{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA7789747", "communityStandardTitle": [ "NM_001378030.1(CCDC78):c.109G>A (p.Ala37Thr)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3717090", "active": true, "id": "COSM3717090" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=997128[alleleid]", "alleleId": 997128, "preferredName": "NM_001378030.1(CCDC78):c.109G>A (p.Ala37Thr)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1001979", "RCV": [ "RCV001298343" ], "variationId": 1001979 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/16-776037-C-T", "id": "16-776037-C-T", "variant": "16:776037 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.776037C>T?assembly=hg19", "id": "chr16:g.776037C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.726037C>T?assembly=hg38", "id": "chr16:g.726037C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/144624081", "rs": 144624081 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-776037-C-T?dataset=gnomad_r2_1", "id": "16-776037-C-T", "variant": "16:776037 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-726037-C-T?dataset=gnomad_r3", "id": "16-726037-C-T", "variant": "16:726037 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-726037-C-T?dataset=gnomad_r4", "id": "16-726037-C-T", "variant": "16:726037 C / T" } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 726037, "referenceAllele": "C", "start": 726036 } ], "hgvs": [ "NC_000016.10:g.726037C>T", "CM000678.2:g.726037C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000064" }, { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 776037, "referenceAllele": "C", "start": 776036 } ], "hgvs": [ "NC_000016.9:g.776037C>T", "CM000678.1:g.776037C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000040" }, { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 716038, "referenceAllele": "C", "start": 716037 } ], "hgvs": [ "NC_000016.8:g.716038C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000016" }, { "coordinates": [ { "allele": "A", "end": 5437, "referenceAllele": "G", "start": 5436 } ], "hgvs": [ "NG_032932.1:g.5437G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS005292" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 154, "referenceAllele": "G", "start": 153 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "ENST00000423653.6:n.154G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS824736" }, { "coordinates": [ { "allele": "A", "end": 198, "referenceAllele": "G", "start": 197 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "ENST00000682391.1:n.198G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS827383" }, { "coordinates": [ { "allele": "A", "end": 185, "referenceAllele": "G", "start": 184 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "ENST00000345165.10:c.109G>A" ], "proteinEffect": { "hgvs": "ENSP00000316851.5:p.Ala37Thr", "hgvsWellDefined": "ENSP00000316851.5:p.Ala37Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS748280", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000345165.10:c.109G>A" }, "RefSeq": { "hgvs": "NM_001378030.1:c.109G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000316851.5:p.Ala37Thr" }, "RefSeq": { "hgvs": "NP_001364959.1:p.Ala37Thr" } } } }, { "coordinates": [ { "allele": "A", "end": 422, "referenceAllele": "G", "start": 421 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "ENST00000650995.1:c.331G>A" ], "proteinEffect": { "hgvs": "ENSP00000498860.1:p.Ala111Thr", "hgvsWellDefined": "ENSP00000498860.1:p.Ala111Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS771412" }, { "coordinates": [ { "allele": "A", "end": 215, "referenceAllele": "G", "start": 214 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "ENST00000293889.10:c.109G>A" ], "proteinEffect": { "hgvs": "ENSP00000293889.6:p.Ala37Thr", "hgvsWellDefined": "ENSP00000293889.6:p.Ala37Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS253926" }, { "coordinates": [ { "allele": "A", "end": 107, "referenceAllele": "G", "start": 106 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "ENST00000423653.5:c.-345G>A" ], "proteinEffect": { "hgvs": "ENSP00000458590.1:n.-345G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS287871" }, { "coordinates": [ { "allele": "A", "end": 186, "referenceAllele": "G", "start": 185 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "ENST00000439619.6:n.186G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS295512" }, { "coordinates": [ { "allele": "A", "end": 109, "referenceAllele": "G", "start": 108 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "ENST00000460023.5:n.109G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS304860" }, { "coordinates": [ { "allele": "A", "end": 172, "referenceAllele": "G", "start": 171 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "ENST00000463539.5:n.172G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS307553" }, { "coordinates": [ { "allele": "A", "end": 315, "referenceAllele": "G", "start": 314 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "ENST00000466708.5:n.315G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS310004" }, { "coordinates": [ { "allele": "A", "end": 215, "referenceAllele": "G", "start": 214 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "ENST00000471861.5:n.215G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS313965" }, { "coordinates": [ { "allele": "A", "end": 177, "referenceAllele": "G", "start": 176 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "ENST00000474647.1:n.177G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS316111" }, { "coordinates": [ { "allele": "A", "end": 185, "referenceAllele": "G", "start": 184 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "ENST00000478979.5:n.185G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS319463" }, { "coordinates": [ { "allele": "A", "end": 185, "referenceAllele": "G", "start": 184 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "ENST00000481804.5:n.185G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS321645" }, { "coordinates": [ { "allele": "A", "end": 420, "referenceAllele": "G", "start": 419 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "ENST00000482878.5:n.420G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS322472" }, { "coordinates": [ { "allele": "A", "end": 171, "referenceAllele": "G", "start": 170 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "ENST00000485091.5:n.171G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS324207" }, { "coordinates": [ { "allele": "A", "end": 179, "referenceAllele": "G", "start": 178 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "ENST00000538176.5:n.179G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS361179" }, { "coordinates": [ { "allele": "T", "end": 42, "endIntronDirection": "-", "endIntronOffset": 36594, "referenceAllele": "C", "start": 42, "startIntronDirection": "-", "startIntronOffset": 36595 } ], "gene": "http://reg.genome.network/gene/GN007371", "geneNCBI_id": 10232, "geneSymbol": "MSLN", "hgvs": [ "ENST00000620831.4:c.-49-36595C>T" ], "proteinEffect": { "hgvs": "ENSP00000482893.1:n.-49-36595C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS405000" }, { "@id": "http://reg.genome.network/allele/PA2825353992", "coordinates": [ { "allele": "A", "end": 215, "referenceAllele": "G", "start": 214 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "NM_001031737.2:c.109G>A" ], "proteinEffect": { "hgvs": "NP_001026907.2:p.Ala37Thr", "hgvsWellDefined": "NP_001026907.2:p.Ala37Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS009022" }, { "coordinates": [ { "allele": "A", "end": 463, "referenceAllele": "G", "start": 462 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "XM_005255106.3:c.109G>A" ], "proteinEffect": { "hgvs": "XP_005255163.1:p.Ala37Thr", "hgvsWellDefined": "XP_005255163.1:p.Ala37Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS060839" }, { "coordinates": [ { "allele": "A", "end": 420, "referenceAllele": "G", "start": 419 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "XM_006720838.1:c.331G>A" ], "proteinEffect": { "hgvs": "XP_006720901.1:p.Ala111Thr", "hgvsWellDefined": "XP_006720901.1:p.Ala111Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS073831" }, { "coordinates": [ { "allele": "A", "end": 463, "referenceAllele": "G", "start": 462 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "XM_006720843.2:c.109G>A" ], "proteinEffect": { "hgvs": "XP_006720906.1:p.Ala37Thr", "hgvsWellDefined": "XP_006720906.1:p.Ala37Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS073832" }, { "coordinates": [ { "allele": "A", "end": 420, "referenceAllele": "G", "start": 419 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "XM_011522356.1:c.331G>A" ], "proteinEffect": { "hgvs": "XP_011520658.1:p.Ala111Thr", "hgvsWellDefined": "XP_011520658.1:p.Ala111Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS089509" }, { "coordinates": [ { "allele": "A", "end": 420, "referenceAllele": "G", "start": 419 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "XM_011522357.1:c.331G>A" ], "proteinEffect": { "hgvs": "XP_011520659.1:p.Ala111Thr", "hgvsWellDefined": "XP_011520659.1:p.Ala111Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS089510" }, { "coordinates": [ { "allele": "A", "end": 420, "referenceAllele": "G", "start": 419 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "XM_011522358.1:c.331G>A" ], "proteinEffect": { "hgvs": "XP_011520660.1:p.Ala111Thr", "hgvsWellDefined": "XP_011520660.1:p.Ala111Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS089511" }, { "coordinates": [ { "allele": "A", "end": 420, "referenceAllele": "G", "start": 419 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "XM_011522359.1:c.331G>A" ], "proteinEffect": { "hgvs": "XP_011520661.1:p.Ala111Thr", "hgvsWellDefined": "XP_011520661.1:p.Ala111Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS089512" }, { "coordinates": [ { "allele": "A", "end": 420, "referenceAllele": "G", "start": 419 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "XM_011522360.1:c.331G>A" ], "proteinEffect": { "hgvs": "XP_011520662.1:p.Ala111Thr", "hgvsWellDefined": "XP_011520662.1:p.Ala111Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS089513" }, { "coordinates": [ { "allele": "A", "end": 420, "referenceAllele": "G", "start": 419 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "XM_011522361.1:c.331G>A" ], "proteinEffect": { "hgvs": "XP_011520663.1:p.Ala111Thr", "hgvsWellDefined": "XP_011520663.1:p.Ala111Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS089514" }, { "coordinates": [ { "allele": "A", "end": 420, "referenceAllele": "G", "start": 419 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "XM_011522362.1:c.331G>A" ], "proteinEffect": { "hgvs": "XP_011520664.1:p.Ala111Thr", "hgvsWellDefined": "XP_011520664.1:p.Ala111Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS089515" }, { "coordinates": [ { "allele": "A", "end": 420, "referenceAllele": "G", "start": 419 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "XM_011522363.1:c.331G>A" ], "proteinEffect": { "hgvs": "XP_011520665.1:p.Ala111Thr", "hgvsWellDefined": "XP_011520665.1:p.Ala111Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS089516" }, { "coordinates": [ { "allele": "A", "end": 420, "referenceAllele": "G", "start": 419 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "XM_011522364.1:c.331G>A" ], "proteinEffect": { "hgvs": "XP_011520666.1:p.Ala111Thr", "hgvsWellDefined": "XP_011520666.1:p.Ala111Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS089517" }, { "coordinates": [ { "allele": "A", "end": 420, "referenceAllele": "G", "start": 419 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "XM_011522365.1:c.331G>A" ], "proteinEffect": { "hgvs": "XP_011520667.1:p.Ala111Thr", "hgvsWellDefined": "XP_011520667.1:p.Ala111Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS089518" }, { "coordinates": [ { "allele": "A", "end": 185, "referenceAllele": "G", "start": 184 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "XM_011522366.1:c.109G>A" ], "proteinEffect": { "hgvs": "XP_011520668.1:p.Ala37Thr", "hgvsWellDefined": "XP_011520668.1:p.Ala37Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS089519" }, { "coordinates": [ { "allele": "A", "end": 420, "referenceAllele": "G", "start": 419 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "XM_011522367.1:c.331G>A" ], "proteinEffect": { "hgvs": "XP_011520669.1:p.Ala111Thr", "hgvsWellDefined": "XP_011520669.1:p.Ala111Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS089520" }, { "coordinates": [ { "allele": "A", "end": 420, "referenceAllele": "G", "start": 419 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "XM_011522368.1:c.331G>A" ], "proteinEffect": { "hgvs": "XP_011520670.1:p.Ala111Thr", "hgvsWellDefined": "XP_011520670.1:p.Ala111Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS089521" }, { "coordinates": [ { "allele": "A", "end": 198, "referenceAllele": "G", "start": 197 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "XM_011522369.1:c.109G>A" ], "proteinEffect": { "hgvs": "XP_011520671.1:p.Ala37Thr", "hgvsWellDefined": "XP_011520671.1:p.Ala37Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS089522" }, { "coordinates": [ { "allele": "A", "end": 185, "referenceAllele": "G", "start": 184 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "XM_011522370.1:c.109G>A" ], "proteinEffect": { "hgvs": "XP_011520672.1:p.Ala37Thr", "hgvsWellDefined": "XP_011520672.1:p.Ala37Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS089523" }, { "coordinates": [ { "allele": "A", "end": 190, "referenceAllele": "G", "start": 189 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "XM_011522371.1:c.-177G>A" ], "proteinEffect": { "hgvs": "XP_011520673.1:n.-177G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS089524" }, { "coordinates": [ { "allele": "A", "end": 185, "referenceAllele": "G", "start": 184 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "XM_006720843.4:c.109G>A" ], "proteinEffect": { "hgvs": "XP_006720906.1:p.Ala37Thr", "hgvsWellDefined": "XP_006720906.1:p.Ala37Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS540178" }, { "coordinates": [ { "allele": "A", "end": 420, "referenceAllele": "G", "start": 419 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "XM_011522358.2:c.331G>A" ], "proteinEffect": { "hgvs": "XP_011520660.1:p.Ala111Thr", "hgvsWellDefined": "XP_011520660.1:p.Ala111Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS546565" }, { "coordinates": [ { "allele": "A", "end": 177, "referenceAllele": "G", "start": 176 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "XM_011522371.2:c.-177G>A" ], "proteinEffect": { "hgvs": "XP_011520673.1:n.-177G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS546566" }, { "coordinates": [ { "allele": "A", "end": 420, "referenceAllele": "G", "start": 419 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "XM_017022929.1:c.331G>A" ], "proteinEffect": { "hgvs": "XP_016878418.1:p.Ala111Thr", "hgvsWellDefined": "XP_016878418.1:p.Ala111Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS573772" }, { "coordinates": [ { "allele": "A", "end": 315, "referenceAllele": "G", "start": 314 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "XM_017022930.1:c.-345G>A" ], "proteinEffect": { "hgvs": "XP_016878419.1:n.-345G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS573773" }, { "coordinates": [ { "allele": "A", "end": 420, "referenceAllele": "G", "start": 419 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "XR_001751835.1:n.420G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS598635" }, { "coordinates": [ { "allele": "A", "end": 420, "referenceAllele": "G", "start": 419 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "XR_001751836.1:n.420G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS598636" }, { "coordinates": [ { "allele": "A", "end": 198, "referenceAllele": "G", "start": 197 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "XR_001751837.1:n.198G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS598637" }, { "coordinates": [ { "allele": "A", "end": 577, "referenceAllele": "G", "start": 576 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "XR_001751838.1:n.577G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS598638" }, { "coordinates": [ { "allele": "A", "end": 198, "referenceAllele": "G", "start": 197 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "XR_001751839.1:n.198G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS598639" }, { "@id": "http://reg.genome.network/allele/PA2825353992", "coordinates": [ { "allele": "A", "end": 185, "referenceAllele": "G", "start": 184 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "NM_001031737.3:c.109G>A" ], "proteinEffect": { "hgvs": "NP_001026907.2:p.Ala37Thr", "hgvsWellDefined": "NP_001026907.2:p.Ala37Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS675742" }, { "@id": "http://reg.genome.network/allele/PA2828735891", "coordinates": [ { "allele": "A", "end": 185, "referenceAllele": "G", "start": 184 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "NM_001378030.1:c.109G>A" ], "proteinEffect": { "hgvs": "NP_001364959.1:p.Ala37Thr", "hgvsWellDefined": "NP_001364959.1:p.Ala37Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS721393", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000345165.10:c.109G>A" }, "RefSeq": { "hgvs": "NM_001378030.1:c.109G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000316851.5:p.Ala37Thr" }, "RefSeq": { "hgvs": "NP_001364959.1:p.Ala37Thr" } } } }, { "@id": "http://reg.genome.network/allele/PA2499255831", "coordinates": [ { "allele": "A", "end": 185, "referenceAllele": "G", "start": 184 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "NM_001378031.1:c.109G>A" ], "proteinEffect": { "hgvs": "NP_001364960.1:p.Ala37Thr", "hgvsWellDefined": "NP_001364960.1:p.Ala37Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS721394" }, { "coordinates": [ { "allele": "A", "end": 141, "referenceAllele": "G", "start": 140 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "NM_001378033.1:c.-177G>A" ], "proteinEffect": { "hgvs": "NP_001364962.1:n.-177G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS721396" }, { "coordinates": [ { "allele": "A", "end": 407, "referenceAllele": "G", "start": 406 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "NR_165382.1:n.407G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS731656" }, { "coordinates": [ { "allele": "A", "end": 141, "referenceAllele": "G", "start": 140 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "NR_165383.1:n.141G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS731657" }, { "coordinates": [ { "allele": "A", "end": 141, "referenceAllele": "G", "start": 140 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "NR_165384.1:n.141G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS731658" }, { "coordinates": [ { "allele": "A", "end": 185, "referenceAllele": "G", "start": 184 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "NR_165385.1:n.185G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS731659" }, { "coordinates": [ { "allele": "A", "end": 185, "referenceAllele": "G", "start": 184 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "NR_165386.1:n.185G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS731660" } ], "type": "nucleotide" }