{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA404339210", "communityStandardTitle": [ "NM_001127222.2(CACNA1A):c.4382G>A (p.Trp1461Ter)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.13370384C>T?assembly=hg19", "id": "chr19:g.13370384C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.13259570C>T?assembly=hg38", "id": "chr19:g.13259570C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1209081392", "rs": 1209081392 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/19-13370384-C-T?dataset=gnomad_r2_1", "id": "19-13370384-C-T", "variant": "19:13370384 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/19-13259570-C-T?dataset=gnomad_r4", "id": "19-13259570-C-T", "variant": "19:13259570 C / T" } ] }, "genomicAlleles": [ { "chromosome": "19", "coordinates": [ { "allele": "T", "end": 13259570, "referenceAllele": "C", "start": 13259569 } ], "hgvs": [ "NC_000019.10:g.13259570C>T", "CM000681.2:g.13259570C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000067" }, { "chromosome": "19", "coordinates": [ { "allele": "T", "end": 13370384, "referenceAllele": "C", "start": 13370383 } ], "hgvs": [ "NC_000019.9:g.13370384C>T", "CM000681.1:g.13370384C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000043" }, { "chromosome": "19", "coordinates": [ { "allele": "T", "end": 13231384, "referenceAllele": "C", "start": 13231383 } ], "hgvs": [ "NC_000019.8:g.13231384C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000019" }, { "coordinates": [ { "allele": "A", "end": 251891, "referenceAllele": "G", "start": 251890 } ], "hgvs": [ "NG_011569.1:g.251891G>A", "LRG_7:g.251891G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001829" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 4637, "referenceAllele": "G", "start": 4636 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000360228.11:c.4382G>A" ], "proteinEffect": { "hgvs": "ENSP00000353362.5:p.Trp1461Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS749291", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000360228.11:c.4382G>A" }, "RefSeq": { "hgvs": "NM_001127222.2:c.4382G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000353362.5:p.Trp1461Ter" }, "RefSeq": { "hgvs": "NP_001120694.1:p.Trp1461Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 4419, "referenceAllele": "G", "start": 4418 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000573710.7:c.4388G>A" ], "proteinEffect": { "hgvs": "ENSP00000460092.3:p.Trp1463Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS760716" }, { "coordinates": [ { "allele": "A", "end": 3136, "referenceAllele": "G", "start": 3135 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000590205.2:n.3136G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS761191" }, { "coordinates": [ { "allele": "A", "end": 4385, "referenceAllele": "G", "start": 4384 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000635727.1:c.4385G>A" ], "proteinEffect": { "hgvs": "ENSP00000490001.1:p.Trp1462Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS762598" }, { "coordinates": [ { "allele": "A", "end": 371, "referenceAllele": "G", "start": 370 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000635742.1:n.371G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS762608" }, { "coordinates": [ { "allele": "A", "end": 4656, "referenceAllele": "G", "start": 4655 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000635895.1:c.4385G>A" ], "proteinEffect": { "hgvs": "ENSP00000490323.1:p.Trp1462Ter", "hgvsWellDefined": "ENSP00000490323.1:p.Trp1462_Gln2261delinsProGlnValLeuLysHisSerValAspAlaThrPheGluAsnGlnGlyProSerProGlyTyrArgMetGluMetSerIlePheTyrValValTyrPheValValPheProPhePhePheValAsnIlePheValAlaLeuIleIleIleThrPheGlnGluGlnGlyAspLysMetMetGluGluTyrSerLeuGluLysAsnGluArgAlaCysIleAspPheAlaIleSerAlaLysProLeuThrArgHisMetProGlnAsnLysGlnSerPheGlnTyrArgMetTrpGlnPheValValSerProProPheGluTyrThrIleMetAlaMetIleAlaLeuAsnThrIleValLeuMetMetLysPheTyrGlyAlaSerValAlaTyrGluAsnAlaLeuArgValPheAsnIleValPheThrSerLeuPheSerLeuGluCysValLeuLysValMetAlaPheGlyIleLeuAsnTyrPheArgAspAlaTrpAsnIlePheAspPheValThrValLeuGlySerIleThrAspIleLeuValThrGluPheGlyAsnAsnPheIleAsnLeuSerPheLeuArgLeuPheArgAlaAlaArgLeuIleLysLeuLeuArgGlnGlyTyrThrIleArgIleLeuLeuTrpThrPheValGlnSerPheLysAlaLeuProTyrValCysLeuLeuIleAlaMetLeuPhePheIleTyrAlaIleIleGlyMetGlnValPheGlyAsnIleGlyIleAspValGluAspGluAspSerAspGluAspGluPheGlnIleThrGluHisAsnAsnPheArgThrPhePheGlnAlaLeuMetLeuLeuPheArgSerAlaThrGlyGluAlaTrpHisAsnIleMetLeuSerCysLeuSerGlyLysProCysAspLysAsnSerGlyIleLeuThrArgGluCysGlyAsnGluPheAlaTyrPheTyrPheValSerPheIlePheLeuCysSerPheLeuMetLeuAsnLeuPheValAlaValIleMetAspAsnPheGluTyrLeuThrArgAspSerSerIleLeuGlyProHisHisLeuAspGluTyrValArgValTrpAlaGluTyrAspProAlaAlaTrpGlyArgMetProTyrLeuAspMetTyrGlnMetLeuArgHisMetSerProProLeuGlyLeuGlyLysLysCysProAlaArgValAlaTyrLysArgLeuLeuArgMetAspLeuProValAlaAspAspAsnThrValHisPheAsnSerThrLeuMetAlaLeuIleArgThrAlaLeuAspIleLysIleAlaLysGlyGlyAlaAspLysGlnGlnMetAspAlaGluLeuArgLysGluMetMetAlaIleTrpProAsnLeuSerGlnLysThrLeuAspLeuLeuValThrProHisLysSerThrAspLeuThrValGlyLysIleTyrAlaAlaMetMetIleMetGluTyrTyrArgGlnSerLysAlaLysLysLeuGlnAlaMetArgGluGluGlnAspArgThrProLeuMetPheGlnArgMetGluProProSerProThrGlnGluGlyGlyProGlyGlnAsnAlaLeuProSerThrGlnLeuAspProGlyGlyAlaLeuMetAlaHisGluSerGlyLeuLysGluSerProSerTrpValThrGlnArgAlaGlnGluMetPheGlnLysThrGlyThrTrpSerProGluGlnGlyProProThrAspMetProAsnSerGlnProAsnSerGlnSerValGluMetArgGluMetGlyArgAspGlyTyrSerAspSerGluHisTyrLeuProMetGluGlyGlnGlyArgAlaAlaSerMetProArgLeuProAlaGluAsnGlnArgArgArgGlyArgProArgGlyAsnAsnLeuSerThrIleSerAspThrSerProMetLysArgSerAlaSerValLeuGlyProLysAlaArgArgLeuAspAspTyrSerLeuGluArgValProProGluGluAsnGlnArgHisHisGlnArgArgArgAspArgSerHisArgAlaSerGluArgSerLeuGlyArgTyrThrAspValAspThrGlyLeuGlyThrAspLeuSerMetThrThrGlnSerGlyAspLeuProSerLysGluArgAspGlnGluArgGlyArgProLysAspArgLysHisArgGlnHisHisHisHisHisHisHisHisHisHisProProProProAspLysAspArgTyrAlaGlnGluArgProAspHisGlyArgAlaArgAlaArgAspGlnArgTrpSerArgSerProSerGluGlyArgGluHisMetAlaHisArgGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS762719" }, { "coordinates": [ { "allele": "A", "end": 874, "referenceAllele": "G", "start": 873 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000635917.1:n.874G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS762734" }, { "coordinates": [ { "allele": "A", "end": 4385, "referenceAllele": "G", "start": 4384 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000636012.1:c.4385G>A" ], "proteinEffect": { "hgvs": "ENSP00000490223.1:p.Trp1462Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS762807" }, { "coordinates": [ { "allele": "A", "end": 4433, "referenceAllele": "G", "start": 4432 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000636389.1:c.4385G>A" ], "proteinEffect": { "hgvs": "ENSP00000489992.1:p.Trp1462Ter", "hgvsWellDefined": "ENSP00000489992.1:p.Trp1462_Pro2302delinsProGlnValLeuLysHisSerValAspAlaThrPheGluAsnGlnGlyProSerProGlyTyrArgMetGluMetSerIlePheTyrValValTyrPheValValPheProPhePhePheValAsnIlePheValAlaLeuIleIleIleThrPheGlnGluGlnGlyAspLysMetMetGluGluTyrSerLeuGluLysAsnGluArgAlaCysIleAspPheAlaIleSerAlaLysProLeuThrArgHisMetProGlnAsnLysGlnSerPheGlnTyrArgMetTrpGlnPheValValSerProProPheGluTyrThrIleMetAlaMetIleAlaLeuAsnThrIleValLeuMetMetLysPheTyrGlyAlaSerValAlaTyrGluAsnAlaLeuArgValPheAsnIleValPheThrSerLeuPheSerLeuGluCysValLeuLysValMetAlaPheGlyIleLeuAsnTyrPheArgAspAlaTrpAsnIlePheAspPheValThrValLeuGlySerIleThrAspIleLeuValThrGluPheGlyAsnAsnPheIleAsnLeuSerPheLeuArgLeuPheArgAlaAlaArgLeuIleLysLeuLeuArgGlnGlyTyrThrIleArgIleLeuLeuTrpThrPheValGlnSerPheLysAlaLeuProTyrValCysLeuLeuIleAlaMetLeuPhePheIleTyrAlaIleIleGlyMetGlnValPheGlyAsnIleGlyIleAspValGluAspGluAspSerAspGluAspGluPheGlnIleThrGluHisAsnAsnPheArgThrPhePheGlnAlaLeuMetLeuLeuPheArgSerAlaThrGlyGluAlaTrpHisAsnIleMetLeuSerCysLeuSerGlyLysProCysAspLysAsnSerGlyIleLeuThrArgGluCysGlyAsnGluPheAlaTyrPheTyrPheValSerPheIlePheLeuCysSerPheLeuMetLeuAsnLeuPheValAlaValIleMetAspAsnPheGluTyrLeuThrArgAspSerSerIleLeuGlyProHisHisLeuAspGluTyrValArgValTrpAlaGluTyrAspProAlaAlaCysGlyArgIleHisTyrLysAspMetTyrSerLeuLeuArgValIleSerProProLeuGlyLeuGlyLysLysCysProHisArgValAlaCysLysArgLeuLeuArgMetAspLeuProValAlaAspAspAsnThrValHisPheAsnSerThrLeuMetAlaLeuIleArgThrAlaLeuAspIleLysIleAlaLysGlyGlyAlaAspLysGlnGlnMetAspAlaGluLeuArgLysGluMetMetAlaIleTrpProAsnLeuSerGlnLysThrLeuAspLeuLeuValThrProHisLysSerThrAspLeuThrValGlyLysIleTyrAlaAlaMetMetIleMetGluTyrTyrArgGlnSerLysAlaLysLysLeuGlnAlaMetArgGluGluGlnAspArgThrProLeuMetPheGlnArgMetGluProProSerProThrGlnGluGlyGlyProGlyGlnAsnAlaLeuProSerThrGlnLeuAspProGlyGlyAlaLeuMetAlaHisGluSerGlyLeuLysGluSerProSerTrpValThrGlnArgAlaGlnGluMetPheGlnLysThrGlyThrTrpSerProGluGlnGlyProProThrAspMetProAsnSerGlnProAsnSerGlnSerValGluMetArgGluMetGlyArgAspGlyTyrSerAspSerGluHisTyrLeuProMetGluGlyGlnGlyArgAlaAlaSerMetProArgLeuProAlaGluAsnGlnArgArgArgGlyArgProArgGlyAsnAsnLeuSerThrIleSerAspThrSerProMetLysArgSerAlaSerValLeuGlyProLysAlaArgArgLeuAspAspTyrSerLeuGluArgValProProGluGluAsnGlnArgHisHisGlnArgArgArgAspArgSerHisArgAlaSerGluArgSerLeuGlyArgTyrThrAspValAspThrGlyLeuGlyThrAspLeuSerMetThrThrGlnSerGlyAspLeuProSerLysGluArgAspGlnGluArgGlyArgProLysAspArgLysHisArgGlnHisHisHisHisHisHisHisHisHisHisProProProProAspLysAspArgTyrAlaGlnGluArgProAspHisGlyArgAlaArgAlaArgAspGlnArgTrpSerArgSerProSerGluGlyArgGluHisMetAlaHisArgGlnPheArgLysTrpLysProSerProLeuAsnIleTrpTyrGlnHisSerAlaAlaGlyProProProAlaProProAspProLeuHisProProAlaThrArgValLeuPheProCysAspProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763077" }, { "coordinates": [ { "allele": "A", "end": 4385, "referenceAllele": "G", "start": 4384 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000636549.1:c.4385G>A" ], "proteinEffect": { "hgvs": "ENSP00000490578.1:p.Trp1462Ter", "hgvsWellDefined": "ENSP00000490578.1:p.Trp1462_Gln2263delinsProGlnValLeuLysHisSerValAspAlaThrPheGluAsnGlnGlyProSerProGlyTyrArgMetGluMetSerIlePheTyrValValTyrPheValValPheProPhePhePheValAsnIlePheValAlaLeuIleIleIleThrPheGlnGluGlnGlyAspLysMetMetGluGluTyrSerLeuGluLysAsnGluArgAlaCysIleAspPheAlaIleSerAlaLysProLeuThrArgHisMetProGlnAsnLysGlnSerPheGlnTyrArgMetTrpGlnPheValValSerProProPheGluTyrThrIleMetAlaMetIleAlaLeuAsnThrIleValLeuMetMetLysPheTyrGlyAlaSerValAlaTyrGluAsnAlaLeuArgValPheAsnIleValPheThrSerLeuPheSerLeuGluCysValLeuLysValMetAlaPheGlyIleLeuAsnTyrPheArgAspAlaTrpAsnIlePheAspPheValThrValLeuGlySerIleThrAspIleLeuValThrGluPheGlyAsnProAsnAsnPheIleAsnLeuSerPheLeuArgLeuPheArgAlaAlaArgLeuIleLysLeuLeuArgGlnGlyTyrThrIleArgIleLeuLeuTrpThrPheValGlnSerPheLysAlaLeuProTyrValCysLeuLeuIleAlaMetLeuPhePheIleTyrAlaIleIleGlyMetGlnValPheGlyAsnIleGlyIleAspValGluAspGluAspSerAspGluAspGluPheGlnIleThrGluHisAsnAsnPheArgThrPhePheGlnAlaLeuMetLeuLeuPheArgSerAlaThrGlyGluAlaTrpHisAsnIleMetLeuSerCysLeuSerGlyLysProCysAspLysAsnSerGlyIleLeuThrArgGluCysGlyAsnGluPheAlaTyrPheTyrPheValSerPheIlePheLeuCysSerPheLeuMetLeuAsnLeuPheValAlaValIleMetAspAsnPheGluTyrLeuThrArgAspSerSerIleLeuGlyProHisHisLeuAspGluTyrValArgValTrpAlaGluTyrAspProAlaAlaTrpGlyArgMetProTyrLeuAspMetTyrGlnMetLeuArgHisMetSerProProLeuGlyLeuGlyLysLysCysProAlaArgValAlaTyrLysArgLeuLeuArgMetAspLeuProValAlaAspAspAsnThrValHisPheAsnSerThrLeuMetAlaLeuIleArgThrAlaLeuAspIleLysIleAlaLysGlyGlyAlaAspLysGlnGlnMetAspAlaGluLeuArgLysGluMetMetAlaIleTrpProAsnLeuSerGlnLysThrLeuAspLeuLeuValThrProHisLysSerThrAspLeuThrValGlyLysIleTyrAlaAlaMetMetIleMetGluTyrTyrArgGlnSerLysAlaLysLysLeuGlnAlaMetArgGluGluGlnAspArgThrProLeuMetPheGlnArgMetGluProProSerProThrGlnGluGlyGlyProGlyGlnAsnAlaLeuProSerThrGlnLeuAspProGlyGlyAlaLeuMetAlaHisGluSerGlyLeuLysGluSerProSerTrpValThrGlnArgAlaGlnGluMetPheGlnLysThrGlyThrTrpSerProGluGlnGlyProProThrAspMetProAsnSerGlnProAsnSerGlnSerValGluMetArgGluMetGlyArgAspGlyTyrSerAspSerGluHisTyrLeuProMetGluGlyGlnGlyArgAlaAlaSerMetProArgLeuProAlaGluAsnGlnArgArgArgGlyArgProArgGlyAsnAsnLeuSerThrIleSerAspThrSerProMetLysArgSerAlaSerValLeuGlyProLysAlaArgArgLeuAspAspTyrSerLeuGluArgValProProGluGluAsnGlnArgHisHisGlnArgArgArgAspArgSerHisArgAlaSerGluArgSerLeuGlyArgTyrThrAspValAspThrGlyLeuGlyThrAspLeuSerMetThrThrGlnSerGlyAspLeuProSerLysGluArgAspGlnGluArgGlyArgProLysAspArgLysHisArgGlnHisHisHisHisHisHisHisHisHisHisProProProProAspLysAspArgTyrAlaGlnGluArgProAspHisGlyArgAlaArgAlaArgAspGlnArgTrpSerArgSerProSerGluGlyArgGluHisMetAlaHisArgGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763201" }, { "coordinates": [ { "allele": "A", "end": 1070, "referenceAllele": "G", "start": 1069 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000636816.1:n.1070G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS763403" }, { "coordinates": [ { "allele": "A", "end": 665, "referenceAllele": "G", "start": 664 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000636984.1:n.665G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS763521" }, { "coordinates": [ { "allele": "A", "end": 848, "referenceAllele": "G", "start": 847 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000637004.1:n.848G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS763540" }, { "coordinates": [ { "allele": "A", "end": 4385, "referenceAllele": "G", "start": 4384 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000637276.1:c.4385G>A" ], "proteinEffect": { "hgvs": "ENSP00000489777.1:p.Trp1462Ter", "hgvsWellDefined": "ENSP00000489777.1:p.Trp1462_Gln2249delinsProGlnValLeuLysHisSerValAspAlaThrPheGluAsnGlnGlyProSerProGlyTyrArgMetGluMetSerIlePheTyrValValTyrPheValValPheProPhePhePheValAsnIlePheValAlaLeuIleIleIleThrPheGlnGluGlnGlyAspLysMetMetGluGluTyrSerLeuGluLysAsnGluArgAlaCysIleAspPheAlaIleSerAlaLysProLeuThrArgHisMetProGlnAsnLysGlnSerPheGlnTyrArgMetTrpGlnPheValValSerProProPheGluTyrThrIleMetAlaMetIleAlaLeuAsnThrIleValLeuMetMetLysPheTyrGlyAlaSerValAlaTyrGluAsnAlaLeuArgValPheAsnIleValPheThrSerLeuPheSerLeuGluCysValLeuLysValMetAlaPheGlyIleLeuAsnTyrPheArgAspAlaTrpAsnIlePheAspPheValThrValLeuGlySerIleThrAspIleLeuValThrGluPheGlyAsnAsnPheIleAsnLeuSerPheLeuArgLeuPheArgAlaAlaArgLeuIleLysLeuLeuArgGlnGlyTyrThrIleArgIleLeuLeuTrpThrPheValGlnSerPheLysAlaLeuProTyrValCysLeuLeuIleAlaMetLeuPhePheIleTyrAlaIleIleGlyMetGlnValPheGlyAsnIleGlyIleAspValGluAspGluAspSerAspGluAspGluPheGlnIleThrGluHisAsnAsnPheArgThrPhePheGlnAlaLeuMetLeuLeuPheArgSerAlaThrGlyGluAlaTrpHisAsnIleMetLeuSerCysLeuSerGlyLysProCysAspLysAsnSerGlyIleLeuThrArgGluCysGlyAsnGluPheAlaTyrPheTyrPheValSerPheIlePheLeuCysSerPheLeuMetLeuAsnLeuPheValAlaValIleMetAspAsnPheGluTyrLeuThrArgAspSerSerIleLeuGlyProHisHisLeuAspGluTyrValArgValTrpAlaGluTyrAspProAlaAlaTrpGlyArgMetProTyrLeuAspMetTyrGlnMetLeuArgHisMetSerProProLeuGlyLeuGlyLysLysCysProAlaArgValAlaTyrLysArgLeuLeuArgMetAspLeuProValAlaAspAspAsnThrValHisPheAsnSerThrLeuMetAlaLeuIleArgThrAlaLeuAspIleLysIleAlaLysGlyGlyAlaAspLysGlnGlnMetAspAlaGluLeuArgLysGluMetMetAlaIleTrpProAsnLeuSerGlnLysThrLeuAspLeuLeuValThrProHisLysSerThrAspLeuThrValGlyLysIleTyrAlaAlaMetMetIleMetGluTyrTyrArgGlnSerLysAlaLysLysLeuGlnAlaMetArgGluGluGlnAspArgThrProLeuMetPheGlnArgMetGluProProSerProThrGlnGluGlyGlyProGlyGlnAsnAlaLeuProSerThrGlnLeuAspProGlyGlyAlaLeuMetAlaHisGluSerGlyLeuLysGluSerProSerTrpValThrGlnArgAlaGlnGluMetPheGlnLysThrGlyThrTrpSerProGluGlnGlyProProThrAspMetProAsnSerGlnProAsnSerGlnSerValGluMetArgGluMetGlyArgAspGlyTyrSerAspSerGluHisTyrLeuProMetGluGlyGlnGlyArgAlaAlaSerMetProArgLeuProAlaGluAsnGlnThrIleSerAspThrSerProMetLysArgSerAlaSerValLeuGlyProLysAlaArgArgLeuAspAspTyrSerLeuGluArgValProProGluGluAsnGlnArgHisHisGlnArgArgArgAspArgSerHisArgAlaSerGluArgSerLeuGlyArgTyrThrAspValAspThrGlyLeuGlyThrAspLeuSerMetThrThrGlnSerGlyAspLeuProSerLysGluArgAspGlnGluArgGlyArgProLysAspArgLysHisArgGlnHisHisHisHisHisHisHisHisHisHisProProProProAspLysAspArgTyrAlaGlnGluArgProAspHisGlyArgAlaArgAlaArgAspGlnArgTrpSerArgSerProSerGluGlyArgGluHisMetAlaHisArgGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763746" }, { "coordinates": [ { "allele": "A", "end": 38, "referenceAllele": "G", "start": 37 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000637297.1:c.38G>A" ], "proteinEffect": { "hgvs": "ENSP00000489692.1:p.Trp13Ter", "hgvsWellDefined": "ENSP00000489692.1:p.Trp13Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS763763" }, { "coordinates": [ { "allele": "A", "end": 4630, "referenceAllele": "G", "start": 4629 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000637432.1:c.4394G>A" ], "proteinEffect": { "hgvs": "ENSP00000490617.1:p.Trp1465Ter", "hgvsWellDefined": "ENSP00000490617.1:p.Trp1465_Gln2266delinsProGlnValLeuLysHisSerValAspAlaThrPheGluAsnGlnGlyProSerProGlyTyrArgMetGluMetSerIlePheTyrValValTyrPheValValPheProPhePhePheValAsnIlePheValAlaLeuIleIleIleThrPheGlnGluGlnGlyAspLysMetMetGluGluTyrSerLeuGluLysAsnGluArgAlaCysIleAspPheAlaIleSerAlaLysProLeuThrArgHisMetProGlnAsnLysGlnSerPheGlnTyrArgMetTrpGlnPheValValSerProProPheGluTyrThrIleMetAlaMetIleAlaLeuAsnThrIleValLeuMetMetLysPheTyrGlyAlaSerValAlaTyrGluAsnAlaLeuArgValPheAsnIleValPheThrSerLeuPheSerLeuGluCysValLeuLysValMetAlaPheGlyIleLeuAsnTyrPheArgAspAlaTrpAsnIlePheAspPheValThrValLeuGlySerIleThrAspIleLeuValThrGluPheGlyAsnProAsnAsnPheIleAsnLeuSerPheLeuArgLeuPheArgAlaAlaArgLeuIleLysLeuLeuArgGlnGlyTyrThrIleArgIleLeuLeuTrpThrPheValGlnSerPheLysAlaLeuProTyrValCysLeuLeuIleAlaMetLeuPhePheIleTyrAlaIleIleGlyMetGlnValPheGlyAsnIleGlyIleAspValGluAspGluAspSerAspGluAspGluPheGlnIleThrGluHisAsnAsnPheArgThrPhePheGlnAlaLeuMetLeuLeuPheArgSerAlaThrGlyGluAlaTrpHisAsnIleMetLeuSerCysLeuSerGlyLysProCysAspLysAsnSerGlyIleLeuThrArgGluCysGlyAsnGluPheAlaTyrPheTyrPheValSerPheIlePheLeuCysSerPheLeuMetLeuAsnLeuPheValAlaValIleMetAspAsnPheGluTyrLeuThrArgAspSerSerIleLeuGlyProHisHisLeuAspGluTyrValArgValTrpAlaGluTyrAspProAlaAlaTrpGlyArgMetProTyrLeuAspMetTyrGlnMetLeuArgHisMetSerProProLeuGlyLeuGlyLysLysCysProAlaArgValAlaTyrLysArgLeuLeuArgMetAspLeuProValAlaAspAspAsnThrValHisPheAsnSerThrLeuMetAlaLeuIleArgThrAlaLeuAspIleLysIleAlaLysGlyGlyAlaAspLysGlnGlnMetAspAlaGluLeuArgLysGluMetMetAlaIleTrpProAsnLeuSerGlnLysThrLeuAspLeuLeuValThrProHisLysSerThrAspLeuThrValGlyLysIleTyrAlaAlaMetMetIleMetGluTyrTyrArgGlnSerLysAlaLysLysLeuGlnAlaMetArgGluGluGlnAspArgThrProLeuMetPheGlnArgMetGluProProSerProThrGlnGluGlyGlyProGlyGlnAsnAlaLeuProSerThrGlnLeuAspProGlyGlyAlaLeuMetAlaHisGluSerGlyLeuLysGluSerProSerTrpValThrGlnArgAlaGlnGluMetPheGlnLysThrGlyThrTrpSerProGluGlnGlyProProThrAspMetProAsnSerGlnProAsnSerGlnSerValGluMetArgGluMetGlyArgAspGlyTyrSerAspSerGluHisTyrLeuProMetGluGlyGlnGlyArgAlaAlaSerMetProArgLeuProAlaGluAsnGlnArgArgArgGlyArgProArgGlyAsnAsnLeuSerThrIleSerAspThrSerProMetLysArgSerAlaSerValLeuGlyProLysAlaArgArgLeuAspAspTyrSerLeuGluArgValProProGluGluAsnGlnArgHisHisGlnArgArgArgAspArgSerHisArgAlaSerGluArgSerLeuGlyArgTyrThrAspValAspThrGlyLeuGlyThrAspLeuSerMetThrThrGlnSerGlyAspLeuProSerLysGluArgAspGlnGluArgGlyArgProLysAspArgLysHisArgGlnHisHisHisHisHisHisHisHisHisHisProProProProAspLysAspArgTyrAlaGlnGluArgProAspHisGlyArgAlaArgAlaArgAspGlnArgTrpSerArgSerProSerGluGlyArgGluHisMetAlaHisArgGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763858" }, { "coordinates": [ { "allele": "A", "end": 704, "referenceAllele": "G", "start": 703 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000637692.1:n.704G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS764041" }, { "coordinates": [ { "allele": "A", "end": 4479, "referenceAllele": "G", "start": 4478 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000637736.1:c.4244G>A" ], "proteinEffect": { "hgvs": "ENSP00000489861.1:p.Trp1415Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS764074" }, { "coordinates": [ { "allele": "A", "end": 4641, "referenceAllele": "G", "start": 4640 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000637769.1:c.4385G>A" ], "proteinEffect": { "hgvs": "ENSP00000489778.1:p.Trp1462Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS764094" }, { "coordinates": [ { "allele": "A", "end": 4419, "referenceAllele": "G", "start": 4418 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000637927.1:c.4388G>A" ], "proteinEffect": { "hgvs": "ENSP00000489715.1:p.Trp1463Ter", "hgvsWellDefined": "ENSP00000489715.1:p.Trp1463_Gln2262delinsProGlnValLeuLysHisSerValAspAlaThrPheGluAsnGlnGlyProSerProGlyTyrArgMetGluMetSerIlePheTyrValValTyrPheValValPheProPhePhePheValAsnIlePheValAlaLeuIleIleIleThrPheGlnGluGlnGlyAspLysMetMetGluGluTyrSerLeuGluLysAsnGluArgAlaCysIleAspPheAlaIleSerAlaLysProLeuThrArgHisMetProGlnAsnLysGlnSerPheGlnTyrArgMetTrpGlnPheValValSerProProPheGluTyrThrIleMetAlaMetIleAlaLeuAsnThrIleValLeuMetMetLysPheTyrGlyAlaSerValAlaTyrGluAsnAlaLeuArgValPheAsnIleValPheThrSerLeuPheSerLeuGluCysValLeuLysValMetAlaPheGlyIleLeuAsnTyrPheArgAspAlaTrpAsnIlePheAspPheValThrValLeuGlySerIleThrAspIleLeuValThrGluPheGlyAsnAsnPheIleAsnLeuSerPheLeuArgLeuPheArgAlaAlaArgLeuIleLysLeuLeuArgGlnGlyTyrThrIleArgIleLeuLeuTrpThrPheValGlnSerPheLysAlaLeuProTyrValCysLeuLeuIleAlaMetLeuPhePheIleTyrAlaIleIleGlyMetGlnValPheGlyAsnIleGlyIleAspValGluAspGluAspSerAspGluAspGluPheGlnIleThrGluHisAsnAsnPheArgThrPhePheGlnAlaLeuMetLeuLeuPheArgSerAlaThrGlyGluAlaTrpHisAsnIleMetLeuSerCysLeuSerGlyLysProCysAspLysAsnSerGlyIleLeuThrArgGluCysGlyAsnGluPheAlaTyrPheTyrPheValSerPheIlePheLeuCysSerPheLeuMetLeuAsnLeuPheValAlaValIleMetAspAsnPheGluTyrLeuThrArgAspSerSerIleLeuGlyProHisHisLeuAspGluTyrValArgValTrpAlaGluTyrAspProAlaAlaCysGlyArgIleHisTyrLysAspMetTyrSerLeuLeuArgValIleSerProProLeuGlyLeuGlyLysLysCysProHisArgValAlaCysLysArgLeuLeuArgMetAspLeuProValAlaAspAspAsnThrValHisPheAsnSerThrLeuMetAlaLeuIleArgThrAlaLeuAspIleLysIleAlaLysGlyGlyAlaAspLysGlnGlnMetAspAlaGluLeuArgLysGluMetMetAlaIleTrpProAsnLeuSerGlnLysThrLeuAspLeuLeuValThrProHisLysSerThrAspLeuThrValGlyLysIleTyrAlaAlaMetMetIleMetGluTyrTyrArgGlnSerLysAlaLysLysLeuGlnAlaMetArgGluGluGlnAspArgThrProLeuMetPheGlnArgMetGluProProSerProThrGlnGluGlyGlyProGlyGlnAsnAlaLeuProSerThrGlnLeuAspProGlyGlyAlaLeuMetAlaHisGluSerGlyLeuLysGluSerProSerTrpValThrGlnArgAlaGlnGluMetPheGlnLysThrGlyThrTrpSerProGluGlnGlyProProThrAspMetProAsnSerGlnProAsnSerGlnSerValGluMetArgGluMetGlyArgAspGlyTyrSerAspSerGluHisTyrLeuProMetGluGlyGlnGlyArgAlaAlaSerMetProArgLeuProAlaGluAsnGlnArgArgArgGlyArgProArgGlyAsnAsnLeuSerThrIleSerAspThrSerProMetLysArgSerAlaSerValLeuGlyProLysAlaArgArgLeuAspAspTyrSerLeuGluArgValProProGluGluAsnGlnArgHisHisGlnArgArgArgAspArgSerHisArgAlaSerGluArgSerLeuGlyArgTyrThrAspValAspThrGlyLeuGlyThrAspLeuSerMetThrThrGlnSerGlyAspLeuProSerLysGluArgAspGlnGluArgGlyArgProLysAspArgLysHisArgGlnHisHisHisHisHisHisHisHisHisHisProProProProAspLysAspArgTyrAlaGlnGluArgProAspHisGlyArgAlaArgAlaArgAspGlnArgTrpSerArgSerProSerGluGlyArgGluHisMetAlaHisArgGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS764214" }, { "coordinates": [ { "allele": "A", "end": 4640, "referenceAllele": "G", "start": 4639 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000638009.2:c.4385G>A" ], "proteinEffect": { "hgvs": "ENSP00000489913.1:p.Trp1462Ter", "hgvsWellDefined": "ENSP00000489913.1:p.Trp1462_Gln2261delinsProGlnValLeuLysHisSerValAspAlaThrPheGluAsnGlnGlyProSerProGlyTyrArgMetGluMetSerIlePheTyrValValTyrPheValValPheProPhePhePheValAsnIlePheValAlaLeuIleIleIleThrPheGlnGluGlnGlyAspLysMetMetGluGluTyrSerLeuGluLysAsnGluArgAlaCysIleAspPheAlaIleSerAlaLysProLeuThrArgHisMetProGlnAsnLysGlnSerPheGlnTyrArgMetTrpGlnPheValValSerProProPheGluTyrThrIleMetAlaMetIleAlaLeuAsnThrIleValLeuMetMetLysPheTyrGlyAlaSerValAlaTyrGluAsnAlaLeuArgValPheAsnIleValPheThrSerLeuPheSerLeuGluCysValLeuLysValMetAlaPheGlyIleLeuAsnTyrPheArgAspAlaTrpAsnIlePheAspPheValThrValLeuGlySerIleThrAspIleLeuValThrGluPheGlyAsnAsnPheIleAsnLeuSerPheLeuArgLeuPheArgAlaAlaArgLeuIleLysLeuLeuArgGlnGlyTyrThrIleArgIleLeuLeuTrpThrPheValGlnSerPheLysAlaLeuProTyrValCysLeuLeuIleAlaMetLeuPhePheIleTyrAlaIleIleGlyMetGlnValPheGlyAsnIleGlyIleAspValGluAspGluAspSerAspGluAspGluPheGlnIleThrGluHisAsnAsnPheArgThrPhePheGlnAlaLeuMetLeuLeuPheArgSerAlaThrGlyGluAlaTrpHisAsnIleMetLeuSerCysLeuSerGlyLysProCysAspLysAsnSerGlyIleLeuThrArgGluCysGlyAsnGluPheAlaTyrPheTyrPheValSerPheIlePheLeuCysSerPheLeuMetLeuAsnLeuPheValAlaValIleMetAspAsnPheGluTyrLeuThrArgAspSerSerIleLeuGlyProHisHisLeuAspGluTyrValArgValTrpAlaGluTyrAspProAlaAlaCysGlyArgIleHisTyrLysAspMetTyrSerLeuLeuArgValIleSerProProLeuGlyLeuGlyLysLysCysProHisArgValAlaCysLysArgLeuLeuArgMetAspLeuProValAlaAspAspAsnThrValHisPheAsnSerThrLeuMetAlaLeuIleArgThrAlaLeuAspIleLysIleAlaLysGlyGlyAlaAspLysGlnGlnMetAspAlaGluLeuArgLysGluMetMetAlaIleTrpProAsnLeuSerGlnLysThrLeuAspLeuLeuValThrProHisLysSerThrAspLeuThrValGlyLysIleTyrAlaAlaMetMetIleMetGluTyrTyrArgGlnSerLysAlaLysLysLeuGlnAlaMetArgGluGluGlnAspArgThrProLeuMetPheGlnArgMetGluProProSerProThrGlnGluGlyGlyProGlyGlnAsnAlaLeuProSerThrGlnLeuAspProGlyGlyAlaLeuMetAlaHisGluSerGlyLeuLysGluSerProSerTrpValThrGlnArgAlaGlnGluMetPheGlnLysThrGlyThrTrpSerProGluGlnGlyProProThrAspMetProAsnSerGlnProAsnSerGlnSerValGluMetArgGluMetGlyArgAspGlyTyrSerAspSerGluHisTyrLeuProMetGluGlyGlnGlyArgAlaAlaSerMetProArgLeuProAlaGluAsnGlnArgArgArgGlyArgProArgGlyAsnAsnLeuSerThrIleSerAspThrSerProMetLysArgSerAlaSerValLeuGlyProLysAlaArgArgLeuAspAspTyrSerLeuGluArgValProProGluGluAsnGlnArgHisHisGlnArgArgArgAspArgSerHisArgAlaSerGluArgSerLeuGlyArgTyrThrAspValAspThrGlyLeuGlyThrAspLeuSerMetThrThrGlnSerGlyAspLeuProSerLysGluArgAspGlnGluArgGlyArgProLysAspArgLysHisArgGlnHisHisHisHisHisHisHisHisHisHisProProProProAspLysAspArgTyrAlaGlnGluArgProAspHisGlyArgAlaArgAlaArgAspGlnArgTrpSerArgSerProSerGluGlyArgGluHisMetAlaHisArgGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS764272" }, { "coordinates": [ { "allele": "A", "end": 4630, "referenceAllele": "G", "start": 4629 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000638029.1:c.4394G>A" ], "proteinEffect": { "hgvs": "ENSP00000489829.1:p.Trp1465Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS764286" }, { "coordinates": [ { "allele": "A", "end": 4580, "referenceAllele": "G", "start": 4579 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000664864.1:c.4580G>A" ], "proteinEffect": { "hgvs": "ENSP00000499449.1:p.Trp1527Ter", "hgvsWellDefined": "ENSP00000499449.1:p.Trp1527_Gln2328delinsProGlnValLeuLysHisSerValAspAlaThrPheGluAsnGlnGlyProSerProGlyTyrArgMetGluMetSerIlePheTyrValValTyrPheValValPheProPhePhePheValAsnIlePheValAlaLeuIleIleIleThrPheGlnGluGlnGlyAspLysMetMetGluGluTyrSerLeuGluLysAsnGluArgAlaCysIleAspPheAlaIleSerAlaLysProLeuThrArgHisMetProGlnAsnLysGlnSerPheGlnTyrArgMetTrpGlnPheValValSerProProPheGluTyrThrIleMetAlaMetIleAlaLeuAsnThrIleValLeuMetMetLysPheTyrGlyAlaSerValAlaTyrGluAsnAlaLeuArgValPheAsnIleValPheThrSerLeuPheSerLeuGluCysValLeuLysValMetAlaPheGlyIleLeuAsnTyrPheArgAspAlaTrpAsnIlePheAspPheValThrValLeuGlySerIleThrAspIleLeuValThrGluPheGlyAsnProAsnAsnPheIleAsnLeuSerPheLeuArgLeuPheArgAlaAlaArgLeuIleLysLeuLeuArgGlnGlyTyrThrIleArgIleLeuLeuTrpThrPheValGlnSerPheLysAlaLeuProTyrValCysLeuLeuIleAlaMetLeuPhePheIleTyrAlaIleIleGlyMetGlnValPheGlyAsnIleGlyIleAspValGluAspGluAspSerAspGluAspGluPheGlnIleThrGluHisAsnAsnPheArgThrPhePheGlnAlaLeuMetLeuLeuPheArgSerAlaThrGlyGluAlaTrpHisAsnIleMetLeuSerCysLeuSerGlyLysProCysAspLysAsnSerGlyIleLeuThrArgGluCysGlyAsnGluPheAlaTyrPheTyrPheValSerPheIlePheLeuCysSerPheLeuMetLeuAsnLeuPheValAlaValIleMetAspAsnPheGluTyrLeuThrArgAspSerSerIleLeuGlyProHisHisLeuAspGluTyrValArgValTrpAlaGluTyrAspProAlaAlaTrpGlyArgMetProTyrLeuAspMetTyrGlnMetLeuArgHisMetSerProProLeuGlyLeuGlyLysLysCysProAlaArgValAlaTyrLysArgLeuLeuArgMetAspLeuProValAlaAspAspAsnThrValHisPheAsnSerThrLeuMetAlaLeuIleArgThrAlaLeuAspIleLysIleAlaLysGlyGlyAlaAspLysGlnGlnMetAspAlaGluLeuArgLysGluMetMetAlaIleTrpProAsnLeuSerGlnLysThrLeuAspLeuLeuValThrProHisLysSerThrAspLeuThrValGlyLysIleTyrAlaAlaMetMetIleMetGluTyrTyrArgGlnSerLysAlaLysLysLeuGlnAlaMetArgGluGluGlnAspArgThrProLeuMetPheGlnArgMetGluProProSerProThrGlnGluGlyGlyProGlyGlnAsnAlaLeuProSerThrGlnLeuAspProGlyGlyAlaLeuMetAlaHisGluSerGlyLeuLysGluSerProSerTrpValThrGlnArgAlaGlnGluMetPheGlnLysThrGlyThrTrpSerProGluGlnGlyProProThrAspMetProAsnSerGlnProAsnSerGlnSerValGluMetArgGluMetGlyArgAspGlyTyrSerAspSerGluHisTyrLeuProMetGluGlyGlnGlyArgAlaAlaSerMetProArgLeuProAlaGluAsnGlnArgArgArgGlyArgProArgGlyAsnAsnLeuSerThrIleSerAspThrSerProMetLysArgSerAlaSerValLeuGlyProLysAlaArgArgLeuAspAspTyrSerLeuGluArgValProProGluGluAsnGlnArgHisHisGlnArgArgArgAspArgSerHisArgAlaSerGluArgSerLeuGlyArgTyrThrAspValAspThrGlyLeuGlyThrAspLeuSerMetThrThrGlnSerGlyAspLeuProSerLysGluArgAspGlnGluArgGlyArgProLysAspArgLysHisArgGlnHisHisHisHisHisHisHisHisHisHisProProProProAspLysAspArgTyrAlaGlnGluArgProAspHisGlyArgAlaArgAlaArgAspGlnArgTrpSerArgSerProSerGluGlyArgGluHisMetAlaHisArgGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS772875" }, { "coordinates": [ { "allele": "A", "end": 4382, "referenceAllele": "G", "start": 4381 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000360228.9:c.4382G>A" ], "proteinEffect": { "hgvs": "ENSP00000353362.5:p.Trp1461Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS265055" }, { "coordinates": [ { "allele": "A", "end": 4664, "referenceAllele": "G", "start": 4663 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000573710.6:c.4385G>A" ], "proteinEffect": { "hgvs": "ENSP00000460092.2:p.Trp1462Ter", "hgvsWellDefined": "ENSP00000460092.2:p.Trp1462_Gln2261delinsProGlnValLeuLysHisSerValAspAlaThrPheGluAsnGlnGlyProSerProGlyTyrArgMetGluMetSerIlePheTyrValValTyrPheValValPheProPhePhePheValAsnIlePheValAlaLeuIleIleIleThrPheGlnGluGlnGlyAspLysMetMetGluGluTyrSerLeuGluLysAsnGluArgAlaCysIleAspPheAlaIleSerAlaLysProLeuThrArgHisMetProGlnAsnLysGlnSerPheGlnTyrArgMetTrpGlnPheValValSerProProPheGluTyrThrIleMetAlaMetIleAlaLeuAsnThrIleValLeuMetMetLysPheTyrGlyAlaSerValAlaTyrGluAsnAlaLeuArgValPheAsnIleValPheThrSerLeuPheSerLeuGluCysValLeuLysValMetAlaPheGlyIleLeuAsnTyrPheArgAspAlaTrpAsnIlePheAspPheValThrValLeuGlySerIleThrAspIleLeuValThrGluPheGlyAsnAsnPheIleAsnLeuSerPheLeuArgLeuPheArgAlaAlaArgLeuIleLysLeuLeuArgGlnGlyTyrThrIleArgIleLeuLeuTrpThrPheValGlnSerPheLysAlaLeuProTyrValCysLeuLeuIleAlaMetLeuPhePheIleTyrAlaIleIleGlyMetGlnValPheGlyAsnIleGlyIleAspValGluAspGluAspSerAspGluAspGluPheGlnIleThrGluHisAsnAsnPheArgThrPhePheGlnAlaLeuMetLeuLeuPheArgSerAlaThrGlyGluAlaTrpHisAsnIleMetLeuSerCysLeuSerGlyLysProCysAspLysAsnSerGlyIleLeuThrArgGluCysGlyAsnGluPheAlaTyrPheTyrPheValSerPheIlePheLeuCysSerPheLeuMetLeuAsnLeuPheValAlaValIleMetAspAsnPheGluTyrLeuThrArgAspSerSerIleLeuGlyProHisHisLeuAspGluTyrValArgValTrpAlaGluTyrAspProAlaAlaCysGlyArgIleHisTyrLysAspMetTyrSerLeuLeuArgValIleSerProProLeuGlyLeuGlyLysLysCysProHisArgValAlaCysLysArgLeuLeuArgMetAspLeuProValAlaAspAspAsnThrValHisPheAsnSerThrLeuMetAlaLeuIleArgThrAlaLeuAspIleLysIleAlaLysGlyGlyAlaAspLysGlnGlnMetAspAlaGluLeuArgLysGluMetMetAlaIleTrpProAsnLeuSerGlnLysThrLeuAspLeuLeuValThrProHisLysSerThrAspLeuThrValGlyLysIleTyrAlaAlaMetMetIleMetGluTyrTyrArgGlnSerLysAlaLysLysLeuGlnAlaMetArgGluGluGlnAspArgThrProLeuMetPheGlnArgMetGluProProSerProThrGlnGluGlyGlyProGlyGlnAsnAlaLeuProSerThrGlnLeuAspProGlyGlyAlaLeuMetAlaHisGluSerGlyLeuLysGluSerProSerTrpValThrGlnArgAlaGlnGluMetPheGlnLysThrGlyThrTrpSerProGluGlnGlyProProThrAspMetProAsnSerGlnProAsnSerGlnSerValGluMetArgGluMetGlyArgAspGlyTyrSerAspSerGluHisTyrLeuProMetGluGlyGlnGlyArgAlaAlaSerMetProArgLeuProAlaGluAsnGlnArgArgArgGlyArgProArgGlyAsnAsnLeuSerThrIleSerAspThrSerProMetLysArgSerAlaSerValLeuGlyProLysAlaArgArgLeuAspAspTyrSerLeuGluArgValProProGluGluAsnGlnArgHisHisGlnArgArgArgAspArgSerHisArgAlaSerGluArgSerLeuGlyArgTyrThrAspValAspThrGlyLeuGlyThrAspLeuSerMetThrThrGlnSerGlyAspLeuProSerLysGluArgAspGlnGluArgGlyArgProLysAspArgLysHisArgGlnHisHisHisHisHisHisHisHisHisHisProProProProAspLysAspArgTyrAlaGlnGluArgProAspHisGlyArgAlaArgAlaArgAspGlnArgTrpSerArgSerProSerGluGlyArgGluHisMetAlaHisArgGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS383401" }, { "coordinates": [ { "allele": "A", "end": 440, "referenceAllele": "G", "start": 439 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000585802.5:c.440G>A" ], "proteinEffect": { "hgvs": "ENSP00000465598.1:p.Trp147Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS388955" }, { "coordinates": [ { "allele": "A", "end": 4394, "referenceAllele": "G", "start": 4393 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "ENST00000614285.4:c.4394G>A" ], "proteinEffect": { "hgvs": "ENSP00000479983.1:p.Trp1465Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS402117" }, { "@id": "http://reg.genome.network/allele/PA2825012711", "coordinates": [ { "allele": "A", "end": 4630, "referenceAllele": "G", "start": 4629 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "NM_000068.3:c.4394G>A" ], "proteinEffect": { "hgvs": "NP_000059.3:p.Trp1465Ter", "hgvsWellDefined": "NP_000059.3:p.Trp1465_Gln2266delinsProGlnValLeuLysHisSerValAspAlaThrPheGluAsnGlnGlyProSerProGlyTyrArgMetGluMetSerIlePheTyrValValTyrPheValValPheProPhePhePheValAsnIlePheValAlaLeuIleIleIleThrPheGlnGluGlnGlyAspLysMetMetGluGluTyrSerLeuGluLysAsnGluArgAlaCysIleAspPheAlaIleSerAlaLysProLeuThrArgHisMetProGlnAsnLysGlnSerPheGlnTyrArgMetTrpGlnPheValValSerProProPheGluTyrThrIleMetAlaMetIleAlaLeuAsnThrIleValLeuMetMetLysPheTyrGlyAlaSerValAlaTyrGluAsnAlaLeuArgValPheAsnIleValPheThrSerLeuPheSerLeuGluCysValLeuLysValMetAlaPheGlyIleLeuAsnTyrPheArgAspAlaTrpAsnIlePheAspPheValThrValLeuGlySerIleThrAspIleLeuValThrGluPheGlyAsnProAsnAsnPheIleAsnLeuSerPheLeuArgLeuPheArgAlaAlaArgLeuIleLysLeuLeuArgGlnGlyTyrThrIleArgIleLeuLeuTrpThrPheValGlnSerPheLysAlaLeuProTyrValCysLeuLeuIleAlaMetLeuPhePheIleTyrAlaIleIleGlyMetGlnValPheGlyAsnIleGlyIleAspValGluAspGluAspSerAspGluAspGluPheGlnIleThrGluHisAsnAsnPheArgThrPhePheGlnAlaLeuMetLeuLeuPheArgSerAlaThrGlyGluAlaTrpHisAsnIleMetLeuSerCysLeuSerGlyLysProCysAspLysAsnSerGlyIleLeuThrArgGluCysGlyAsnGluPheAlaTyrPheTyrPheValSerPheIlePheLeuCysSerPheLeuMetLeuAsnLeuPheValAlaValIleMetAspAsnPheGluTyrLeuThrArgAspSerSerIleLeuGlyProHisHisLeuAspGluTyrValArgValTrpAlaGluTyrAspProAlaAlaTrpGlyArgMetProTyrLeuAspMetTyrGlnMetLeuArgHisMetSerProProLeuGlyLeuGlyLysLysCysProAlaArgValAlaTyrLysArgLeuLeuArgMetAspLeuProValAlaAspAspAsnThrValHisPheAsnSerThrLeuMetAlaLeuIleArgThrAlaLeuAspIleLysIleAlaLysGlyGlyAlaAspLysGlnGlnMetAspAlaGluLeuArgLysGluMetMetAlaIleTrpProAsnLeuSerGlnLysThrLeuAspLeuLeuValThrProHisLysSerThrAspLeuThrValGlyLysIleTyrAlaAlaMetMetIleMetGluTyrTyrArgGlnSerLysAlaLysLysLeuGlnAlaMetArgGluGluGlnAspArgThrProLeuMetPheGlnArgMetGluProProSerProThrGlnGluGlyGlyProGlyGlnAsnAlaLeuProSerThrGlnLeuAspProGlyGlyAlaLeuMetAlaHisGluSerGlyLeuLysGluSerProSerTrpValThrGlnArgAlaGlnGluMetPheGlnLysThrGlyThrTrpSerProGluGlnGlyProProThrAspMetProAsnSerGlnProAsnSerGlnSerValGluMetArgGluMetGlyArgAspGlyTyrSerAspSerGluHisTyrLeuProMetGluGlyGlnGlyArgAlaAlaSerMetProArgLeuProAlaGluAsnGlnArgArgArgGlyArgProArgGlyAsnAsnLeuSerThrIleSerAspThrSerProMetLysArgSerAlaSerValLeuGlyProLysAlaArgArgLeuAspAspTyrSerLeuGluArgValProProGluGluAsnGlnArgHisHisGlnArgArgArgAspArgSerHisArgAlaSerGluArgSerLeuGlyArgTyrThrAspValAspThrGlyLeuGlyThrAspLeuSerMetThrThrGlnSerGlyAspLeuProSerLysGluArgAspGlnGluArgGlyArgProLysAspArgLysHisArgGlnHisHisHisHisHisHisHisHisHisHisProProProProAspLysAspArgTyrAlaGlnGluArgProAspHisGlyArgAlaArgAlaArgAspGlnArgTrpSerArgSerProSerGluGlyArgGluHisMetAlaHisArgGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006132" }, { "@id": "http://reg.genome.network/allele/PA645449495", "coordinates": [ { "allele": "A", "end": 4621, "referenceAllele": "G", "start": 4620 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "NM_001127221.1:c.4385G>A", "LRG_7t1:c.4385G>A" ], "proteinEffect": { "hgvs": "NP_001120693.1:p.Trp1462Ter", "hgvsWellDefined": "NP_001120693.1:p.Trp1462_Gln2261delinsProGlnValLeuLysHisSerValAspAlaThrPheGluAsnGlnGlyProSerProGlyTyrArgMetGluMetSerIlePheTyrValValTyrPheValValPheProPhePhePheValAsnIlePheValAlaLeuIleIleIleThrPheGlnGluGlnGlyAspLysMetMetGluGluTyrSerLeuGluLysAsnGluArgAlaCysIleAspPheAlaIleSerAlaLysProLeuThrArgHisMetProGlnAsnLysGlnSerPheGlnTyrArgMetTrpGlnPheValValSerProProPheGluTyrThrIleMetAlaMetIleAlaLeuAsnThrIleValLeuMetMetLysPheTyrGlyAlaSerValAlaTyrGluAsnAlaLeuArgValPheAsnIleValPheThrSerLeuPheSerLeuGluCysValLeuLysValMetAlaPheGlyIleLeuAsnTyrPheArgAspAlaTrpAsnIlePheAspPheValThrValLeuGlySerIleThrAspIleLeuValThrGluPheGlyAsnAsnPheIleAsnLeuSerPheLeuArgLeuPheArgAlaAlaArgLeuIleLysLeuLeuArgGlnGlyTyrThrIleArgIleLeuLeuTrpThrPheValGlnSerPheLysAlaLeuProTyrValCysLeuLeuIleAlaMetLeuPhePheIleTyrAlaIleIleGlyMetGlnValPheGlyAsnIleGlyIleAspValGluAspGluAspSerAspGluAspGluPheGlnIleThrGluHisAsnAsnPheArgThrPhePheGlnAlaLeuMetLeuLeuPheArgSerAlaThrGlyGluAlaTrpHisAsnIleMetLeuSerCysLeuSerGlyLysProCysAspLysAsnSerGlyIleLeuThrArgGluCysGlyAsnGluPheAlaTyrPheTyrPheValSerPheIlePheLeuCysSerPheLeuMetLeuAsnLeuPheValAlaValIleMetAspAsnPheGluTyrLeuThrArgAspSerSerIleLeuGlyProHisHisLeuAspGluTyrValArgValTrpAlaGluTyrAspProAlaAlaCysGlyArgIleHisTyrLysAspMetTyrSerLeuLeuArgValIleSerProProLeuGlyLeuGlyLysLysCysProHisArgValAlaCysLysArgLeuLeuArgMetAspLeuProValAlaAspAspAsnThrValHisPheAsnSerThrLeuMetAlaLeuIleArgThrAlaLeuAspIleLysIleAlaLysGlyGlyAlaAspLysGlnGlnMetAspAlaGluLeuArgLysGluMetMetAlaIleTrpProAsnLeuSerGlnLysThrLeuAspLeuLeuValThrProHisLysSerThrAspLeuThrValGlyLysIleTyrAlaAlaMetMetIleMetGluTyrTyrArgGlnSerLysAlaLysLysLeuGlnAlaMetArgGluGluGlnAspArgThrProLeuMetPheGlnArgMetGluProProSerProThrGlnGluGlyGlyProGlyGlnAsnAlaLeuProSerThrGlnLeuAspProGlyGlyAlaLeuMetAlaHisGluSerGlyLeuLysGluSerProSerTrpValThrGlnArgAlaGlnGluMetPheGlnLysThrGlyThrTrpSerProGluGlnGlyProProThrAspMetProAsnSerGlnProAsnSerGlnSerValGluMetArgGluMetGlyArgAspGlyTyrSerAspSerGluHisTyrLeuProMetGluGlyGlnGlyArgAlaAlaSerMetProArgLeuProAlaGluAsnGlnArgArgArgGlyArgProArgGlyAsnAsnLeuSerThrIleSerAspThrSerProMetLysArgSerAlaSerValLeuGlyProLysAlaArgArgLeuAspAspTyrSerLeuGluArgValProProGluGluAsnGlnArgHisHisGlnArgArgArgAspArgSerHisArgAlaSerGluArgSerLeuGlyArgTyrThrAspValAspThrGlyLeuGlyThrAspLeuSerMetThrThrGlnSerGlyAspLeuProSerLysGluArgAspGlnGluArgGlyArgProLysAspArgLysHisArgGlnHisHisHisHisHisHisHisHisHisHisProProProProAspLysAspArgTyrAlaGlnGluArgProAspHisGlyArgAlaArgAlaArgAspGlnArgTrpSerArgSerProSerGluGlyArgGluHisMetAlaHisArgGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011554" }, { "coordinates": [ { "allele": "A", "end": 4618, "referenceAllele": "G", "start": 4617 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "NM_001127222.1:c.4382G>A" ], "proteinEffect": { "hgvs": "NP_001120694.1:p.Trp1461Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS011555" }, { "@id": "http://reg.genome.network/allele/PA2826105595", "coordinates": [ { "allele": "A", "end": 4621, "referenceAllele": "G", "start": 4620 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "NM_001174080.1:c.4385G>A" ], "proteinEffect": { "hgvs": "NP_001167551.1:p.Trp1462Ter", "hgvsWellDefined": "NP_001167551.1:p.Trp1462_Gln2263delinsProGlnValLeuLysHisSerValAspAlaThrPheGluAsnGlnGlyProSerProGlyTyrArgMetGluMetSerIlePheTyrValValTyrPheValValPheProPhePhePheValAsnIlePheValAlaLeuIleIleIleThrPheGlnGluGlnGlyAspLysMetMetGluGluTyrSerLeuGluLysAsnGluArgAlaCysIleAspPheAlaIleSerAlaLysProLeuThrArgHisMetProGlnAsnLysGlnSerPheGlnTyrArgMetTrpGlnPheValValSerProProPheGluTyrThrIleMetAlaMetIleAlaLeuAsnThrIleValLeuMetMetLysPheTyrGlyAlaSerValAlaTyrGluAsnAlaLeuArgValPheAsnIleValPheThrSerLeuPheSerLeuGluCysValLeuLysValMetAlaPheGlyIleLeuAsnTyrPheArgAspAlaTrpAsnIlePheAspPheValThrValLeuGlySerIleThrAspIleLeuValThrGluPheGlyAsnProAsnAsnPheIleAsnLeuSerPheLeuArgLeuPheArgAlaAlaArgLeuIleLysLeuLeuArgGlnGlyTyrThrIleArgIleLeuLeuTrpThrPheValGlnSerPheLysAlaLeuProTyrValCysLeuLeuIleAlaMetLeuPhePheIleTyrAlaIleIleGlyMetGlnValPheGlyAsnIleGlyIleAspValGluAspGluAspSerAspGluAspGluPheGlnIleThrGluHisAsnAsnPheArgThrPhePheGlnAlaLeuMetLeuLeuPheArgSerAlaThrGlyGluAlaTrpHisAsnIleMetLeuSerCysLeuSerGlyLysProCysAspLysAsnSerGlyIleLeuThrArgGluCysGlyAsnGluPheAlaTyrPheTyrPheValSerPheIlePheLeuCysSerPheLeuMetLeuAsnLeuPheValAlaValIleMetAspAsnPheGluTyrLeuThrArgAspSerSerIleLeuGlyProHisHisLeuAspGluTyrValArgValTrpAlaGluTyrAspProAlaAlaTrpGlyArgMetProTyrLeuAspMetTyrGlnMetLeuArgHisMetSerProProLeuGlyLeuGlyLysLysCysProAlaArgValAlaTyrLysArgLeuLeuArgMetAspLeuProValAlaAspAspAsnThrValHisPheAsnSerThrLeuMetAlaLeuIleArgThrAlaLeuAspIleLysIleAlaLysGlyGlyAlaAspLysGlnGlnMetAspAlaGluLeuArgLysGluMetMetAlaIleTrpProAsnLeuSerGlnLysThrLeuAspLeuLeuValThrProHisLysSerThrAspLeuThrValGlyLysIleTyrAlaAlaMetMetIleMetGluTyrTyrArgGlnSerLysAlaLysLysLeuGlnAlaMetArgGluGluGlnAspArgThrProLeuMetPheGlnArgMetGluProProSerProThrGlnGluGlyGlyProGlyGlnAsnAlaLeuProSerThrGlnLeuAspProGlyGlyAlaLeuMetAlaHisGluSerGlyLeuLysGluSerProSerTrpValThrGlnArgAlaGlnGluMetPheGlnLysThrGlyThrTrpSerProGluGlnGlyProProThrAspMetProAsnSerGlnProAsnSerGlnSerValGluMetArgGluMetGlyArgAspGlyTyrSerAspSerGluHisTyrLeuProMetGluGlyGlnGlyArgAlaAlaSerMetProArgLeuProAlaGluAsnGlnArgArgArgGlyArgProArgGlyAsnAsnLeuSerThrIleSerAspThrSerProMetLysArgSerAlaSerValLeuGlyProLysAlaArgArgLeuAspAspTyrSerLeuGluArgValProProGluGluAsnGlnArgHisHisGlnArgArgArgAspArgSerHisArgAlaSerGluArgSerLeuGlyArgTyrThrAspValAspThrGlyLeuGlyThrAspLeuSerMetThrThrGlnSerGlyAspLeuProSerLysGluArgAspGlnGluArgGlyArgProLysAspArgLysHisArgGlnHisHisHisHisHisHisHisHisHisHisProProProProAspLysAspArgTyrAlaGlnGluArgProAspHisGlyArgAlaArgAlaArgAspGlnArgTrpSerArgSerProSerGluGlyArgGluHisMetAlaHisArgGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS015653" }, { "coordinates": [ { "allele": "A", "end": 4630, "referenceAllele": "G", "start": 4629 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "NM_023035.2:c.4394G>A" ], "proteinEffect": { "hgvs": "NP_075461.2:p.Trp1465Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS037547" }, { "@id": "http://reg.genome.network/allele/PA2825012711", "coordinates": [ { "allele": "A", "end": 4649, "referenceAllele": "G", "start": 4648 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "NM_000068.4:c.4394G>A" ], "proteinEffect": { "hgvs": "NP_000059.3:p.Trp1465Ter", "hgvsWellDefined": "NP_000059.3:p.Trp1465_Gln2266delinsProGlnValLeuLysHisSerValAspAlaThrPheGluAsnGlnGlyProSerProGlyTyrArgMetGluMetSerIlePheTyrValValTyrPheValValPheProPhePhePheValAsnIlePheValAlaLeuIleIleIleThrPheGlnGluGlnGlyAspLysMetMetGluGluTyrSerLeuGluLysAsnGluArgAlaCysIleAspPheAlaIleSerAlaLysProLeuThrArgHisMetProGlnAsnLysGlnSerPheGlnTyrArgMetTrpGlnPheValValSerProProPheGluTyrThrIleMetAlaMetIleAlaLeuAsnThrIleValLeuMetMetLysPheTyrGlyAlaSerValAlaTyrGluAsnAlaLeuArgValPheAsnIleValPheThrSerLeuPheSerLeuGluCysValLeuLysValMetAlaPheGlyIleLeuAsnTyrPheArgAspAlaTrpAsnIlePheAspPheValThrValLeuGlySerIleThrAspIleLeuValThrGluPheGlyAsnProAsnAsnPheIleAsnLeuSerPheLeuArgLeuPheArgAlaAlaArgLeuIleLysLeuLeuArgGlnGlyTyrThrIleArgIleLeuLeuTrpThrPheValGlnSerPheLysAlaLeuProTyrValCysLeuLeuIleAlaMetLeuPhePheIleTyrAlaIleIleGlyMetGlnValPheGlyAsnIleGlyIleAspValGluAspGluAspSerAspGluAspGluPheGlnIleThrGluHisAsnAsnPheArgThrPhePheGlnAlaLeuMetLeuLeuPheArgSerAlaThrGlyGluAlaTrpHisAsnIleMetLeuSerCysLeuSerGlyLysProCysAspLysAsnSerGlyIleLeuThrArgGluCysGlyAsnGluPheAlaTyrPheTyrPheValSerPheIlePheLeuCysSerPheLeuMetLeuAsnLeuPheValAlaValIleMetAspAsnPheGluTyrLeuThrArgAspSerSerIleLeuGlyProHisHisLeuAspGluTyrValArgValTrpAlaGluTyrAspProAlaAlaTrpGlyArgMetProTyrLeuAspMetTyrGlnMetLeuArgHisMetSerProProLeuGlyLeuGlyLysLysCysProAlaArgValAlaTyrLysArgLeuLeuArgMetAspLeuProValAlaAspAspAsnThrValHisPheAsnSerThrLeuMetAlaLeuIleArgThrAlaLeuAspIleLysIleAlaLysGlyGlyAlaAspLysGlnGlnMetAspAlaGluLeuArgLysGluMetMetAlaIleTrpProAsnLeuSerGlnLysThrLeuAspLeuLeuValThrProHisLysSerThrAspLeuThrValGlyLysIleTyrAlaAlaMetMetIleMetGluTyrTyrArgGlnSerLysAlaLysLysLeuGlnAlaMetArgGluGluGlnAspArgThrProLeuMetPheGlnArgMetGluProProSerProThrGlnGluGlyGlyProGlyGlnAsnAlaLeuProSerThrGlnLeuAspProGlyGlyAlaLeuMetAlaHisGluSerGlyLeuLysGluSerProSerTrpValThrGlnArgAlaGlnGluMetPheGlnLysThrGlyThrTrpSerProGluGlnGlyProProThrAspMetProAsnSerGlnProAsnSerGlnSerValGluMetArgGluMetGlyArgAspGlyTyrSerAspSerGluHisTyrLeuProMetGluGlyGlnGlyArgAlaAlaSerMetProArgLeuProAlaGluAsnGlnArgArgArgGlyArgProArgGlyAsnAsnLeuSerThrIleSerAspThrSerProMetLysArgSerAlaSerValLeuGlyProLysAlaArgArgLeuAspAspTyrSerLeuGluArgValProProGluGluAsnGlnArgHisHisGlnArgArgArgAspArgSerHisArgAlaSerGluArgSerLeuGlyArgTyrThrAspValAspThrGlyLeuGlyThrAspLeuSerMetThrThrGlnSerGlyAspLeuProSerLysGluArgAspGlnGluArgGlyArgProLysAspArgLysHisArgGlnHisHisHisHisHisHisHisHisHisHisProProProProAspLysAspArgTyrAlaGlnGluArgProAspHisGlyArgAlaArgAlaArgAspGlnArgTrpSerArgSerProSerGluGlyArgGluHisMetAlaHisArgGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674685" }, { "coordinates": [ { "allele": "A", "end": 4637, "referenceAllele": "G", "start": 4636 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "NM_001127222.2:c.4382G>A" ], "proteinEffect": { "hgvs": "NP_001120694.1:p.Trp1461Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS676856", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000360228.11:c.4382G>A" }, "RefSeq": { "hgvs": "NM_001127222.2:c.4382G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000353362.5:p.Trp1461Ter" }, "RefSeq": { "hgvs": "NP_001120694.1:p.Trp1461Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826105595", "coordinates": [ { "allele": "A", "end": 4640, "referenceAllele": "G", "start": 4639 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "NM_001174080.2:c.4385G>A" ], "proteinEffect": { "hgvs": "NP_001167551.1:p.Trp1462Ter", "hgvsWellDefined": "NP_001167551.1:p.Trp1462_Gln2263delinsProGlnValLeuLysHisSerValAspAlaThrPheGluAsnGlnGlyProSerProGlyTyrArgMetGluMetSerIlePheTyrValValTyrPheValValPheProPhePhePheValAsnIlePheValAlaLeuIleIleIleThrPheGlnGluGlnGlyAspLysMetMetGluGluTyrSerLeuGluLysAsnGluArgAlaCysIleAspPheAlaIleSerAlaLysProLeuThrArgHisMetProGlnAsnLysGlnSerPheGlnTyrArgMetTrpGlnPheValValSerProProPheGluTyrThrIleMetAlaMetIleAlaLeuAsnThrIleValLeuMetMetLysPheTyrGlyAlaSerValAlaTyrGluAsnAlaLeuArgValPheAsnIleValPheThrSerLeuPheSerLeuGluCysValLeuLysValMetAlaPheGlyIleLeuAsnTyrPheArgAspAlaTrpAsnIlePheAspPheValThrValLeuGlySerIleThrAspIleLeuValThrGluPheGlyAsnProAsnAsnPheIleAsnLeuSerPheLeuArgLeuPheArgAlaAlaArgLeuIleLysLeuLeuArgGlnGlyTyrThrIleArgIleLeuLeuTrpThrPheValGlnSerPheLysAlaLeuProTyrValCysLeuLeuIleAlaMetLeuPhePheIleTyrAlaIleIleGlyMetGlnValPheGlyAsnIleGlyIleAspValGluAspGluAspSerAspGluAspGluPheGlnIleThrGluHisAsnAsnPheArgThrPhePheGlnAlaLeuMetLeuLeuPheArgSerAlaThrGlyGluAlaTrpHisAsnIleMetLeuSerCysLeuSerGlyLysProCysAspLysAsnSerGlyIleLeuThrArgGluCysGlyAsnGluPheAlaTyrPheTyrPheValSerPheIlePheLeuCysSerPheLeuMetLeuAsnLeuPheValAlaValIleMetAspAsnPheGluTyrLeuThrArgAspSerSerIleLeuGlyProHisHisLeuAspGluTyrValArgValTrpAlaGluTyrAspProAlaAlaTrpGlyArgMetProTyrLeuAspMetTyrGlnMetLeuArgHisMetSerProProLeuGlyLeuGlyLysLysCysProAlaArgValAlaTyrLysArgLeuLeuArgMetAspLeuProValAlaAspAspAsnThrValHisPheAsnSerThrLeuMetAlaLeuIleArgThrAlaLeuAspIleLysIleAlaLysGlyGlyAlaAspLysGlnGlnMetAspAlaGluLeuArgLysGluMetMetAlaIleTrpProAsnLeuSerGlnLysThrLeuAspLeuLeuValThrProHisLysSerThrAspLeuThrValGlyLysIleTyrAlaAlaMetMetIleMetGluTyrTyrArgGlnSerLysAlaLysLysLeuGlnAlaMetArgGluGluGlnAspArgThrProLeuMetPheGlnArgMetGluProProSerProThrGlnGluGlyGlyProGlyGlnAsnAlaLeuProSerThrGlnLeuAspProGlyGlyAlaLeuMetAlaHisGluSerGlyLeuLysGluSerProSerTrpValThrGlnArgAlaGlnGluMetPheGlnLysThrGlyThrTrpSerProGluGlnGlyProProThrAspMetProAsnSerGlnProAsnSerGlnSerValGluMetArgGluMetGlyArgAspGlyTyrSerAspSerGluHisTyrLeuProMetGluGlyGlnGlyArgAlaAlaSerMetProArgLeuProAlaGluAsnGlnArgArgArgGlyArgProArgGlyAsnAsnLeuSerThrIleSerAspThrSerProMetLysArgSerAlaSerValLeuGlyProLysAlaArgArgLeuAspAspTyrSerLeuGluArgValProProGluGluAsnGlnArgHisHisGlnArgArgArgAspArgSerHisArgAlaSerGluArgSerLeuGlyArgTyrThrAspValAspThrGlyLeuGlyThrAspLeuSerMetThrThrGlnSerGlyAspLeuProSerLysGluArgAspGlnGluArgGlyArgProLysAspArgLysHisArgGlnHisHisHisHisHisHisHisHisHisHisProProProProAspLysAspArgTyrAlaGlnGluArgProAspHisGlyArgAlaArgAlaArgAspGlnArgTrpSerArgSerProSerGluGlyArgGluHisMetAlaHisArgGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678846" }, { "coordinates": [ { "allele": "A", "end": 4649, "referenceAllele": "G", "start": 4648 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "NM_023035.3:c.4394G>A" ], "proteinEffect": { "hgvs": "NP_075461.2:p.Trp1465Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS698619" }, { "@id": "http://reg.genome.network/allele/PA645449495", "coordinates": [ { "allele": "A", "end": 4640, "referenceAllele": "G", "start": 4639 } ], "gene": "http://reg.genome.network/gene/GN001388", "geneNCBI_id": 773, "geneSymbol": "CACNA1A", "hgvs": [ "NM_001127221.2:c.4385G>A" ], "proteinEffect": { "hgvs": "NP_001120693.1:p.Trp1462Ter", "hgvsWellDefined": "NP_001120693.1:p.Trp1462_Gln2261delinsProGlnValLeuLysHisSerValAspAlaThrPheGluAsnGlnGlyProSerProGlyTyrArgMetGluMetSerIlePheTyrValValTyrPheValValPheProPhePhePheValAsnIlePheValAlaLeuIleIleIleThrPheGlnGluGlnGlyAspLysMetMetGluGluTyrSerLeuGluLysAsnGluArgAlaCysIleAspPheAlaIleSerAlaLysProLeuThrArgHisMetProGlnAsnLysGlnSerPheGlnTyrArgMetTrpGlnPheValValSerProProPheGluTyrThrIleMetAlaMetIleAlaLeuAsnThrIleValLeuMetMetLysPheTyrGlyAlaSerValAlaTyrGluAsnAlaLeuArgValPheAsnIleValPheThrSerLeuPheSerLeuGluCysValLeuLysValMetAlaPheGlyIleLeuAsnTyrPheArgAspAlaTrpAsnIlePheAspPheValThrValLeuGlySerIleThrAspIleLeuValThrGluPheGlyAsnAsnPheIleAsnLeuSerPheLeuArgLeuPheArgAlaAlaArgLeuIleLysLeuLeuArgGlnGlyTyrThrIleArgIleLeuLeuTrpThrPheValGlnSerPheLysAlaLeuProTyrValCysLeuLeuIleAlaMetLeuPhePheIleTyrAlaIleIleGlyMetGlnValPheGlyAsnIleGlyIleAspValGluAspGluAspSerAspGluAspGluPheGlnIleThrGluHisAsnAsnPheArgThrPhePheGlnAlaLeuMetLeuLeuPheArgSerAlaThrGlyGluAlaTrpHisAsnIleMetLeuSerCysLeuSerGlyLysProCysAspLysAsnSerGlyIleLeuThrArgGluCysGlyAsnGluPheAlaTyrPheTyrPheValSerPheIlePheLeuCysSerPheLeuMetLeuAsnLeuPheValAlaValIleMetAspAsnPheGluTyrLeuThrArgAspSerSerIleLeuGlyProHisHisLeuAspGluTyrValArgValTrpAlaGluTyrAspProAlaAlaCysGlyArgIleHisTyrLysAspMetTyrSerLeuLeuArgValIleSerProProLeuGlyLeuGlyLysLysCysProHisArgValAlaCysLysArgLeuLeuArgMetAspLeuProValAlaAspAspAsnThrValHisPheAsnSerThrLeuMetAlaLeuIleArgThrAlaLeuAspIleLysIleAlaLysGlyGlyAlaAspLysGlnGlnMetAspAlaGluLeuArgLysGluMetMetAlaIleTrpProAsnLeuSerGlnLysThrLeuAspLeuLeuValThrProHisLysSerThrAspLeuThrValGlyLysIleTyrAlaAlaMetMetIleMetGluTyrTyrArgGlnSerLysAlaLysLysLeuGlnAlaMetArgGluGluGlnAspArgThrProLeuMetPheGlnArgMetGluProProSerProThrGlnGluGlyGlyProGlyGlnAsnAlaLeuProSerThrGlnLeuAspProGlyGlyAlaLeuMetAlaHisGluSerGlyLeuLysGluSerProSerTrpValThrGlnArgAlaGlnGluMetPheGlnLysThrGlyThrTrpSerProGluGlnGlyProProThrAspMetProAsnSerGlnProAsnSerGlnSerValGluMetArgGluMetGlyArgAspGlyTyrSerAspSerGluHisTyrLeuProMetGluGlyGlnGlyArgAlaAlaSerMetProArgLeuProAlaGluAsnGlnArgArgArgGlyArgProArgGlyAsnAsnLeuSerThrIleSerAspThrSerProMetLysArgSerAlaSerValLeuGlyProLysAlaArgArgLeuAspAspTyrSerLeuGluArgValProProGluGluAsnGlnArgHisHisGlnArgArgArgAspArgSerHisArgAlaSerGluArgSerLeuGlyArgTyrThrAspValAspThrGlyLeuGlyThrAspLeuSerMetThrThrGlnSerGlyAspLeuProSerLysGluArgAspGlnGluArgGlyArgProLysAspArgLysHisArgGlnHisHisHisHisHisHisHisHisHisHisProProProProAspLysAspArgTyrAlaGlnGluArgProAspHisGlyArgAlaArgAlaArgAspGlnArgTrpSerArgSerProSerGluGlyArgGluHisMetAlaHisArgGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS712197" } ], "type": "nucleotide" }