuLeuLeuSerHisLeuGlyArgArgProThrLeuAlaAlaSerLeuLeuLeuAlaGlyLeuCysIleLeuAlaAsnThrLeuValProHisGluMetGlyAlaLeuArgSerAlaLeuAlaValLeuGlyLeuGlyGlyValGlyAlaAlaPheThrCysIleThrIleTyrSerSerGluLeuPheProThrValLeuArgMetThrAlaValGlyLeuGlyGlnMetAlaAlaArgGlyGlyAlaIleLeuGlyProLeuValArgLeuLeuGlyValHisGlyProTrpLeuProLeuLeuValTyrGlyThrValProValLeuSerGlyLeuAlaAlaLeuLeuLeuProGluThrGlnSerLeuProLeuProAspThrIleGlnAspValGlnAsnGlnAlaValLysLysAlaThrHisGlyThrLeuGlyAsnSerValLeuLysSerThrGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS072635" }, { "coordinates": [ { "allele": "A", "end": 1088, "referenceAllele": "G", "start": 1087 } ], "gene": "http://reg.genome.network/gene/GN017989", "geneNCBI_id": 116085, "geneSymbol": "SLC22A12", "hgvs": [ "XM_006718431.2:c.744G>A" ], "proteinEffect": { "hgvs": "XP_006718494.1:p.Trp248Ter", "hgvsWellDefined": "XP_006718494.1:p.Trp248_Phe543delinsThrLeuLeuGlnLeuValValSerValProPhePheLeuCysPheLeuTyrSerTrpTrpLeuAlaGluSerAlaArgTrpLeuLeuThrThrGlyArgLeuAspTrpGlyLeuGlnGluLeuTrpArgValAlaAlaIleAsnGlyLysGlyAlaValGlnAspThrLeuThrProGluValLeuLeuSerAlaMetArgGluGluLeuSerMetGlyGlnProProAlaSerLeuGlyThrLeuLeuArgMetProGlyLeuArgPheArgThrCysIleSerThrLeuCysTrpPheAlaPheGlyPheThrPhePheGlyLeuAlaLeuAspLeuGlnAlaLeuGlySerAsnIlePheLeuLeuGlnMetPheIleGlyValValAspIleProAlaLysMetGlyAlaLeuLeuLeuLeuSerHisLeuGlyArgArgProThrLeuAlaAlaSerLeuLeuLeuAlaGlyLeuCysIleLeuAlaAsnThrLeuValProHisGluMetGlyAlaLeuArgSerAlaLeuAlaValLeuGlyLeuGlyGlyValGlyAlaAlaPheThrCysIleThrIleTyrSerSerGluLeuPheProThrValLeuArgMetThrAlaValGlyLeuGlyGlnMetAlaAlaArgGlyGlyAlaIleLeuGlyProLeuValArgLeuLeuGlyValHisGlyProTrpLeuProLeuLeuValTyrGlyThrValProValLeuSerGlyLeuAlaAlaLeuLeuLeuProGluThrGlnSerLeuProLeuProAspThrIleGlnAspValGlnAsnGlnAlaValLysLysAlaThrHisGlyThrLeuGlyAsnSerValLeuLysSerThrGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS072636" }, { "coordinates": [ { "allele": "A", "end": 1187, "referenceAllele": "G", "start": 1186 } ], "gene": "http://reg.genome.network/gene/GN017989", "geneNCBI_id": 116085, "geneSymbol": "SLC22A12", "hgvs": [ "XM_006718430.4:c.849G>A" ], "proteinEffect": { "hgvs": "XP_006718493.1:p.Trp283Ter", "hgvsWellDefined": "XP_006718493.1:p.Trp283_Phe578delinsThrLeuLeuGlnLeuValValSerValProPhePheLeuCysPheLeuTyrSerTrpTrpLeuAlaGluSerAlaArgTrpLeuLeuThrThrGlyArgLeuAspTrpGlyLeuGlnGluLeuTrpArgValAlaAlaIleAsnGlyLysGlyAlaValGlnAspThrLeuThrProGluValLeuLeuSerAlaMetArgGluGluLeuSerMetGlyGlnProProAlaSerLeuGlyThrLeuLeuArgMetProGlyLeuArgPheArgThrCysIleSerThrLeuCysTrpPheAlaPheGlyPheThrPhePheGlyLeuAlaLeuAspLeuGlnAlaLeuGlySerAsnIlePheLeuLeuGlnMetPheIleGlyValValAspIleProAlaLysMetGlyAlaLeuLeuLeuLeuSerHisLeuGlyArgArgProThrLeuAlaAlaSerLeuLeuLeuAlaGlyLeuCysIleLeuAlaAsnThrLeuValProHisGluMetGlyAlaLeuArgSerAlaLeuAlaValLeuGlyLeuGlyGlyValGlyAlaAlaPheThrCysIleThrIleTyrSerSerGluLeuPheProThrValLeuArgMetThrAlaValGlyLeuGlyGlnMetAlaAlaArgGlyGlyAlaIleLeuGlyProLeuValArgLeuLeuGlyValHisGlyProTrpLeuProLeuLeuValTyrGlyThrValProValLeuSerGlyLeuAlaAlaLeuLeuLeuProGluThrGlnSerLeuProLeuProAspThrIleGlnAspValGlnAsnGlnAlaValLysLysAlaThrHisGlyThrLeuGlyAsnSerValLeuLysSerThrGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539621" }, { "coordinates": [ { "allele": "A", "end": 1075, "referenceAllele": "G", "start": 1074 } ], "gene": "http://reg.genome.network/gene/GN017989", "geneNCBI_id": 116085, "geneSymbol": "SLC22A12", "hgvs": [ "XM_006718431.4:c.744G>A" ], "proteinEffect": { "hgvs": "XP_006718494.1:p.Trp248Ter", "hgvsWellDefined": "XP_006718494.1:p.Trp248_Phe543delinsThrLeuLeuGlnLeuValValSerValProPhePheLeuCysPheLeuTyrSerTrpTrpLeuAlaGluSerAlaArgTrpLeuLeuThrThrGlyArgLeuAspTrpGlyLeuGlnGluLeuTrpArgValAlaAlaIleAsnGlyLysGlyAlaValGlnAspThrLeuThrProGluValLeuLeuSerAlaMetArgGluGluLeuSerMetGlyGlnProProAlaSerLeuGlyThrLeuLeuArgMetProGlyLeuArgPheArgThrCysIleSerThrLeuCysTrpPheAlaPheGlyPheThrPhePheGlyLeuAlaLeuAspLeuGlnAlaLeuGlySerAsnIlePheLeuLeuGlnMetPheIleGlyValValAspIleProAlaLysMetGlyAlaLeuLeuLeuLeuSerHisLeuGlyArgArgProThrLeuAlaAlaSerLeuLeuLeuAlaGlyLeuCysIleLeuAlaAsnThrLeuValProHisGluMetGlyAlaLeuArgSerAlaLeuAlaValLeuGlyLeuGlyGlyValGlyAlaAlaPheThrCysIleThrIleTyrSerSerGluLeuPheProThrValLeuArgMetThrAlaValGlyLeuGlyGlnMetAlaAlaArgGlyGlyAlaIleLeuGlyProLeuValArgLeuLeuGlyValHisGlyProTrpLeuProLeuLeuValTyrGlyThrValProValLeuSerGlyLeuAlaAlaLeuLeuLeuProGluThrGlnSerLeuProLeuProAspThrIleGlnAspValGlnAsnGlnAlaValLysLysAlaThrHisGlyThrLeuGlyAsnSerValLeuLysSerThrGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539622" }, { "@id": "http://reg.genome.network/allele/PA116313", "coordinates": [ { "allele": "A", "end": 1111, "referenceAllele": "G", "start": 1110 } ], "gene": "http://reg.genome.network/gene/GN017989", "geneNCBI_id": 116085, "geneSymbol": "SLC22A12", "hgvs": [ "NM_144585.4:c.774G>A" ], "proteinEffect": { "hgvs": "NP_653186.2:p.Trp258Ter", "hgvsWellDefined": "NP_653186.2:p.Trp258_Phe553delinsThrLeuLeuGlnLeuValValSerValProPhePheLeuCysPheLeuTyrSerTrpTrpLeuAlaGluSerAlaArgTrpLeuLeuThrThrGlyArgLeuAspTrpGlyLeuGlnGluLeuTrpArgValAlaAlaIleAsnGlyLysGlyAlaValGlnAspThrLeuThrProGluValLeuLeuSerAlaMetArgGluGluLeuSerMetGlyGlnProProAlaSerLeuGlyThrLeuLeuArgMetProGlyLeuArgPheArgThrCysIleSerThrLeuCysTrpPheAlaPheGlyPheThrPhePheGlyLeuAlaLeuAspLeuGlnAlaLeuGlySerAsnIlePheLeuLeuGlnMetPheIleGlyValValAspIleProAlaLysMetGlyAlaLeuLeuLeuLeuSerHisLeuGlyArgArgProThrLeuAlaAlaSerLeuLeuLeuAlaGlyLeuCysIleLeuAlaAsnThrLeuValProHisGluMetGlyAlaLeuArgSerAlaLeuAlaValLeuGlyLeuGlyGlyValGlyAlaAlaPheThrCysIleThrIleTyrSerSerGluLeuPheProThrValLeuArgMetThrAlaValGlyLeuGlyGlnMetAlaAlaArgGlyGlyAlaIleLeuGlyProLeuValArgLeuLeuGlyValHisGlyProTrpLeuProLeuLeuValTyrGlyThrValProValLeuSerGlyLeuAlaAlaLeuLeuLeuProGluThrGlnSerLeuProLeuProAspThrIleGlnAspValGlnAsnGlnAlaValLysLysAlaThrHisGlyThrLeuGlyAsnSerValLeuLysSerThrGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS672029", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000377574.6:c.774G>A" }, "RefSeq": { "hgvs": "NM_144585.4:c.774G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000366797.1:p.Trp258Ter" }, "RefSeq": { "hgvs": "NP_653186.2:p.Trp258Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826554090", "coordinates": [ { "allele": "A", "end": 1009, "referenceAllele": "G", "start": 1008 } ], "gene": "http://reg.genome.network/gene/GN017989", "geneNCBI_id": 116085, "geneSymbol": "SLC22A12", "hgvs": [ "NM_001276326.2:c.672G>A" ], "proteinEffect": { "hgvs": "NP_001263255.1:p.Trp224Ter", "hgvsWellDefined": "NP_001263255.1:p.Trp224_Phe519delinsThrLeuLeuGlnLeuValValSerValProPhePheLeuCysPheLeuTyrSerTrpTrpLeuAlaGluSerAlaArgTrpLeuLeuThrThrGlyArgLeuAspTrpGlyLeuGlnGluLeuTrpArgValAlaAlaIleAsnGlyLysGlyAlaValGlnAspThrLeuThrProGluValLeuLeuSerAlaMetArgGluGluLeuSerMetGlyGlnProProAlaSerLeuGlyThrLeuLeuArgMetProGlyLeuArgPheArgThrCysIleSerThrLeuCysTrpPheAlaPheGlyPheThrPhePheGlyLeuAlaLeuAspLeuGlnAlaLeuGlySerAsnIlePheLeuLeuGlnMetPheIleGlyValValAspIleProAlaLysMetGlyAlaLeuLeuLeuLeuSerHisLeuGlyArgArgProThrLeuAlaAlaSerLeuLeuLeuAlaGlyLeuCysIleLeuAlaAsnThrLeuValProHisGluMetGlyAlaLeuArgSerAlaLeuAlaValLeuGlyLeuGlyGlyValGlyAlaAlaPheThrCysIleThrIleTyrSerSerGluLeuPheProThrValLeuArgMetThrAlaValGlyLeuGlyGlnMetAlaAlaArgGlyGlyAlaIleLeuGlyProLeuValArgLeuLeuGlyValHisGlyProTrpLeuProLeuLeuValTyrGlyThrValProValLeuSerGlyLeuAlaAlaLeuLeuLeuProGluThrGlnSerLeuProLeuProAspThrIleGlnAspValGlnAsnGlnAlaValLysLysAlaThrHisGlyThrLeuGlyAsnSerValLeuLysSerThrGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681299" }, { "@id": "http://reg.genome.network/allele/PA916055299", "coordinates": [ { "allele": "A", "end": 845, "referenceAllele": "G", "start": 844 } ], "gene": "http://reg.genome.network/gene/GN017989", "geneNCBI_id": 116085, "geneSymbol": "SLC22A12", "hgvs": [ "NM_153378.3:c.111G>A" ], "proteinEffect": { "hgvs": "NP_700357.1:p.Trp37Ter", "hgvsWellDefined": "NP_700357.1:p.Trp37_Phe332delinsThrLeuLeuGlnLeuValValSerValProPhePheLeuCysPheLeuTyrSerTrpTrpLeuAlaGluSerAlaArgTrpLeuLeuThrThrGlyArgLeuAspTrpGlyLeuGlnGluLeuTrpArgValAlaAlaIleAsnGlyLysGlyAlaValGlnAspThrLeuThrProGluValLeuLeuSerAlaMetArgGluGluLeuSerMetGlyGlnProProAlaSerLeuGlyThrLeuLeuArgMetProGlyLeuArgPheArgThrCysIleSerThrLeuCysTrpPheAlaPheGlyPheThrPhePheGlyLeuAlaLeuAspLeuGlnAlaLeuGlySerAsnIlePheLeuLeuGlnMetPheIleGlyValValAspIleProAlaLysMetGlyAlaLeuLeuLeuLeuSerHisLeuGlyArgArgProThrLeuAlaAlaSerLeuLeuLeuAlaGlyLeuCysIleLeuAlaAsnThrLeuValProHisGluMetGlyAlaLeuArgSerAlaLeuAlaValLeuGlyLeuGlyGlyValGlyAlaAlaPheThrCysIleThrIleTyrSerSerGluLeuPheProThrValLeuArgMetThrAlaValGlyLeuGlyGlnMetAlaAlaArgGlyGlyAlaIleLeuGlyProLeuValArgLeuLeuGlyValHisGlyProTrpLeuProLeuLeuValTyrGlyThrValProValLeuSerGlyLeuAlaAlaLeuLeuLeuProGluThrGlnSerLeuProLeuProAspThrIleGlnAspValGlnAsnGlnAlaValLysLysAlaThrHisGlyThrLeuGlyAsnSerValLeuLysSerThrGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS700362" }, { "coordinates": [ { "allele": "A", "end": 843, "endIntronDirection": "+", "endIntronOffset": 865, "referenceAllele": "G", "start": 843, "startIntronDirection": "+", "startIntronOffset": 864 } ], "gene": "http://reg.genome.network/gene/GN017989", "geneNCBI_id": 116085, "geneSymbol": "SLC22A12", "hgvs": [ "NM_001276327.2:c.506+865G>A" ], "proteinEffect": { "hgvs": "NP_001263256.1:n.506+865G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS715379" } ], "type": "nucleotide" }