{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA374392194", "communityStandardTitle": [ "NM_003640.5(ELP1):c.307G>T (p.Glu103Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1061512[alleleid]", "alleleId": 1061512, "preferredName": "NM_003640.5(ELP1):c.307G>T (p.Glu103Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1074533", "RCV": [ "RCV001387861" ], "variationId": 1074533 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.111689730C>A?assembly=hg19", "id": "chr9:g.111689730C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.108927450C>A?assembly=hg38", "id": "chr9:g.108927450C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2132045613", "rs": 2132045613 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-108927450-C-A?dataset=gnomad_r4", "id": "9-108927450-C-A", "variant": "9:108927450 C / A" } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "A", "end": 108927450, "referenceAllele": "C", "start": 108927449 } ], "hgvs": [ "NC_000009.12:g.108927450C>A", "CM000671.2:g.108927450C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "A", "end": 111689730, "referenceAllele": "C", "start": 111689729 } ], "hgvs": [ "NC_000009.11:g.111689730C>A", "CM000671.1:g.111689730C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "A", "end": 110729551, "referenceAllele": "C", "start": 110729550 } ], "hgvs": [ "NC_000009.10:g.110729551C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "T", "end": 11879, "referenceAllele": "G", "start": 11878 } ], "hgvs": [ "NG_008788.1:g.11879G>T", "LRG_251:g.11879G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001215" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 623, "referenceAllele": "G", "start": 622 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000374647.10:c.307G>T" ], "proteinEffect": { "hgvs": "ENSP00000363779.5:p.Glu103Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS751468", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000374647.10:c.307G>T" }, "RefSeq": { "hgvs": "NM_003640.5:c.307G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000363779.5:p.Glu103Ter" }, "RefSeq": { "hgvs": "NP_003631.2:p.Glu103Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 612, "referenceAllele": "G", "start": 611 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000495759.6:c.307G>T" ], "proteinEffect": { "hgvs": "ENSP00000433514.2:p.Glu103Ter", "hgvsWellDefined": "ENSP00000433514.2:p.Glu103_Gln193delinsCysValGlySerValAlaSerGlyIleSerValMetSerTrpSerProAspGlnGluLeuValLeuLeuAlaThrGlyGlnGlnThrLeuIleMetMetThrLysAspPheGluProIleLeuGluGlnGlnIleHisGlnAspAspPheGlyGluSerLysPheIleThrValGlyTrpGlyArgLysGluThrGlnPheHisGlySerGluGlyArgGlnAlaAlaPheGlnMetGlnMetValIleValGlnValLeuThrLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS757811" }, { "coordinates": [ { "allele": "T", "end": 612, "referenceAllele": "G", "start": 611 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000674535.1:c.307G>T" ], "proteinEffect": { "hgvs": "ENSP00000502142.1:p.Glu103Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS774487" }, { "coordinates": [ { "allele": "T", "end": 623, "referenceAllele": "G", "start": 622 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000674704.1:n.623G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS774631" }, { "coordinates": [ { "allele": "T", "end": 612, "referenceAllele": "G", "start": 611 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000674836.1:n.612G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS774738" }, { "coordinates": [ { "allele": "T", "end": 612, "referenceAllele": "G", "start": 611 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000674890.1:c.307G>T" ], "proteinEffect": { "hgvs": "ENSP00000501870.1:p.Glu103Ter", "hgvsWellDefined": "ENSP00000501870.1:p.Glu103_Ser928delinsCysValGlySerValAlaSerGlyIleSerValMetSerTrpSerProAspGlnGluLeuValLeuLeuAlaThrGlyGlnGlnThrLeuIleMetMetThrLysAspPheGluProIleLeuGluGlnGlnIleHisGlnAspAspPheGlyGluSerLysPheIleThrValGlyTrpGlyArgLysGluThrGlnPheHisGlySerGluGlyArgGlnAlaAlaPheGlnMetGlnMetHisGluSerAlaLeuProTrpAspAspHisArgProGlnValThrTrpArgGlyAspGlyGlnPhePheAlaValSerValValCysProGluThrGlyAlaArgLysValArgValTrpAsnArgGluPheAlaLeuGlnSerThrSerGluProValAlaGlyLeuGlyProAlaLeuAlaTrpLysProSerGlySerLeuIleAlaSerThrGlnAspLysProAsnGlnGlnAspIleValPhePheGluLysAsnGlyLeuLeuHisGlyHisPheThrLeuProPheLeuLysAspGluValLysValAsnAspLeuLeuTrpAsnAlaAspSerSerValLeuAlaValTrpLeuGluAspLeuGlnArgGluGluSerSerIleProLysThrCysValGlnLeuTrpThrValGlyAsnTyrHisTrpTyrLeuLysGlnSerLeuSerPheSerThrCysGlyLysSerLysIleValSerLeuMetTrpAspProValThrProTyrArgLeuHisValLeuCysGlnGlyTrpHisTyrLeuAlaTyrAspTrpHisTrpThrThrAspArgSerValGlyAspAsnSerSerAspLeuSerAsnValAlaValIleAspGlyAsnArgValLeuValThrValPheArgGlnThrValValProProProMetCysThrTyrGlnLeuLeuPheProHisProValAsnGlnValThrPheLeuAlaHisProGlnLysSerAsnAspLeuAlaValLeuAspAlaSerAsnGlnIleSerValTyrLysCysGlyAspCysProSerAlaAspProThrValLysLeuGlyAlaValGlyGlySerGlyPheLysValCysLeuArgThrProHisLeuGluLysArgTyrLysIleGlnPheGluAsnAsnGluAspGlnAspValAsnProLeuLysLeuGlyLeuLeuThrTrpIleGluGluAspValPheLeuAlaValSerHisSerGluPheSerProArgSerValIleHisHisLeuThrAlaAlaSerSerGluMetAspGluGluHisGlyGlnLeuAsnValSerSerSerAlaAlaValAspGlyValIleIleSerLeuCysCysAsnSerLysThrLysSerValValLeuGlnLeuAlaAspGlyGlnIlePheLysTyrLeuTrpGluSerProSerLeuAlaIleLysProTrpLysAsnSerGlyGlyPheProValArgPheProTyrProCysThrGlnThrGluLeuAlaMetIleGlyGluGluGluCysValLeuGlyLeuThrAspArgCysArgPhePheIleAsnAspIleGluValAlaSerAsnIleThrSerPheAlaValTyrAspGluPheLeuLeuLeuThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysPheSerLeuIleIlePheLeuGlySerGlnArgIleSerSerIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774783" }, { "coordinates": [ { "allele": "T", "end": 416, "referenceAllele": "G", "start": 415 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000674938.1:c.-36G>T" ], "proteinEffect": { "hgvs": "ENSP00000502427.1:n.-36G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS774824" }, { "coordinates": [ { "allele": "T", "end": 682, "referenceAllele": "G", "start": 681 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000674948.1:c.-36G>T" ], "proteinEffect": { "hgvs": "ENSP00000501602.1:n.-36G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS774832" }, { "coordinates": [ { "allele": "T", "end": 612, "referenceAllele": "G", "start": 611 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675052.1:c.307G>T" ], "proteinEffect": { "hgvs": "ENSP00000502664.1:p.Glu103Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS774927" }, { "coordinates": [ { "allele": "T", "end": 612, "referenceAllele": "G", "start": 611 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675078.1:c.307G>T" ], "proteinEffect": { "hgvs": "ENSP00000501549.1:p.Glu103Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS774947" }, { "coordinates": [ { "allele": "T", "end": 614, "referenceAllele": "G", "start": 613 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675215.1:c.307G>T" ], "proteinEffect": { "hgvs": "ENSP00000502558.1:p.Glu103Ter", "hgvsWellDefined": "ENSP00000502558.1:p.Glu103_Arg195delinsCysValGlySerValAlaSerGlyIleSerValMetSerTrpSerProAspGlnGluLeuValLeuLeuAlaThrGlyGlnGlnThrLeuIleMetMetThrLysAspPheGluProIleLeuGluGlnGlnIleHisGlnAspAspPheGlyGluSerLysPheIleThrValGlyTrpGlyArgLysGluThrGlnPheHisGlySerGluGlyArgGlnAlaAlaPheGlnMetGlnMetThrLeuArgGlnPheAspCysIleTyrThrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775066" }, { "coordinates": [ { "allele": "T", "end": 612, "referenceAllele": "G", "start": 611 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675233.1:n.612G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775081" }, { "coordinates": [ { "allele": "T", "end": 307, "referenceAllele": "G", "start": 306 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675321.1:c.307G>T" ], "proteinEffect": { "hgvs": "ENSP00000502751.1:p.Glu103Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS775156" }, { "coordinates": [ { "allele": "T", "end": 612, "referenceAllele": "G", "start": 611 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675325.1:n.612G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775159" }, { "coordinates": [ { "allele": "T", "end": 307, "referenceAllele": "G", "start": 306 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675335.1:c.307G>T" ], "proteinEffect": { "hgvs": "ENSP00000502182.1:p.Glu103Ter", "hgvsWellDefined": "ENSP00000502182.1:p.Glu103_Glu446delinsCysValGlySerValAlaSerGlyIleSerValMetSerTrpSerProAspGlnGluLeuValLeuLeuAlaThrGlyGlnGlnThrLeuIleMetMetThrLysAspPheGluProIleLeuGluGlnGlnIleHisGlnAspAspPheGlyGluSerLysPheIleThrValGlyTrpGlyArgLysGluThrGlnPheHisGlySerGluGlyArgGlnAlaAlaPheGlnMetGlnMetHisGluSerAlaLeuProTrpAspAspHisArgProGlnValThrTrpArgGlyAspGlyGlnPhePheAlaValSerValValCysProGluThrGlyAlaArgLysValArgValTrpAsnArgGluPheAlaLeuGlnSerThrSerGluProValAlaGlyLeuGlyProAlaLeuAlaTrpLysProSerGlySerLeuIleAlaSerThrGlnAspLysProAsnGlnGlnAspIleValPhePheGluLysAsnGlyLeuLeuHisGlyHisPheThrLeuProPheLeuLysAspGluValLysValAsnAspLeuLeuTrpAsnAlaAspSerSerValLeuAlaValTrpLeuGluAspLeuGlnArgGluGluSerSerIleProLysThrCysValGlnLeuTrpThrValGlyAsnTyrHisTrpTyrLeuLysGlnSerLeuSerPheSerThrCysGlyLysSerLysIleValSerLeuMetTrpAspProValThrProTyrArgLeuHisValLeuCysGlnGlyTrpHisTyrLeuAlaTyrAspTrpHisTrpThrThrAspArgSerValGlyAspAsnSerSerAspLeuSerAsnValAlaValIleAspGlySerLeuIleLeuPhePheLeuPheHisCysArgGlnGlyValGlyAspSerLeuProAlaAspCysGlySerAlaSerHisValHisLeuProThrAlaValProThrProCysGluSerSerHisIleLeuSerThrProSerLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775167" }, { "coordinates": [ { "allele": "T", "end": 489, "referenceAllele": "G", "start": 488 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675400.1:n.489G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775225" }, { "coordinates": [ { "allele": "T", "end": 610, "referenceAllele": "G", "start": 609 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675406.1:c.307G>T" ], "proteinEffect": { "hgvs": "ENSP00000501893.1:p.Glu103Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS775231" }, { "coordinates": [ { "allele": "T", "end": 307, "referenceAllele": "G", "start": 306 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675458.1:c.307G>T" ], "proteinEffect": { "hgvs": "ENSP00000501754.1:p.Glu103Ter", "hgvsWellDefined": "ENSP00000501754.1:p.Glu103_Phe186delinsCysValGlySerValAlaSerGlyIleSerValMetSerTrpSerProAspGlnGluLeuValLeuLeuAlaThrGlyGlnGlnThrLeuIleMetMetThrLysAspPheGluProIleLeuGluGlnGlnIleHisGlnAspAspPheGlyGluSerLysPheIleThrValGlyTrpGlyArgLysGluThrGlnPheHisGlySerGluGlyArgGlnAlaAlaPheGlnMetGlnMetAlaPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775277" }, { "coordinates": [ { "allele": "T", "end": 612, "referenceAllele": "G", "start": 611 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675507.1:n.612G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775317" }, { "coordinates": [ { "allele": "T", "end": 612, "referenceAllele": "G", "start": 611 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675535.1:c.307G>T" ], "proteinEffect": { "hgvs": "ENSP00000501667.1:p.Glu103Ter", "hgvsWellDefined": "ENSP00000501667.1:p.Glu103_Ser810delinsCysValGlySerValAlaSerGlyIleSerValMetSerTrpSerProAspGlnGluLeuValLeuLeuAlaThrGlyGlnGlnThrLeuIleMetMetThrLysAspPheGluProIleLeuGluGlnGlnIleHisGlnAspAspPheGlyGluSerLysPheIleThrValGlyTrpGlyArgLysGluThrGlnPheHisGlySerGluGlyArgGlnAlaAlaPheGlnMetGlnMetHisGluSerAlaLeuProTrpAspAspHisArgProGlnValThrTrpArgGlyAspGlyGlnPhePheAlaValSerValValCysProGluThrGlyAlaArgLysValArgValTrpAsnArgGluPheAlaLeuGlnSerThrSerGluProValAlaGlyLeuGlyProAlaLeuAlaTrpLysProSerGlySerLeuIleAlaSerThrGlnAspLysProAsnGlnGlnAspIleValPhePheGluLysAsnGlyLeuLeuHisGlyHisPheThrLeuProPheLeuLysAspGluValLysValAsnAspLeuLeuTrpAsnAlaAspSerSerValLeuAlaValTrpLeuGluAspLeuGlnArgGluGluSerSerIleProLysThrCysValGlnLeuTrpThrValGlyAsnTyrHisTrpTyrLeuLysGlnSerLeuSerPheSerThrCysGlyLysSerLysIleValSerLeuMetTrpAspProValThrProTyrArgLeuHisValLeuCysGlnGlyTrpHisTyrLeuAlaTyrAspTrpHisTrpThrThrAspArgSerValGlyAspAsnSerSerAspLeuSerAsnValAlaValIleAspGlyAsnArgValLeuValThrValPheArgGlnThrValValProProProMetCysThrTyrGlnLeuLeuPheProHisProValAsnGlnValThrPheLeuAlaHisProGlnLysSerAsnAspLeuAlaValLeuAspAlaSerAsnGlnIleSerValTyrLysCysGlyAspCysProSerAlaAspProThrValLysLeuGlyAlaValGlyGlySerGlyPheLysValCysLeuArgThrProHisLeuGluLysArgTyrLysIleGlnPheGluAsnAsnGluAspGlnAspValAsnProLeuLysLeuGlyLeuLeuThrTrpIleGluGluAspValPheLeuAlaValSerHisSerGluPheSerProArgSerValIleHisHisLeuThrAlaAlaSerSerGluMetAspGluGluHisGlyGlnLeuAsnValSerSerSerAlaAlaValAspGlyValIleIleSerLeuCysCysAsnSerLysThrLysSerValValLeuGlnLeuAlaAspGlyGlnIlePheLysTyrLeuTrpGluSerProSerLeuAlaIleLysProTrpLysAsnSerGlyGlyPheProValArgPheProTyrProCysThrGlnThrGluLeuAlaMetIleGlyGluGluGluCysValLeuGlyLeuThrAspArgCysArgPhePheIleAsnAspIleGluValAlaSerAsnIleThrSerPheAlaValTyrAspGluPheLeuLeuLeuThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysArgArgCysHisGluAspHisValProCysThrSerTyrGlnGlnCysLeuProValGlnGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775340" }, { "coordinates": [ { "allele": "T", "end": 612, "referenceAllele": "G", "start": 611 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675566.1:n.612G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775366" }, { "coordinates": [ { "allele": "T", "end": 615, "referenceAllele": "G", "start": 614 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675602.1:n.615G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775397" }, { "coordinates": [ { "allele": "T", "end": 612, "referenceAllele": "G", "start": 611 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675647.1:n.612G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775439" }, { "coordinates": [ { "allele": "T", "end": 307, "referenceAllele": "G", "start": 306 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675711.1:c.307G>T" ], "proteinEffect": { "hgvs": "ENSP00000502485.1:p.Glu103Ter", "hgvsWellDefined": "ENSP00000502485.1:p.Glu103_Lys1091delinsCysValGlySerValAlaSerGlyIleSerValMetSerTrpSerProAspGlnGluLeuValLeuLeuAlaThrGlyGlnGlnThrLeuIleMetMetThrLysAspPheGluProIleLeuGluGlnGlnIleHisGlnAspAspPheGlyGluSerLysPheIleThrValGlyTrpGlyArgLysGluThrGlnPheHisGlySerGluGlyArgGlnAlaAlaPheGlnMetGlnMetHisGluSerAlaLeuProTrpAspAspHisArgProGlnValThrTrpArgGlyAspGlyGlnPhePheAlaValSerValValCysProGluThrGlyAlaArgLysValArgValTrpAsnArgGluPheAlaLeuGlnSerThrSerGluProValAlaGlyLeuGlyProAlaLeuAlaTrpLysProSerGlySerLeuIleAlaSerThrGlnAspLysProAsnGlnGlnAspIleValPhePheGluLysAsnGlyLeuLeuHisGlyHisPheThrLeuProPheLeuLysAspGluValLysValAsnAspLeuLeuTrpAsnAlaAspSerSerValLeuAlaValTrpLeuGluAspLeuGlnArgGluGluSerSerIleProLysThrCysValGlnLeuTrpThrValGlyAsnTyrHisTrpTyrLeuLysGlnSerLeuSerPheSerThrCysGlyLysSerLysIleValSerLeuMetTrpAspProValThrProTyrArgLeuHisValLeuCysGlnGlyTrpHisTyrLeuAlaTyrAspTrpHisTrpThrThrAspArgSerValGlyAspAsnSerSerAspLeuSerAsnValAlaValIleAspGlyAsnArgValLeuValThrValPheArgGlnThrValValProProProMetCysThrTyrGlnLeuLeuPheProHisProValAsnGlnValThrPheLeuAlaHisProGlnLysSerAsnAspLeuAlaValLeuAspAlaSerAsnGlnIleSerValTyrLysCysGlyAspCysProSerAlaAspProThrValLysLeuGlyAlaValGlyGlySerGlyPheLysValCysLeuArgThrProHisLeuGluLysArgTyrLysIleGlnPheGluAsnAsnGluAspGlnAspValAsnProLeuLysLeuGlyLeuLeuThrTrpIleGluGluAspValPheLeuAlaValSerHisSerGluPheSerProArgSerValIleHisHisLeuThrAlaAlaSerSerGluMetAspGluGluHisGlyGlnLeuAsnValSerSerSerAlaAlaValAspGlyValIleIleSerLeuCysCysAsnSerLysThrLysSerValValLeuGlnLeuAlaAspGlyGlnIlePheLysTyrLeuTrpGluSerProSerLeuAlaIleLysProTrpLysAsnSerGlyGlyPheProValArgPheProTyrProCysThrGlnThrGluLeuAlaMetIleGlyGluGluGluCysValLeuGlyLeuThrAspArgCysArgPhePheIleAsnAspIleGluValAlaSerAsnIleThrSerPheAlaValTyrAspGluPheLeuLeuLeuThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnArgTrpGlyValThrSerCysProArgTrpSerGluThrProGlyLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775494" }, { "coordinates": [ { "allele": "T", "end": 612, "referenceAllele": "G", "start": 611 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675727.1:c.307G>T" ], "proteinEffect": { "hgvs": "ENSP00000501722.1:p.Glu103Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS775506" }, { "coordinates": [ { "allele": "T", "end": 450, "referenceAllele": "G", "start": 449 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675748.1:n.450G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775526" }, { "coordinates": [ { "allele": "T", "end": 621, "referenceAllele": "G", "start": 620 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675765.1:c.307G>T" ], "proteinEffect": { "hgvs": "ENSP00000502640.1:p.Glu103Ter", "hgvsWellDefined": "ENSP00000502640.1:p.Glu103_Leu892delinsCysValGlySerValAlaSerGlyIleSerValMetSerTrpSerProAspGlnGluLeuValLeuLeuAlaThrGlyGlnGlnThrLeuIleMetMetThrLysAspPheGluProIleLeuGluGlnGlnIleHisGlnAspAspPheGlyGluSerLysPheIleThrValGlyTrpGlyArgLysGluThrGlnPheHisGlySerGluGlyArgGlnAlaAlaPheGlnMetGlnMetHisGluSerAlaLeuProTrpAspAspHisArgProGlnValThrTrpArgGlyAspGlyGlnPhePheAlaValSerValValCysProGluThrGlyAlaArgLysValArgValTrpAsnArgGluPheAlaLeuGlnSerThrSerGluProValAlaGlyLeuGlyProAlaLeuAlaTrpLysProSerGlySerLeuIleAlaSerThrGlnAspLysProAsnGlnGlnAspIleValPhePheGluLysAsnGlyLeuLeuHisGlyHisPheThrLeuProPheLeuLysAspGluValLysValAsnAspLeuLeuTrpAsnAlaAspSerSerValLeuAlaValTrpLeuGluAspLeuGlnArgGluGluSerSerIleProLysThrCysValGlnLeuTrpThrValGlyAsnTyrHisTrpTyrLeuLysGlnSerLeuSerPheSerThrCysGlyLysSerLysIleValSerLeuMetTrpAspProValThrProTyrArgLeuHisValLeuCysGlnGlyTrpHisTyrLeuAlaTyrAspTrpHisTrpThrThrAspArgSerValGlyAspAsnSerSerAspLeuSerAsnValAlaValIleAspGlyAsnArgValLeuValThrValPheArgGlnThrValValProProProMetCysThrTyrGlnLeuLeuPheProHisProValAsnGlnValThrPheLeuAlaHisProGlnLysSerAsnAspLeuAlaValLeuAspAlaSerAsnGlnIleSerValTyrLysCysGlyAspCysProSerAlaAspProThrValLysLeuGlyAlaValGlyGlySerGlyPheLysValCysLeuArgThrProHisLeuGluLysArgTyrLysIleGlnPheGluAsnAsnGluAspGlnAspValAsnProLeuLysLeuGlyLeuLeuThrTrpIleGluGluAspValPheLeuAlaValSerHisSerGluPheSerProArgSerValIleHisHisLeuThrAlaAlaSerSerGluMetAspGluGluHisGlyGlnLeuAsnValSerSerSerAlaAlaValAspGlyValIleIleSerLeuCysCysAsnSerLysThrLysSerValValLeuGlnLeuAlaAspGlyGlnIlePheLysTyrLeuTrpGluSerProSerLeuAlaIleLysProTrpLysAsnSerGlyGlyPheProValArgPheProTyrProCysThrGlnThrGluLeuAlaMetIleGlyGluGluGluCysValLeuGlyLeuThrAspArgCysArgPhePheIleAsnAspIleGluValAlaSerAsnIleThrSerPheAlaValTyrAspGluPheLeuLeuLeuThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyArgAspProLeuThrGluLysValLeuLysValAlaValThrAlaThrSerLeuLeuGlnGluMetLeuProLeuIleLeuMetLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775539" }, { "coordinates": [ { "allele": "T", "end": 612, "referenceAllele": "G", "start": 611 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675825.1:c.307G>T" ], "proteinEffect": { "hgvs": "ENSP00000502632.1:p.Glu103Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS775593" }, { "coordinates": [ { "allele": "T", "end": 612, "referenceAllele": "G", "start": 611 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675877.1:n.612G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775641" }, { "coordinates": [ { "allele": "T", "end": 612, "referenceAllele": "G", "start": 611 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675893.1:c.307G>T" ], "proteinEffect": { "hgvs": "ENSP00000502001.1:p.Glu103Ter", "hgvsWellDefined": "ENSP00000502001.1:p.Glu103_Phe137delinsCysValGlySerValAlaSerGlyIleSerValMetSerTrpSerProAspGlnGluLeuValLeuLeuAlaThrAspProAspTyrAspAspLysArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775655" }, { "coordinates": [ { "allele": "T", "end": 643, "referenceAllele": "G", "start": 642 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675938.1:n.643G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775692" }, { "coordinates": [ { "allele": "T", "end": 612, "referenceAllele": "G", "start": 611 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675943.1:n.612G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775696" }, { "coordinates": [ { "allele": "T", "end": 612, "referenceAllele": "G", "start": 611 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675979.1:c.307G>T" ], "proteinEffect": { "hgvs": "ENSP00000502208.1:p.Glu103Ter", "hgvsWellDefined": "ENSP00000502208.1:p.Glu103_Val221delinsCysValGlySerValAlaSerGlyIleSerValMetSerTrpSerProAspGlnGluLeuValLeuLeuAlaThrGlyGlnGlnThrLeuIleMetMetThrLysAspPheGluProIleLeuGluGlnGlnIleHisGlnAspAspPheGlyGluSerLysPheIleThrValGlyTrpGlyArgLysGluThrGlnPheHisGlySerGluGlyArgGlnAlaAlaPheGlnMetGlnMetHisGluSerAlaLeuProTrpAspAspHisArgProGlnValThrTrpArgGlyAspGlyGlnPhePheAlaValSerValValCysProGluThrAspProGlnAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775725" }, { "coordinates": [ { "allele": "T", "end": 612, "referenceAllele": "G", "start": 611 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000676044.1:c.307G>T" ], "proteinEffect": { "hgvs": "ENSP00000502378.1:p.Glu103Ter", "hgvsWellDefined": "ENSP00000502378.1:p.Glu103_Lys812delinsCysValGlySerValAlaSerGlyIleSerValMetSerTrpSerProAspGlnGluLeuValLeuLeuAlaThrGlyGlnGlnThrLeuIleMetMetThrLysAspPheGluProIleLeuGluGlnGlnIleHisGlnAspAspPheGlyGluSerLysPheIleThrValGlyTrpGlyArgLysGluThrGlnPheHisGlySerGluGlyArgGlnAlaAlaPheGlnMetGlnMetHisGluSerAlaLeuProTrpAspAspHisArgProGlnValThrTrpArgGlyAspGlyGlnPhePheAlaValSerValValCysProGluThrGlyAlaArgLysValArgValTrpAsnArgGluPheAlaLeuGlnSerThrSerGluProValAlaGlyLeuGlyProAlaLeuAlaTrpLysProSerGlySerLeuIleAlaSerThrGlnAspLysProAsnGlnGlnAspIleValPhePheGluLysAsnGlyLeuLeuHisGlyHisPheThrLeuProPheLeuLysAspGluValLysValAsnAspLeuLeuTrpAsnAlaAspSerSerValLeuAlaValTrpLeuGluAspLeuGlnArgGluGluSerSerIleProLysThrCysValGlnLeuTrpThrValGlyAsnTyrHisTrpTyrLeuLysGlnSerLeuSerPheSerThrCysGlyLysSerLysIleValSerLeuMetTrpAspProValThrProTyrArgLeuHisValLeuCysGlnGlyTrpHisTyrLeuAlaTyrAspTrpHisTrpThrThrAspArgSerValGlyAspAsnSerSerAspLeuSerAsnValAlaValIleAspGlyAsnArgValLeuValThrValPheArgGlnThrValValProProProMetCysThrTyrGlnLeuLeuPheProHisProValAsnGlnValThrPheLeuAlaHisProGlnLysSerAsnAspLeuAlaValLeuAspAlaSerAsnGlnIleSerValTyrLysCysGlyAspCysProSerAlaAspProThrValLysLeuGlyAlaValGlyGlySerGlyPheLysValCysLeuArgThrProHisLeuGluLysArgTyrLysIleGlnPheGluAsnAsnGluAspGlnAspValAsnProLeuLysLeuGlyLeuLeuThrTrpIleGluGluAspValPheLeuAlaValSerHisSerGluPheSerProArgSerValIleHisHisLeuThrAlaAlaSerSerGluMetAspGluGluHisGlyGlnLeuAsnValSerSerSerAlaAlaValAspGlyValIleIleSerLeuCysCysAsnSerLysThrLysSerValValLeuGlnLeuAlaAspGlyGlnIlePheLysTyrLeuTrpGluSerProSerLeuAlaIleLysProTrpLysAsnSerGlyGlyPheProValArgPheProTyrProCysThrGlnThrGluLeuAlaMetIleGlyGluGluGluCysValLeuGlyLeuThrAspArgCysArgPhePheIleAsnAspIleGluValAlaSerAsnIleThrSerPheAlaValTyrAspGluPheLeuLeuLeuThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysArgLeuLysSerAsnGlyIlePheLeuSerAspAspLeuSerProGlnLeuPheAsnGluThrLeuSerLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775782" }, { "coordinates": [ { "allele": "T", "end": 612, "referenceAllele": "G", "start": 611 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000676086.1:n.612G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775820" }, { "coordinates": [ { "allele": "T", "end": 644, "referenceAllele": "G", "start": 643 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000676121.1:n.644G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775850" }, { "coordinates": [ { "allele": "T", "end": 612, "referenceAllele": "G", "start": 611 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000676237.1:c.307G>T" ], "proteinEffect": { "hgvs": "ENSP00000501828.1:p.Glu103Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS775950" }, { "coordinates": [ { "allele": "T", "end": 297, "referenceAllele": "G", "start": 296 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000676416.1:c.-36G>T" ], "proteinEffect": { "hgvs": "ENSP00000501660.1:n.-36G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS776100" }, { "coordinates": [ { "allele": "T", "end": 612, "referenceAllele": "G", "start": 611 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000676424.1:n.612G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS776106" }, { "coordinates": [ { "allele": "T", "end": 3285, "referenceAllele": "G", "start": 3284 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000676429.1:n.3285G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS776111" }, { "coordinates": [ { "allele": "T", "end": 615, "referenceAllele": "G", "start": 614 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000374647.9:c.307G>T" ], "proteinEffect": { "hgvs": "ENSP00000363779.5:p.Glu103Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS270343" }, { "coordinates": [ { "allele": "T", "end": 90, "endIntronDirection": "+", "endIntronOffset": 6414, "referenceAllele": "G", "start": 90, "startIntronDirection": "+", "startIntronOffset": 6413 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000537196.1:c.-308+6414G>T" ], "proteinEffect": { "hgvs": "ENSP00000439367.1:n.-308+6414G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS360651" }, { "coordinates": [ { "allele": "T", "end": 827, "referenceAllele": "G", "start": 826 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "NM_003640.3:c.307G>T", "LRG_251t1:c.307G>T" ], "proteinEffect": { "hgvs": "NP_003631.2:p.Glu103Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS028869" }, { "coordinates": [ { "allele": "T", "end": 397, "referenceAllele": "G", "start": 396 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "XM_005252285.2:c.-36G>T" ], "proteinEffect": { "hgvs": "XP_005252342.1:n.-36G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS059890" }, { "coordinates": [ { "allele": "T", "end": 623, "referenceAllele": "G", "start": 622 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "XM_011519136.1:c.307G>T" ], "proteinEffect": { "hgvs": "XP_011517438.1:p.Glu103Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS086309" }, { "coordinates": [ { "allele": "T", "end": 397, "referenceAllele": "G", "start": 396 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "XM_011519137.1:c.-36G>T" ], "proteinEffect": { "hgvs": "XP_011517439.1:n.-36G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS086310" }, { "coordinates": [ { "allele": "T", "end": 623, "referenceAllele": "G", "start": 622 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "XR_929859.1:n.623G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS125988" }, { "coordinates": [ { "allele": "T", "end": 686, "referenceAllele": "G", "start": 685 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "NM_001318360.1:c.-36G>T" ], "proteinEffect": { "hgvs": "NP_001305289.1:n.-36G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS512851" }, { "coordinates": [ { "allele": "T", "end": 831, "referenceAllele": "G", "start": 830 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "NM_001330749.1:c.-553G>T" ], "proteinEffect": { "hgvs": "NP_001317678.1:n.-553G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS517073" }, { "coordinates": [ { "allele": "T", "end": 831, "referenceAllele": "G", "start": 830 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "NM_003640.4:c.307G>T" ], "proteinEffect": { "hgvs": "NP_003631.2:p.Glu103Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS525117" }, { "coordinates": [ { "allele": "T", "end": 634, "referenceAllele": "G", "start": 633 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "XM_011519136.2:c.307G>T" ], "proteinEffect": { "hgvs": "XP_011517438.1:p.Glu103Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS545238" }, { "coordinates": [ { "allele": "T", "end": 634, "referenceAllele": "G", "start": 633 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "XR_929859.3:n.634G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS609323" }, { "coordinates": [ { "allele": "T", "end": 623, "referenceAllele": "G", "start": 622 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "NM_003640.5:c.307G>T" ], "proteinEffect": { "hgvs": "NP_003631.2:p.Glu103Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS666111", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000374647.10:c.307G>T" }, "RefSeq": { "hgvs": "NM_003640.5:c.307G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000363779.5:p.Glu103Ter" }, "RefSeq": { "hgvs": "NP_003631.2:p.Glu103Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 478, "referenceAllele": "G", "start": 477 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "NM_001318360.2:c.-36G>T" ], "proteinEffect": { "hgvs": "NP_001305289.1:n.-36G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS684503" }, { "coordinates": [ { "allele": "T", "end": 623, "referenceAllele": "G", "start": 622 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "NM_001330749.2:c.-553G>T" ], "proteinEffect": { "hgvs": "NP_001317678.1:n.-553G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS687100" } ], "type": "nucleotide" }