{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA10577240", "communityStandardTitle": [ "NM_001365536.1(SCN9A):c.4507A>T (p.Lys1503Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=231507[alleleid]", "alleleId": 231507, "preferredName": "NM_001365536.1(SCN9A):c.4507A>T (p.Lys1503Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/234766", "RCV": [ "RCV000220058" ], "variationId": 234766 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.167060732T>A?assembly=hg19", "id": "chr2:g.167060732T>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.166204222T>A?assembly=hg38", "id": "chr2:g.166204222T>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/876661206", "rs": 876661206 } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 166204222, "referenceAllele": "T", "start": 166204221 } ], "hgvs": [ "NC_000002.12:g.166204222T>A", "CM000664.2:g.166204222T>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 167060732, "referenceAllele": "T", "start": 167060731 } ], "hgvs": [ "NC_000002.11:g.167060732T>A", "CM000664.1:g.167060732T>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 166768978, "referenceAllele": "T", "start": 166768977 } ], "hgvs": [ "NC_000002.10:g.166768978T>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "T", "end": 176766, "referenceAllele": "A", "start": 176765 } ], "hgvs": [ "NG_012798.1:g.176766A>T", "LRG_369:g.176766A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS002537" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 4755, "referenceAllele": "A", "start": 4754 } ], "gene": "http://reg.genome.network/gene/GN010597", "geneNCBI_id": 6335, "geneSymbol": "SCN9A", "hgvs": [ "ENST00000303354.11:c.4507A>T" ], "proteinEffect": { "hgvs": "ENSP00000304748.7:p.Lys1503Ter", "hgvsWellDefined": "ENSP00000304748.7:p.Lys1503_Lys1988delinsIleGlnGlyCysIlePheAspLeuValThrAsnGlnAlaPheAspIleSerIleMetValLeuIleCysLeuAsnMetValThrMetMetValGluLysGluGlyGlnSerGlnHisMetThrGluValLeuTyrTrpIleAsnValValPheIleIleLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrValGlyTrpAsnIlePheAspPheValValValIleIleSerIleValGlyMetPheLeuAlaAspLeuIleGluThrTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuValLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysLysGluAspGlyIleAsnAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProLysLysValHisProGlySerSerValGluGlyAspCysGlyAsnProSerValGlyIlePheTyrPheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerThrGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheIleGluPheSerLysLeuSerAspPheAlaAlaAlaLeuAspProProLeuLeuIleAlaLysProAsnLysValGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspSerLeuArgSerGlnMetGluGluArgPheMetSerAlaAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysGlnGluAspValSerAlaThrValIleGlnArgAlaTyrArgArgTyrArgLeuArgGlnAsnValLysAsnIleSerSerIleTyrIleLysAspGlyAspArgAspAspAspLeuLeuAsnLysLysAspMetAlaPheAspAsnValAsnGluAsnSerSerProGluLysThrAspAlaThrSerSerThrThrSerProProSerTyrAspSerValThrLysProAspLysGluLysTyrGluGlnAspArgThrGluLysGluAspLysGlyLysAspSerLysGluSerLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS745024" }, { "coordinates": [ { "allele": "T", "end": 4507, "referenceAllele": "A", "start": 4506 } ], "gene": "http://reg.genome.network/gene/GN010597", "geneNCBI_id": 6335, "geneSymbol": "SCN9A", "hgvs": [ "ENST00000409435.6:c.4507A>T" ], "proteinEffect": { "hgvs": "ENSP00000386330.2:p.Lys1503Ter", "hgvsWellDefined": "ENSP00000386330.2:p.Lys1503_Lys1988delinsIleGlnGlyCysIlePheAspLeuValThrAsnGlnAlaPheAspIleSerIleMetValLeuIleCysLeuAsnMetValThrMetMetValGluLysGluGlyGlnSerGlnHisMetThrGluValLeuTyrTrpIleAsnValValPheIleIleLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrValGlyTrpAsnIlePheAspPheValValValIleIleSerIleValGlyMetPheLeuAlaAspLeuIleGluThrTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuValLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysLysGluAspGlyIleAsnAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProLysLysValHisProGlySerSerValGluGlyAspCysGlyAsnProSerValGlyIlePheTyrPheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerThrGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheIleGluPheSerLysLeuSerAspPheAlaAlaAlaLeuAspProProLeuLeuIleAlaLysProAsnLysValGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspSerLeuArgSerGlnMetGluGluArgPheMetSerAlaAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysGlnGluAspValSerAlaThrValIleGlnArgAlaTyrArgArgTyrArgLeuArgGlnAsnValLysAsnIleSerSerIleTyrIleLysAspGlyAspArgAspAspAspLeuLeuAsnLysLysAspMetAlaPheAspAsnValAsnGluAsnSerSerProGluLysThrAspAlaThrSerSerThrThrSerProProSerTyrAspSerValThrLysProAspLysGluLysTyrGluGlnAspArgThrGluLysGluAspLysGlyLysAspSerLysGluSerLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS754301" }, { "coordinates": [ { "allele": "T", "end": 4805, "referenceAllele": "A", "start": 4804 } ], "gene": "http://reg.genome.network/gene/GN010597", "geneNCBI_id": 6335, "geneSymbol": "SCN9A", "hgvs": [ "ENST00000642356.2:c.4507A>T" ], "proteinEffect": { "hgvs": "ENSP00000495601.1:p.Lys1503Ter", "hgvsWellDefined": "ENSP00000495601.1:p.Lys1503_Lys1988delinsIleGlnGlyCysIlePheAspLeuValThrAsnGlnAlaPheAspIleSerIleMetValLeuIleCysLeuAsnMetValThrMetMetValGluLysGluGlyGlnSerGlnHisMetThrGluValLeuTyrTrpIleAsnValValPheIleIleLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrValGlyTrpAsnIlePheAspPheValValValIleIleSerIleValGlyMetPheLeuAlaAspLeuIleGluThrTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuValLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysLysGluAspGlyIleAsnAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProLysLysValHisProGlySerSerValGluGlyAspCysGlyAsnProSerValGlyIlePheTyrPheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerThrGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheIleGluPheSerLysLeuSerAspPheAlaAlaAlaLeuAspProProLeuLeuIleAlaLysProAsnLysValGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspSerLeuArgSerGlnMetGluGluArgPheMetSerAlaAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysGlnGluAspValSerAlaThrValIleGlnArgAlaTyrArgArgTyrArgLeuArgGlnAsnValLysAsnIleSerSerIleTyrIleLysAspGlyAspArgAspAspAspLeuLeuAsnLysLysAspMetAlaPheAspAsnValAsnGluAsnSerSerProGluLysThrAspAlaThrSerSerThrThrSerProProSerTyrAspSerValThrLysProAspLysGluLysTyrGluGlnAspArgThrGluLysGluAspLysGlyLysAspSerLysGluSerLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766697", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000642356.2:c.4507A>T" }, "RefSeq": { "hgvs": "NM_001365536.1:c.4507A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000495601.1:p.Lys1503Ter" }, "RefSeq": { "hgvs": "NP_001352465.1:p.Lys1503Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 4351, "referenceAllele": "A", "start": 4350 } ], "gene": "http://reg.genome.network/gene/GN010597", "geneNCBI_id": 6335, "geneSymbol": "SCN9A", "hgvs": [ "ENST00000644316.1:c.4351A>T" ], "proteinEffect": { "hgvs": "ENSP00000493939.1:p.Lys1451Ter", "hgvsWellDefined": "ENSP00000493939.1:p.Lys1451_Lys1936delinsIleGlnGlyCysIlePheAspLeuValThrAsnGlnAlaPheAspIleSerIleMetValLeuIleCysLeuAsnMetValThrMetMetValGluLysGluGlyGlnSerGlnHisMetThrGluValLeuTyrTrpIleAsnValValPheIleIleLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrValGlyTrpAsnIlePheAspPheValValValIleIleSerIleValGlyMetPheLeuAlaAspLeuIleGluThrTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuValLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysLysGluAspGlyIleAsnAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProLysLysValHisProGlySerSerValGluGlyAspCysGlyAsnProSerValGlyIlePheTyrPheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerThrGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheIleGluPheSerLysLeuSerAspPheAlaAlaAlaLeuAspProProLeuLeuIleAlaLysProAsnLysValGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspSerLeuArgSerGlnMetGluGluArgPheMetSerAlaAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysGlnGluAspValSerAlaThrValIleGlnArgAlaTyrArgArgTyrArgLeuArgGlnAsnValLysAsnIleSerSerIleTyrIleLysAspGlyAspArgAspAspAspLeuLeuAsnLysLysAspMetAlaPheAspAsnValAsnGluAsnSerSerProGluLysThrAspAlaThrSerSerThrThrSerProProSerTyrAspSerValThrLysProAspLysGluLysTyrGluGlnAspArgThrGluLysGluAspLysGlyLysAspSerLysGluSerLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767756" }, { "coordinates": [ { "allele": "T", "end": 4722, "referenceAllele": "A", "start": 4721 } ], "gene": "http://reg.genome.network/gene/GN010597", "geneNCBI_id": 6335, "geneSymbol": "SCN9A", "hgvs": [ "ENST00000645907.1:c.4474A>T" ], "proteinEffect": { "hgvs": "ENSP00000495983.1:p.Lys1492Ter", "hgvsWellDefined": "ENSP00000495983.1:p.Lys1492_Lys1977delinsIleGlnGlyCysIlePheAspLeuValThrAsnGlnAlaPheAspIleSerIleMetValLeuIleCysLeuAsnMetValThrMetMetValGluLysGluGlyGlnSerGlnHisMetThrGluValLeuTyrTrpIleAsnValValPheIleIleLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrValGlyTrpAsnIlePheAspPheValValValIleIleSerIleValGlyMetPheLeuAlaAspLeuIleGluThrTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuValLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysLysGluAspGlyIleAsnAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProLysLysValHisProGlySerSerValGluGlyAspCysGlyAsnProSerValGlyIlePheTyrPheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerThrGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheIleGluPheSerLysLeuSerAspPheAlaAlaAlaLeuAspProProLeuLeuIleAlaLysProAsnLysValGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspSerLeuArgSerGlnMetGluGluArgPheMetSerAlaAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysGlnGluAspValSerAlaThrValIleGlnArgAlaTyrArgArgTyrArgLeuArgGlnAsnValLysAsnIleSerSerIleTyrIleLysAspGlyAspArgAspAspAspLeuLeuAsnLysLysAspMetAlaPheAspAsnValAsnGluAsnSerSerProGluLysThrAspAlaThrSerSerThrThrSerProProSerTyrAspSerValThrLysProAspLysGluLysTyrGluGlnAspArgThrGluLysGluAspLysGlyLysAspSerLysGluSerLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768602" }, { "coordinates": [ { "allele": "T", "end": 884, "referenceAllele": "A", "start": 883 } ], "gene": "http://reg.genome.network/gene/GN010597", "geneNCBI_id": 6335, "geneSymbol": "SCN9A", "hgvs": [ "ENST00000646694.1:n.884A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS769016" }, { "coordinates": [ { "allele": "T", "end": 4848, "referenceAllele": "A", "start": 4847 } ], "gene": "http://reg.genome.network/gene/GN010597", "geneNCBI_id": 6335, "geneSymbol": "SCN9A", "hgvs": [ "ENST00000303354.10:c.4507A>T" ], "proteinEffect": { "hgvs": "ENSP00000304748.7:p.Lys1503Ter", "hgvsWellDefined": "ENSP00000304748.7:p.Lys1503_Lys1988delinsIleGlnGlyCysIlePheAspLeuValThrAsnGlnAlaPheAspIleSerIleMetValLeuIleCysLeuAsnMetValThrMetMetValGluLysGluGlyGlnSerGlnHisMetThrGluValLeuTyrTrpIleAsnValValPheIleIleLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrValGlyTrpAsnIlePheAspPheValValValIleIleSerIleValGlyMetPheLeuAlaAspLeuIleGluThrTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuValLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysLysGluAspGlyIleAsnAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProLysLysValHisProGlySerSerValGluGlyAspCysGlyAsnProSerValGlyIlePheTyrPheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerThrGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheIleGluPheSerLysLeuSerAspPheAlaAlaAlaLeuAspProProLeuLeuIleAlaLysProAsnLysValGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspSerLeuArgSerGlnMetGluGluArgPheMetSerAlaAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysGlnGluAspValSerAlaThrValIleGlnArgAlaTyrArgArgTyrArgLeuArgGlnAsnValLysAsnIleSerSerIleTyrIleLysAspGlyAspArgAspAspAspLeuLeuAsnLysLysAspMetAlaPheAspAsnValAsnGluAsnSerSerProGluLysThrAspAlaThrSerSerThrThrSerProProSerTyrAspSerValThrLysProAspLysGluLysTyrGluGlnAspArgThrGluLysGluAspLysGlyLysAspSerLysGluSerLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS255307" }, { "coordinates": [ { "allele": "T", "end": 4507, "referenceAllele": "A", "start": 4506 } ], "gene": "http://reg.genome.network/gene/GN010597", "geneNCBI_id": 6335, "geneSymbol": "SCN9A", "hgvs": [ "ENST00000409435.5:c.4507A>T" ], "proteinEffect": { "hgvs": "ENSP00000386330.1:p.Lys1503Ter", "hgvsWellDefined": "ENSP00000386330.1:p.Lys1503_Lys1988delinsIleGlnGlyCysIlePheAspLeuValThrAsnGlnAlaPheAspIleSerIleMetValLeuIleCysLeuAsnMetValThrMetMetValGluLysGluGlyGlnSerGlnHisMetThrGluValLeuTyrTrpIleAsnValValPheIleIleLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrValGlyTrpAsnIlePheAspPheValValValIleIleSerIleValGlyMetPheLeuAlaAspLeuIleGluThrTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuValLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysLysGluAspGlyIleAsnAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProLysLysValHisProGlySerSerValGluGlyAspCysGlyAsnProSerValGlyIlePheTyrPheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerThrGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheIleGluPheSerLysLeuSerAspPheAlaAlaAlaLeuAspProProLeuLeuIleAlaLysProAsnLysValGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspSerLeuArgSerGlnMetGluGluArgPheMetSerAlaAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysGlnGluAspValSerAlaThrValIleGlnArgAlaTyrArgArgTyrArgLeuArgGlnAsnValLysAsnIleSerSerIleTyrIleLysAspGlyAspArgAspAspAspLeuLeuAsnLysLysAspMetAlaPheAspAsnValAsnGluAsnSerSerProGluLysThrAspAlaThrSerSerThrThrSerProProSerTyrAspSerValThrLysProAspLysGluLysTyrGluGlnAspArgThrGluLysGluAspLysGlyLysAspSerLysGluSerLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS281545" }, { "coordinates": [ { "allele": "T", "end": 4821, "referenceAllele": "A", "start": 4820 } ], "gene": "http://reg.genome.network/gene/GN010597", "geneNCBI_id": 6335, "geneSymbol": "SCN9A", "hgvs": [ "ENST00000409672.5:c.4474A>T" ], "proteinEffect": { "hgvs": "ENSP00000386306.1:p.Lys1492Ter", "hgvsWellDefined": "ENSP00000386306.1:p.Lys1492_Lys1977delinsIleGlnGlyCysIlePheAspLeuValThrAsnGlnAlaPheAspIleSerIleMetValLeuIleCysLeuAsnMetValThrMetMetValGluLysGluGlyGlnSerGlnHisMetThrGluValLeuTyrTrpIleAsnValValPheIleIleLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrValGlyTrpAsnIlePheAspPheValValValIleIleSerIleValGlyMetPheLeuAlaAspLeuIleGluThrTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuValLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysLysGluAspGlyIleAsnAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProLysLysValHisProGlySerSerValGluGlyAspCysGlyAsnProSerValGlyIlePheTyrPheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerThrGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheIleGluPheSerLysLeuSerAspPheAlaAlaAlaLeuAspProProLeuLeuIleAlaLysProAsnLysValGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspSerLeuArgSerGlnMetGluGluArgPheMetSerAlaAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysGlnGluAspValSerAlaThrValIleGlnArgAlaTyrArgArgTyrArgLeuArgGlnAsnValLysAsnIleSerSerIleTyrIleLysAspGlyAspArgAspAspAspLeuLeuAsnLysLysAspMetAlaPheAspAsnValAsnGluAsnSerSerProGluLysThrAspAlaThrSerSerThrThrSerProProSerTyrAspSerValThrLysProAspLysGluLysTyrGluGlnAspArgThrGluLysGluAspLysGlyLysAspSerLysGluSerLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS281751" }, { "@id": "http://reg.genome.network/allele/PA645391661", "coordinates": [ { "allele": "T", "end": 4815, "referenceAllele": "A", "start": 4814 } ], "gene": "http://reg.genome.network/gene/GN010597", "geneNCBI_id": 6335, "geneSymbol": "SCN9A", "hgvs": [ "NM_002977.3:c.4474A>T", "LRG_369t1:c.4474A>T" ], "proteinEffect": { "hgvs": "NP_002968.1:p.Lys1492Ter", "hgvsWellDefined": "NP_002968.1:p.Lys1492_Lys1977delinsIleGlnGlyCysIlePheAspLeuValThrAsnGlnAlaPheAspIleSerIleMetValLeuIleCysLeuAsnMetValThrMetMetValGluLysGluGlyGlnSerGlnHisMetThrGluValLeuTyrTrpIleAsnValValPheIleIleLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrValGlyTrpAsnIlePheAspPheValValValIleIleSerIleValGlyMetPheLeuAlaAspLeuIleGluThrTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuValLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysLysGluAspGlyIleAsnAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProLysLysValHisProGlySerSerValGluGlyAspCysGlyAsnProSerValGlyIlePheTyrPheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerThrGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheIleGluPheSerLysLeuSerAspPheAlaAlaAlaLeuAspProProLeuLeuIleAlaLysProAsnLysValGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspSerLeuArgSerGlnMetGluGluArgPheMetSerAlaAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysGlnGluAspValSerAlaThrValIleGlnArgAlaTyrArgArgTyrArgLeuArgGlnAsnValLysAsnIleSerSerIleTyrIleLysAspGlyAspArgAspAspAspLeuLeuAsnLysLysAspMetAlaPheAspAsnValAsnGluAsnSerSerProGluLysThrAspAlaThrSerSerThrThrSerProProSerTyrAspSerValThrLysProAspLysGluLysTyrGluGlnAspArgThrGluLysGluAspLysGlyLysAspSerLysGluSerLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS028260" }, { "coordinates": [ { "allele": "A", "end": 611, "endIntronDirection": "+", "endIntronOffset": 4404, "referenceAllele": "T", "start": 611, "startIntronDirection": "+", "startIntronOffset": 4403 } ], "gene": "http://reg.genome.network/gene/GN054069", "geneNCBI_id": 101929680, "geneSymbol": "SCN1A-AS1", "hgvs": [ "NR_110260.1:n.611+4404T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS054541" }, { "coordinates": [ { "allele": "T", "end": 4821, "referenceAllele": "A", "start": 4820 } ], "gene": "http://reg.genome.network/gene/GN010597", "geneNCBI_id": 6335, "geneSymbol": "SCN9A", "hgvs": [ "XM_005246757.1:c.4507A>T" ], "proteinEffect": { "hgvs": "XP_005246814.1:p.Lys1503Ter", "hgvsWellDefined": "XP_005246814.1:p.Lys1503_Lys1988delinsIleGlnGlyCysIlePheAspLeuValThrAsnGlnAlaPheAspIleSerIleMetValLeuIleCysLeuAsnMetValThrMetMetValGluLysGluGlyGlnSerGlnHisMetThrGluValLeuTyrTrpIleAsnValValPheIleIleLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrValGlyTrpAsnIlePheAspPheValValValIleIleSerIleValGlyMetPheLeuAlaAspLeuIleGluThrTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuValLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysLysGluAspGlyIleAsnAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProLysLysValHisProGlySerSerValGluGlyAspCysGlyAsnProSerValGlyIlePheTyrPheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerThrGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheIleGluPheSerLysLeuSerAspPheAlaAlaAlaLeuAspProProLeuLeuIleAlaLysProAsnLysValGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspSerLeuArgSerGlnMetGluGluArgPheMetSerAlaAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysGlnGluAspValSerAlaThrValIleGlnArgAlaTyrArgArgTyrArgLeuArgGlnAsnValLysAsnIleSerSerIleTyrIleLysAspGlyAspArgAspAspAspLeuLeuAsnLysLysAspMetAlaPheAspAsnValAsnGluAsnSerSerProGluLysThrAspAlaThrSerSerThrThrSerProProSerTyrAspSerValThrLysProAspLysGluLysTyrGluGlnAspArgThrGluLysGluAspLysGlyLysAspSerLysGluSerLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057779" }, { "coordinates": [ { "allele": "T", "end": 4769, "referenceAllele": "A", "start": 4768 } ], "gene": "http://reg.genome.network/gene/GN010597", "geneNCBI_id": 6335, "geneSymbol": "SCN9A", "hgvs": [ "XM_011511616.1:c.4507A>T" ], "proteinEffect": { "hgvs": "XP_011509918.1:p.Lys1503Ter", "hgvsWellDefined": "XP_011509918.1:p.Lys1503_Lys1988delinsIleGlnGlyCysIlePheAspLeuValThrAsnGlnAlaPheAspIleSerIleMetValLeuIleCysLeuAsnMetValThrMetMetValGluLysGluGlyGlnSerGlnHisMetThrGluValLeuTyrTrpIleAsnValValPheIleIleLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrValGlyTrpAsnIlePheAspPheValValValIleIleSerIleValGlyMetPheLeuAlaAspLeuIleGluThrTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuValLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysLysGluAspGlyIleAsnAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProLysLysValHisProGlySerSerValGluGlyAspCysGlyAsnProSerValGlyIlePheTyrPheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerThrGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheIleGluPheSerLysLeuSerAspPheAlaAlaAlaLeuAspProProLeuLeuIleAlaLysProAsnLysValGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspSerLeuArgSerGlnMetGluGluArgPheMetSerAlaAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysGlnGluAspValSerAlaThrValIleGlnArgAlaTyrArgArgTyrArgLeuArgGlnAsnValLysAsnIleSerSerIleTyrIleLysAspGlyAspArgAspAspAspLeuLeuAsnLysLysAspMetAlaPheAspAsnValAsnGluAsnSerSerProGluLysThrAspAlaThrSerSerThrThrSerProProSerTyrAspSerValThrLysProAspLysGluLysTyrGluGlnAspArgThrGluLysGluAspLysGlyLysAspSerLysGluSerLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078877" }, { "coordinates": [ { "allele": "T", "end": 4821, "referenceAllele": "A", "start": 4820 } ], "gene": "http://reg.genome.network/gene/GN010597", "geneNCBI_id": 6335, "geneSymbol": "SCN9A", "hgvs": [ "XM_011511617.1:c.4507A>T" ], "proteinEffect": { "hgvs": "XP_011509919.1:p.Lys1503Ter", "hgvsWellDefined": "XP_011509919.1:p.Lys1503_Lys1988delinsIleGlnGlyCysIlePheAspLeuValThrAsnGlnAlaPheAspIleSerIleMetValLeuIleCysLeuAsnMetValThrMetMetValGluLysGluGlyGlnSerGlnHisMetThrGluValLeuTyrTrpIleAsnValValPheIleIleLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrValGlyTrpAsnIlePheAspPheValValValIleIleSerIleValGlyMetPheLeuAlaAspLeuIleGluThrTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuValLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysLysGluAspGlyIleAsnAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProLysLysValHisProGlySerSerValGluGlyAspCysGlyAsnProSerValGlyIlePheTyrPheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerThrGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheIleGluPheSerLysLeuSerAspPheAlaAlaAlaLeuAspProProLeuLeuIleAlaLysProAsnLysValGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspSerLeuArgSerGlnMetGluGluArgPheMetSerAlaAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysGlnGluAspValSerAlaThrValIleGlnArgAlaTyrArgArgTyrArgLeuArgGlnAsnValLysAsnIleSerSerIleTyrIleLysAspGlyAspArgAspAspAspLeuLeuAsnLysLysAspMetAlaPheAspAsnValAsnGluAsnSerSerProGluLysThrAspAlaThrSerSerThrThrSerProProSerTyrAspSerValThrLysProAspLysGluLysTyrGluGlnAspArgThrGluLysGluAspLysGlyLysAspSerLysGluSerLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078878" }, { "coordinates": [ { "allele": "T", "end": 4788, "referenceAllele": "A", "start": 4787 } ], "gene": "http://reg.genome.network/gene/GN010597", "geneNCBI_id": 6335, "geneSymbol": "SCN9A", "hgvs": [ "XM_011511618.1:c.4474A>T" ], "proteinEffect": { "hgvs": "XP_011509920.1:p.Lys1492Ter", "hgvsWellDefined": "XP_011509920.1:p.Lys1492_Lys1977delinsIleGlnGlyCysIlePheAspLeuValThrAsnGlnAlaPheAspIleSerIleMetValLeuIleCysLeuAsnMetValThrMetMetValGluLysGluGlyGlnSerGlnHisMetThrGluValLeuTyrTrpIleAsnValValPheIleIleLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrValGlyTrpAsnIlePheAspPheValValValIleIleSerIleValGlyMetPheLeuAlaAspLeuIleGluThrTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuValLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysLysGluAspGlyIleAsnAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProLysLysValHisProGlySerSerValGluGlyAspCysGlyAsnProSerValGlyIlePheTyrPheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerThrGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheIleGluPheSerLysLeuSerAspPheAlaAlaAlaLeuAspProProLeuLeuIleAlaLysProAsnLysValGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspSerLeuArgSerGlnMetGluGluArgPheMetSerAlaAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysGlnGluAspValSerAlaThrValIleGlnArgAlaTyrArgArgTyrArgLeuArgGlnAsnValLysAsnIleSerSerIleTyrIleLysAspGlyAspArgAspAspAspLeuLeuAsnLysLysAspMetAlaPheAspAsnValAsnGluAsnSerSerProGluLysThrAspAlaThrSerSerThrThrSerProProSerTyrAspSerValThrLysProAspLysGluLysTyrGluGlnAspArgThrGluLysGluAspLysGlyLysAspSerLysGluSerLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078879" }, { "coordinates": [ { "allele": "T", "end": 4817, "endIntronDirection": "+", "endIntronOffset": 138, "referenceAllele": "A", "start": 4817, "startIntronDirection": "+", "startIntronOffset": 137 } ], "gene": "http://reg.genome.network/gene/GN010597", "geneNCBI_id": 6335, "geneSymbol": "SCN9A", "hgvs": [ "XM_011511619.1:c.4503+138A>T" ], "proteinEffect": { "hgvs": "XP_011509921.1:n.4503+138A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS078880" }, { "@id": "http://reg.genome.network/allele/PA916045431", "coordinates": [ { "allele": "T", "end": 4805, "referenceAllele": "A", "start": 4804 } ], "gene": "http://reg.genome.network/gene/GN010597", "geneNCBI_id": 6335, "geneSymbol": "SCN9A", "hgvs": [ "NM_001365536.1:c.4507A>T" ], "proteinEffect": { "hgvs": "NP_001352465.1:p.Lys1503Ter", "hgvsWellDefined": "NP_001352465.1:p.Lys1503_Lys1988delinsIleGlnGlyCysIlePheAspLeuValThrAsnGlnAlaPheAspIleSerIleMetValLeuIleCysLeuAsnMetValThrMetMetValGluLysGluGlyGlnSerGlnHisMetThrGluValLeuTyrTrpIleAsnValValPheIleIleLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrValGlyTrpAsnIlePheAspPheValValValIleIleSerIleValGlyMetPheLeuAlaAspLeuIleGluThrTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuValLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysLysGluAspGlyIleAsnAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProLysLysValHisProGlySerSerValGluGlyAspCysGlyAsnProSerValGlyIlePheTyrPheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerThrGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheIleGluPheSerLysLeuSerAspPheAlaAlaAlaLeuAspProProLeuLeuIleAlaLysProAsnLysValGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspSerLeuArgSerGlnMetGluGluArgPheMetSerAlaAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysGlnGluAspValSerAlaThrValIleGlnArgAlaTyrArgArgTyrArgLeuArgGlnAsnValLysAsnIleSerSerIleTyrIleLysAspGlyAspArgAspAspAspLeuLeuAsnLysLysAspMetAlaPheAspAsnValAsnGluAsnSerSerProGluLysThrAspAlaThrSerSerThrThrSerProProSerTyrAspSerValThrLysProAspLysGluLysTyrGluGlnAspArgThrGluLysGluAspLysGlyLysAspSerLysGluSerLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS524144", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000642356.2:c.4507A>T" }, "RefSeq": { "hgvs": "NM_001365536.1:c.4507A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000495601.1:p.Lys1503Ter" }, "RefSeq": { "hgvs": "NP_001352465.1:p.Lys1503Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 4783, "referenceAllele": "A", "start": 4782 } ], "gene": "http://reg.genome.network/gene/GN010597", "geneNCBI_id": 6335, "geneSymbol": "SCN9A", "hgvs": [ "XM_011511616.3:c.4507A>T" ], "proteinEffect": { "hgvs": "XP_011509918.1:p.Lys1503Ter", "hgvsWellDefined": "XP_011509918.1:p.Lys1503_Lys1988delinsIleGlnGlyCysIlePheAspLeuValThrAsnGlnAlaPheAspIleSerIleMetValLeuIleCysLeuAsnMetValThrMetMetValGluLysGluGlyGlnSerGlnHisMetThrGluValLeuTyrTrpIleAsnValValPheIleIleLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrValGlyTrpAsnIlePheAspPheValValValIleIleSerIleValGlyMetPheLeuAlaAspLeuIleGluThrTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuValLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysLysGluAspGlyIleAsnAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProLysLysValHisProGlySerSerValGluGlyAspCysGlyAsnProSerValGlyIlePheTyrPheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerThrGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheIleGluPheSerLysLeuSerAspPheAlaAlaAlaLeuAspProProLeuLeuIleAlaLysProAsnLysValGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspSerLeuArgSerGlnMetGluGluArgPheMetSerAlaAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysGlnGluAspValSerAlaThrValIleGlnArgAlaTyrArgArgTyrArgLeuArgGlnAsnValLysAsnIleSerSerIleTyrIleLysAspGlyAspArgAspAspAspLeuLeuAsnLysLysAspMetAlaPheAspAsnValAsnGluAsnSerSerProGluLysThrAspAlaThrSerSerThrThrSerProProSerTyrAspSerValThrLysProAspLysGluLysTyrGluGlnAspArgThrGluLysGluAspLysGlyLysAspSerLysGluSerLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS542212" }, { "coordinates": [ { "allele": "T", "end": 4821, "referenceAllele": "A", "start": 4820 } ], "gene": "http://reg.genome.network/gene/GN010597", "geneNCBI_id": 6335, "geneSymbol": "SCN9A", "hgvs": [ "XM_011511617.2:c.4507A>T" ], "proteinEffect": { "hgvs": "XP_011509919.1:p.Lys1503Ter", "hgvsWellDefined": "XP_011509919.1:p.Lys1503_Lys1988delinsIleGlnGlyCysIlePheAspLeuValThrAsnGlnAlaPheAspIleSerIleMetValLeuIleCysLeuAsnMetValThrMetMetValGluLysGluGlyGlnSerGlnHisMetThrGluValLeuTyrTrpIleAsnValValPheIleIleLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrValGlyTrpAsnIlePheAspPheValValValIleIleSerIleValGlyMetPheLeuAlaAspLeuIleGluThrTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuValLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysLysGluAspGlyIleAsnAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProLysLysValHisProGlySerSerValGluGlyAspCysGlyAsnProSerValGlyIlePheTyrPheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerThrGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheIleGluPheSerLysLeuSerAspPheAlaAlaAlaLeuAspProProLeuLeuIleAlaLysProAsnLysValGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspSerLeuArgSerGlnMetGluGluArgPheMetSerAlaAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysGlnGluAspValSerAlaThrValIleGlnArgAlaTyrArgArgTyrArgLeuArgGlnAsnValLysAsnIleSerSerIleTyrIleLysAspGlyAspArgAspAspAspLeuLeuAsnLysLysAspMetAlaPheAspAsnValAsnGluAsnSerSerProGluLysThrAspAlaThrSerSerThrThrSerProProSerTyrAspSerValThrLysProAspLysGluLysTyrGluGlnAspArgThrGluLysGluAspLysGlyLysAspSerLysGluSerLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS542213" }, { "coordinates": [ { "allele": "T", "end": 4788, "referenceAllele": "A", "start": 4787 } ], "gene": "http://reg.genome.network/gene/GN010597", "geneNCBI_id": 6335, "geneSymbol": "SCN9A", "hgvs": [ "XM_011511618.2:c.4474A>T" ], "proteinEffect": { "hgvs": "XP_011509920.1:p.Lys1492Ter", "hgvsWellDefined": "XP_011509920.1:p.Lys1492_Lys1977delinsIleGlnGlyCysIlePheAspLeuValThrAsnGlnAlaPheAspIleSerIleMetValLeuIleCysLeuAsnMetValThrMetMetValGluLysGluGlyGlnSerGlnHisMetThrGluValLeuTyrTrpIleAsnValValPheIleIleLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrValGlyTrpAsnIlePheAspPheValValValIleIleSerIleValGlyMetPheLeuAlaAspLeuIleGluThrTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuValLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysLysGluAspGlyIleAsnAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProLysLysValHisProGlySerSerValGluGlyAspCysGlyAsnProSerValGlyIlePheTyrPheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerThrGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheIleGluPheSerLysLeuSerAspPheAlaAlaAlaLeuAspProProLeuLeuIleAlaLysProAsnLysValGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspSerLeuArgSerGlnMetGluGluArgPheMetSerAlaAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysGlnGluAspValSerAlaThrValIleGlnArgAlaTyrArgArgTyrArgLeuArgGlnAsnValLysAsnIleSerSerIleTyrIleLysAspGlyAspArgAspAspAspLeuLeuAsnLysLysAspMetAlaPheAspAsnValAsnGluAsnSerSerProGluLysThrAspAlaThrSerSerThrThrSerProProSerTyrAspSerValThrLysProAspLysGluLysTyrGluGlnAspArgThrGluLysGluAspLysGlyLysAspSerLysGluSerLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS542214" }, { "coordinates": [ { "allele": "T", "end": 4817, "endIntronDirection": "+", "endIntronOffset": 138, "referenceAllele": "A", "start": 4817, "startIntronDirection": "+", "startIntronOffset": 137 } ], "gene": "http://reg.genome.network/gene/GN010597", "geneNCBI_id": 6335, "geneSymbol": "SCN9A", "hgvs": [ "XM_011511619.2:c.4503+138A>T" ], "proteinEffect": { "hgvs": "XP_011509921.1:n.4503+138A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS542215" }, { "coordinates": [ { "allele": "T", "end": 4350, "referenceAllele": "A", "start": 4349 } ], "gene": "http://reg.genome.network/gene/GN010597", "geneNCBI_id": 6335, "geneSymbol": "SCN9A", "hgvs": [ "XM_017004668.1:c.4120A>T" ], "proteinEffect": { "hgvs": "XP_016860157.1:p.Lys1374Ter", "hgvsWellDefined": "XP_016860157.1:p.Lys1374_Lys1859delinsIleGlnGlyCysIlePheAspLeuValThrAsnGlnAlaPheAspIleSerIleMetValLeuIleCysLeuAsnMetValThrMetMetValGluLysGluGlyGlnSerGlnHisMetThrGluValLeuTyrTrpIleAsnValValPheIleIleLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrValGlyTrpAsnIlePheAspPheValValValIleIleSerIleValGlyMetPheLeuAlaAspLeuIleGluThrTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuValLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysLysGluAspGlyIleAsnAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProLysLysValHisProGlySerSerValGluGlyAspCysGlyAsnProSerValGlyIlePheTyrPheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerThrGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheIleGluPheSerLysLeuSerAspPheAlaAlaAlaLeuAspProProLeuLeuIleAlaLysProAsnLysValGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspSerLeuArgSerGlnMetGluGluArgPheMetSerAlaAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysGlnGluAspValSerAlaThrValIleGlnArgAlaTyrArgArgTyrArgLeuArgGlnAsnValLysAsnIleSerSerIleTyrIleLysAspGlyAspArgAspAspAspLeuLeuAsnLysLysAspMetAlaPheAspAsnValAsnGluAsnSerSerProGluLysThrAspAlaThrSerSerThrThrSerProProSerTyrAspSerValThrLysProAspLysGluLysTyrGluGlnAspArgThrGluLysGluAspLysGlyLysAspSerLysGluSerLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS560118" }, { "coordinates": [ { "allele": "T", "end": 3908, "referenceAllele": "A", "start": 3907 } ], "gene": "http://reg.genome.network/gene/GN010597", "geneNCBI_id": 6335, "geneSymbol": "SCN9A", "hgvs": [ "XM_017004669.1:c.3763A>T" ], "proteinEffect": { "hgvs": "XP_016860158.1:p.Lys1255Ter", "hgvsWellDefined": "XP_016860158.1:p.Lys1255_Lys1740delinsIleGlnGlyCysIlePheAspLeuValThrAsnGlnAlaPheAspIleSerIleMetValLeuIleCysLeuAsnMetValThrMetMetValGluLysGluGlyGlnSerGlnHisMetThrGluValLeuTyrTrpIleAsnValValPheIleIleLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgHisTyrTyrPheThrValGlyTrpAsnIlePheAspPheValValValIleIleSerIleValGlyMetPheLeuAlaAspLeuIleGluThrTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuValLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysLysGluAspGlyIleAsnAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProLysLysValHisProGlySerSerValGluGlyAspCysGlyAsnProSerValGlyIlePheTyrPheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerThrGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheIleGluPheSerLysLeuSerAspPheAlaAlaAlaLeuAspProProLeuLeuIleAlaLysProAsnLysValGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspSerLeuArgSerGlnMetGluGluArgPheMetSerAlaAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysGlnGluAspValSerAlaThrValIleGlnArgAlaTyrArgArgTyrArgLeuArgGlnAsnValLysAsnIleSerSerIleTyrIleLysAspGlyAspArgAspAspAspLeuLeuAsnLysLysAspMetAlaPheAspAsnValAsnGluAsnSerSerProGluLysThrAspAlaThrSerSerThrThrSerProProSerTyrAspSerValThrLysProAspLysGluLysTyrGluGlnAspArgThrGluLysGluAspLysGlyLysAspSerLysGluSerLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS560119" } ], "type": "nucleotide" }