{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA5094924", "communityStandardTitle": [ "NM_001330691.3(CEP78):c.473G>T (p.Cys158Phe)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1046230[alleleid]", "alleleId": 1046230, "preferredName": "NM_001330691.3(CEP78):c.473G>T (p.Cys158Phe)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1058404", "RCV": [ "RCV001367538" ], "variationId": 1058404 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/9-80855254-G-T", "id": "9-80855254-G-T", "variant": "9:80855254 G / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.80855254G>T?assembly=hg19", "id": "chr9:g.80855254G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.78240338G>T?assembly=hg38", "id": "chr9:g.78240338G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/754595005", "rs": 754595005 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-80855254-G-T?dataset=gnomad_r2_1", "id": "9-80855254-G-T", "variant": "9:80855254 G / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-78240338-G-T?dataset=gnomad_r4", "id": "9-78240338-G-T", "variant": "9:78240338 G / T" } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 78240338, "referenceAllele": "G", "start": 78240337 } ], "hgvs": [ "NC_000009.12:g.78240338G>T", "CM000671.2:g.78240338G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 80855254, "referenceAllele": "G", "start": 80855253 } ], "hgvs": [ "NC_000009.11:g.80855254G>T", "CM000671.1:g.80855254G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 80045074, "referenceAllele": "G", "start": 80045073 } ], "hgvs": [ "NC_000009.10:g.80045074G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "T", "end": 9277, "referenceAllele": "G", "start": 9276 } ], "hgvs": [ "NG_053171.1:g.9277G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS617451" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 617, "referenceAllele": "G", "start": 616 } ], "gene": "http://reg.genome.network/gene/GN025740", "geneNCBI_id": 84131, "geneSymbol": "CEP78", "hgvs": [ "ENST00000376597.9:c.473G>T" ], "proteinEffect": { "hgvs": "ENSP00000365782.4:p.Cys158Phe", "hgvsWellDefined": "ENSP00000365782.4:p.Cys158Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS751790" }, { "coordinates": [ { "allele": "T", "end": 473, "referenceAllele": "G", "start": 472 } ], "gene": "http://reg.genome.network/gene/GN025740", "geneNCBI_id": 84131, "geneSymbol": "CEP78", "hgvs": [ "ENST00000376598.3:c.473G>T" ], "proteinEffect": { "hgvs": "ENSP00000365783.3:p.Cys158Phe", "hgvsWellDefined": "ENSP00000365783.3:p.Cys158Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS751791" }, { "coordinates": [ { "allele": "T", "end": 527, "referenceAllele": "G", "start": 526 } ], "gene": "http://reg.genome.network/gene/GN025740", "geneNCBI_id": 84131, "geneSymbol": "CEP78", "hgvs": [ "ENST00000642214.1:c.473G>T" ], "proteinEffect": { "hgvs": "ENSP00000493662.1:p.Cys158Phe", "hgvsWellDefined": "ENSP00000493662.1:p.Cys158Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS766619" }, { "coordinates": [ { "allele": "T", "end": 779, "referenceAllele": "G", "start": 778 } ], "gene": "http://reg.genome.network/gene/GN025740", "geneNCBI_id": 84131, "geneSymbol": "CEP78", "hgvs": [ "ENST00000642654.1:c.*268G>T" ], "proteinEffect": { "hgvs": "ENSP00000495267.1:n.*268G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS766862" }, { "coordinates": [ { "allele": "T", "end": 554, "referenceAllele": "G", "start": 553 } ], "gene": "http://reg.genome.network/gene/GN025740", "geneNCBI_id": 84131, "geneSymbol": "CEP78", "hgvs": [ "ENST00000642669.1:c.473G>T" ], "proteinEffect": { "hgvs": "ENSP00000495681.1:p.Cys158Phe", "hgvsWellDefined": "ENSP00000495681.1:p.Cys158Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS766866" }, { "coordinates": [ { "allele": "T", "end": 749, "referenceAllele": "G", "start": 748 } ], "gene": "http://reg.genome.network/gene/GN025740", "geneNCBI_id": 84131, "geneSymbol": "CEP78", "hgvs": [ "ENST00000643273.2:c.473G>T" ], "proteinEffect": { "hgvs": "ENSP00000496423.2:p.Cys158Phe", "hgvsWellDefined": "ENSP00000496423.2:p.Cys158Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS767190", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000643273.2:c.473G>T" }, "RefSeq": { "hgvs": "NM_001330691.3:c.473G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000496423.2:p.Cys158Phe" }, "RefSeq": { "hgvs": "NP_001317620.1:p.Cys158Phe" } } } }, { "coordinates": [ { "allele": "T", "end": 752, "referenceAllele": "G", "start": 751 } ], "gene": "http://reg.genome.network/gene/GN025740", "geneNCBI_id": 84131, "geneSymbol": "CEP78", "hgvs": [ "ENST00000643347.1:c.473G>T" ], "proteinEffect": { "hgvs": "ENSP00000494781.1:p.Cys158Phe", "hgvsWellDefined": "ENSP00000494781.1:p.Cys158Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS767230" }, { "coordinates": [ { "allele": "T", "end": 716, "referenceAllele": "G", "start": 715 } ], "gene": "http://reg.genome.network/gene/GN025740", "geneNCBI_id": 84131, "geneSymbol": "CEP78", "hgvs": [ "ENST00000643499.1:c.473G>T" ], "proteinEffect": { "hgvs": "ENSP00000495962.1:p.Cys158Phe", "hgvsWellDefined": "ENSP00000495962.1:p.Cys158Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS767313" }, { "coordinates": [ { "allele": "T", "end": 719, "referenceAllele": "G", "start": 718 } ], "gene": "http://reg.genome.network/gene/GN025740", "geneNCBI_id": 84131, "geneSymbol": "CEP78", "hgvs": [ "ENST00000643847.1:c.473G>T" ], "proteinEffect": { "hgvs": "ENSP00000494276.1:p.Cys158Phe", "hgvsWellDefined": "ENSP00000494276.1:p.Cys158Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS767505" }, { "coordinates": [ { "allele": "T", "end": 490, "referenceAllele": "G", "start": 489 } ], "gene": "http://reg.genome.network/gene/GN025740", "geneNCBI_id": 84131, "geneSymbol": "CEP78", "hgvs": [ "ENST00000644208.1:c.473G>T" ], "proteinEffect": { "hgvs": "ENSP00000493600.1:p.Cys158Phe", "hgvsWellDefined": "ENSP00000493600.1:p.Cys158Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS767699" }, { "coordinates": [ { "allele": "T", "end": 759, "referenceAllele": "G", "start": 758 } ], "gene": "http://reg.genome.network/gene/GN025740", "geneNCBI_id": 84131, "geneSymbol": "CEP78", "hgvs": [ "ENST00000645398.1:c.473G>T" ], "proteinEffect": { "hgvs": "ENSP00000493822.1:p.Cys158Phe", "hgvsWellDefined": "ENSP00000493822.1:p.Cys158Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS768330" }, { "coordinates": [ { "allele": "T", "end": 753, "endIntronDirection": "+", "endIntronOffset": 143, "referenceAllele": "G", "start": 753, "startIntronDirection": "+", "startIntronOffset": 142 } ], "gene": "http://reg.genome.network/gene/GN025740", "geneNCBI_id": 84131, "geneSymbol": "CEP78", "hgvs": [ "ENST00000645865.1:c.*221+143G>T" ], "proteinEffect": { "hgvs": "ENSP00000494841.1:n.*221+143G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS768580" }, { "coordinates": [ { "allele": "T", "end": 529, "referenceAllele": "G", "start": 528 } ], "gene": "http://reg.genome.network/gene/GN025740", "geneNCBI_id": 84131, "geneSymbol": "CEP78", "hgvs": [ "ENST00000646288.1:c.529G>T" ], "proteinEffect": { "hgvs": "ENSP00000496131.1:n.529G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS768799" }, { "coordinates": [ { "allele": "T", "end": 508, "referenceAllele": "G", "start": 507 } ], "gene": "http://reg.genome.network/gene/GN025740", "geneNCBI_id": 84131, "geneSymbol": "CEP78", "hgvs": [ "ENST00000647130.1:c.508G>T" ], "proteinEffect": { "hgvs": "ENSP00000496303.1:n.508G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS769252" }, { "coordinates": [ { "allele": "T", "end": 744, "referenceAllele": "G", "start": 743 } ], "gene": "http://reg.genome.network/gene/GN025740", "geneNCBI_id": 84131, "geneSymbol": "CEP78", "hgvs": [ "ENST00000647199.1:c.473G>T" ], "proteinEffect": { "hgvs": "ENSP00000496384.1:p.Cys158Phe", "hgvsWellDefined": "ENSP00000496384.1:p.Cys158Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS769284" }, { "coordinates": [ { "allele": "T", "end": 592, "referenceAllele": "G", "start": 591 } ], "gene": "http://reg.genome.network/gene/GN025740", "geneNCBI_id": 84131, "geneSymbol": "CEP78", "hgvs": [ "ENST00000277082.9:c.473G>T" ], "proteinEffect": { "hgvs": "ENSP00000277082.5:p.Cys158Phe", "hgvsWellDefined": "ENSP00000277082.5:p.Cys158Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS252729" }, { "coordinates": [ { "allele": "T", "end": 617, "referenceAllele": "G", "start": 616 } ], "gene": "http://reg.genome.network/gene/GN025740", "geneNCBI_id": 84131, "geneSymbol": "CEP78", "hgvs": [ "ENST00000376597.8:c.473G>T" ], "proteinEffect": { "hgvs": "ENSP00000365782.4:p.Cys158Phe", "hgvsWellDefined": "ENSP00000365782.4:p.Cys158Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS271236" }, { "coordinates": [ { "allele": "T", "end": 473, "referenceAllele": "G", "start": 472 } ], "gene": "http://reg.genome.network/gene/GN025740", "geneNCBI_id": 84131, "geneSymbol": "CEP78", "hgvs": [ "ENST00000376598.2:c.473G>T" ], "proteinEffect": { "hgvs": "ENSP00000365783.2:p.Cys158Phe", "hgvsWellDefined": "ENSP00000365783.2:p.Cys158Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS271237" }, { "coordinates": [ { "allele": "T", "end": 662, "referenceAllele": "G", "start": 661 } ], "gene": "http://reg.genome.network/gene/GN025740", "geneNCBI_id": 84131, "geneSymbol": "CEP78", "hgvs": [ "ENST00000415759.6:c.473G>T" ], "proteinEffect": { "hgvs": "ENSP00000399286.2:p.Cys158Phe", "hgvsWellDefined": "ENSP00000399286.2:p.Cys158Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS284134" }, { "coordinates": [ { "allele": "T", "end": 762, "referenceAllele": "G", "start": 761 } ], "gene": "http://reg.genome.network/gene/GN025740", "geneNCBI_id": 84131, "geneSymbol": "CEP78", "hgvs": [ "ENST00000424347.6:c.473G>T" ], "proteinEffect": { "hgvs": "ENSP00000411284.2:p.Cys158Phe", "hgvsWellDefined": "ENSP00000411284.2:p.Cys158Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS288213" }, { "coordinates": [ { "allele": "T", "end": 463, "endIntronDirection": "+", "endIntronOffset": 3735, "referenceAllele": "G", "start": 463, "startIntronDirection": "+", "startIntronOffset": 3734 } ], "gene": "http://reg.genome.network/gene/GN025740", "geneNCBI_id": 84131, "geneSymbol": "CEP78", "hgvs": [ "ENST00000476652.2:n.463+3735G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS317649" }, { "coordinates": [ { "allele": "T", "end": 799, "referenceAllele": "G", "start": 798 } ], "gene": "http://reg.genome.network/gene/GN025740", "geneNCBI_id": 84131, "geneSymbol": "CEP78", "hgvs": [ "ENST00000536374.1:n.799G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS360233" }, { "@id": "http://reg.genome.network/allele/PA2825533882", "coordinates": [ { "allele": "T", "end": 749, "referenceAllele": "G", "start": 748 } ], "gene": "http://reg.genome.network/gene/GN025740", "geneNCBI_id": 84131, "geneSymbol": "CEP78", "hgvs": [ "NM_001098802.1:c.473G>T" ], "proteinEffect": { "hgvs": "NP_001092272.1:p.Cys158Phe", "hgvsWellDefined": "NP_001092272.1:p.Cys158Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS010679" }, { "@id": "http://reg.genome.network/allele/PA2499293099", "coordinates": [ { "allele": "T", "end": 749, "referenceAllele": "G", "start": 748 } ], "gene": "http://reg.genome.network/gene/GN025740", "geneNCBI_id": 84131, "geneSymbol": "CEP78", "hgvs": [ "NM_032171.1:c.473G>T" ], "proteinEffect": { "hgvs": "NP_115547.1:p.Cys158Phe", "hgvsWellDefined": "NP_115547.1:p.Cys158Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS038892" }, { "coordinates": [ { "allele": "T", "end": 762, "referenceAllele": "G", "start": 761 } ], "gene": "http://reg.genome.network/gene/GN025740", "geneNCBI_id": 84131, "geneSymbol": "CEP78", "hgvs": [ "XM_005252263.3:c.473G>T" ], "proteinEffect": { "hgvs": "XP_005252320.1:p.Cys158Phe", "hgvsWellDefined": "XP_005252320.1:p.Cys158Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS059878" }, { "coordinates": [ { "allele": "T", "end": 762, "referenceAllele": "G", "start": 761 } ], "gene": "http://reg.genome.network/gene/GN025740", "geneNCBI_id": 84131, "geneSymbol": "CEP78", "hgvs": [ "XM_005252265.1:c.473G>T" ], "proteinEffect": { "hgvs": "XP_005252322.1:p.Cys158Phe", "hgvsWellDefined": "XP_005252322.1:p.Cys158Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS059879" }, { "coordinates": [ { "allele": "T", "end": 794, "referenceAllele": "G", "start": 793 } ], "gene": "http://reg.genome.network/gene/GN025740", "geneNCBI_id": 84131, "geneSymbol": "CEP78", "hgvs": [ "XM_005252266.3:c.212G>T" ], "proteinEffect": { "hgvs": "XP_005252323.1:p.Cys71Phe", "hgvsWellDefined": "XP_005252323.1:p.Cys71Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS059880" }, { "@id": "http://reg.genome.network/allele/PA2825533882", "coordinates": [ { "allele": "T", "end": 762, "referenceAllele": "G", "start": 761 } ], "gene": "http://reg.genome.network/gene/GN025740", "geneNCBI_id": 84131, "geneSymbol": "CEP78", "hgvs": [ "NM_001098802.2:c.473G>T" ], "proteinEffect": { "hgvs": "NP_001092272.1:p.Cys158Phe", "hgvsWellDefined": "NP_001092272.1:p.Cys158Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS511290" }, { "@id": "http://reg.genome.network/allele/PA2827342501", "coordinates": [ { "allele": "T", "end": 762, "referenceAllele": "G", "start": 761 } ], "gene": "http://reg.genome.network/gene/GN025740", "geneNCBI_id": 84131, "geneSymbol": "CEP78", "hgvs": [ "NM_001330691.2:c.473G>T" ], "proteinEffect": { "hgvs": "NP_001317620.1:p.Cys158Phe", "hgvsWellDefined": "NP_001317620.1:p.Cys158Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS517023" }, { "@id": "http://reg.genome.network/allele/PA2827342882", "coordinates": [ { "allele": "T", "end": 762, "referenceAllele": "G", "start": 761 } ], "gene": "http://reg.genome.network/gene/GN025740", "geneNCBI_id": 84131, "geneSymbol": "CEP78", "hgvs": [ "NM_001330693.2:c.473G>T" ], "proteinEffect": { "hgvs": "NP_001317622.1:p.Cys158Phe", "hgvsWellDefined": "NP_001317622.1:p.Cys158Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS517025" }, { "@id": "http://reg.genome.network/allele/PA2827343245", "coordinates": [ { "allele": "T", "end": 762, "referenceAllele": "G", "start": 761 } ], "gene": "http://reg.genome.network/gene/GN025740", "geneNCBI_id": 84131, "geneSymbol": "CEP78", "hgvs": [ "NM_001330694.1:c.473G>T" ], "proteinEffect": { "hgvs": "NP_001317623.1:p.Cys158Phe", "hgvsWellDefined": "NP_001317623.1:p.Cys158Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS517026" }, { "@id": "http://reg.genome.network/allele/PA2827514087", "coordinates": [ { "allele": "T", "end": 762, "referenceAllele": "G", "start": 761 } ], "gene": "http://reg.genome.network/gene/GN025740", "geneNCBI_id": 84131, "geneSymbol": "CEP78", "hgvs": [ "NM_001349838.1:c.473G>T" ], "proteinEffect": { "hgvs": "NP_001336767.1:p.Cys158Phe", "hgvsWellDefined": "NP_001336767.1:p.Cys158Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS518970" }, { "@id": "http://reg.genome.network/allele/PA2827514466", "coordinates": [ { "allele": "T", "end": 762, "referenceAllele": "G", "start": 761 } ], "gene": "http://reg.genome.network/gene/GN025740", "geneNCBI_id": 84131, "geneSymbol": "CEP78", "hgvs": [ "NM_001349839.1:c.473G>T" ], "proteinEffect": { "hgvs": "NP_001336768.1:p.Cys158Phe", "hgvsWellDefined": "NP_001336768.1:p.Cys158Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS518971" }, { "@id": "http://reg.genome.network/allele/PA2827514804", "coordinates": [ { "allele": "T", "end": 762, "referenceAllele": "G", "start": 761 } ], "gene": "http://reg.genome.network/gene/GN025740", "geneNCBI_id": 84131, "geneSymbol": "CEP78", "hgvs": [ "NM_001349840.1:c.473G>T" ], "proteinEffect": { "hgvs": "NP_001336769.1:p.Cys158Phe", "hgvsWellDefined": "NP_001336769.1:p.Cys158Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS518972" }, { "@id": "http://reg.genome.network/allele/PA2499293099", "coordinates": [ { "allele": "T", "end": 762, "referenceAllele": "G", "start": 761 } ], "gene": "http://reg.genome.network/gene/GN025740", "geneNCBI_id": 84131, "geneSymbol": "CEP78", "hgvs": [ "NM_032171.2:c.473G>T" ], "proteinEffect": { "hgvs": "NP_115547.1:p.Cys158Phe", "hgvsWellDefined": "NP_115547.1:p.Cys158Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS526304" }, { "coordinates": [ { "allele": "T", "end": 756, "referenceAllele": "G", "start": 755 } ], "gene": "http://reg.genome.network/gene/GN025740", "geneNCBI_id": 84131, "geneSymbol": "CEP78", "hgvs": [ "XM_005252266.4:c.212G>T" ], "proteinEffect": { "hgvs": "XP_005252323.1:p.Cys71Phe", "hgvsWellDefined": "XP_005252323.1:p.Cys71Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS533771" }, { "coordinates": [ { "allele": "T", "end": 756, "referenceAllele": "G", "start": 755 } ], "gene": "http://reg.genome.network/gene/GN025740", "geneNCBI_id": 84131, "geneSymbol": "CEP78", "hgvs": [ "XM_017015196.1:c.212G>T" ], "proteinEffect": { "hgvs": "XP_016870685.1:p.Cys71Phe", "hgvsWellDefined": "XP_016870685.1:p.Cys71Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS567972" }, { "@id": "http://reg.genome.network/allele/PA2825533882", "coordinates": [ { "allele": "T", "end": 749, "referenceAllele": "G", "start": 748 } ], "gene": "http://reg.genome.network/gene/GN025740", "geneNCBI_id": 84131, "geneSymbol": "CEP78", "hgvs": [ "NM_001098802.3:c.473G>T" ], "proteinEffect": { "hgvs": "NP_001092272.1:p.Cys158Phe", "hgvsWellDefined": "NP_001092272.1:p.Cys158Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS676483" }, { "@id": "http://reg.genome.network/allele/PA2827342501", "coordinates": [ { "allele": "T", "end": 749, "referenceAllele": "G", "start": 748 } ], "gene": "http://reg.genome.network/gene/GN025740", "geneNCBI_id": 84131, "geneSymbol": "CEP78", "hgvs": [ "NM_001330691.3:c.473G>T" ], "proteinEffect": { "hgvs": "NP_001317620.1:p.Cys158Phe", "hgvsWellDefined": "NP_001317620.1:p.Cys158Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS687069", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000643273.2:c.473G>T" }, "RefSeq": { "hgvs": "NM_001330691.3:c.473G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000496423.2:p.Cys158Phe" }, "RefSeq": { "hgvs": "NP_001317620.1:p.Cys158Phe" } } } }, { "@id": "http://reg.genome.network/allele/PA2827342882", "coordinates": [ { "allele": "T", "end": 749, "referenceAllele": "G", "start": 748 } ], "gene": "http://reg.genome.network/gene/GN025740", "geneNCBI_id": 84131, "geneSymbol": "CEP78", "hgvs": [ "NM_001330693.3:c.473G>T" ], "proteinEffect": { "hgvs": "NP_001317622.1:p.Cys158Phe", "hgvsWellDefined": "NP_001317622.1:p.Cys158Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS687071" }, { "@id": "http://reg.genome.network/allele/PA2827343245", "coordinates": [ { "allele": "T", "end": 749, "referenceAllele": "G", "start": 748 } ], "gene": "http://reg.genome.network/gene/GN025740", "geneNCBI_id": 84131, "geneSymbol": "CEP78", "hgvs": [ "NM_001330694.2:c.473G>T" ], "proteinEffect": { "hgvs": "NP_001317623.1:p.Cys158Phe", "hgvsWellDefined": "NP_001317623.1:p.Cys158Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS687072" }, { "@id": "http://reg.genome.network/allele/PA2827514087", "coordinates": [ { "allele": "T", "end": 749, "referenceAllele": "G", "start": 748 } ], "gene": "http://reg.genome.network/gene/GN025740", "geneNCBI_id": 84131, "geneSymbol": "CEP78", "hgvs": [ "NM_001349838.2:c.473G>T" ], "proteinEffect": { "hgvs": "NP_001336767.1:p.Cys158Phe", "hgvsWellDefined": "NP_001336767.1:p.Cys158Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS688109" }, { "@id": "http://reg.genome.network/allele/PA2827514466", "coordinates": [ { "allele": "T", "end": 749, "referenceAllele": "G", "start": 748 } ], "gene": "http://reg.genome.network/gene/GN025740", "geneNCBI_id": 84131, "geneSymbol": "CEP78", "hgvs": [ "NM_001349839.2:c.473G>T" ], "proteinEffect": { "hgvs": "NP_001336768.1:p.Cys158Phe", "hgvsWellDefined": "NP_001336768.1:p.Cys158Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS688110" }, { "@id": "http://reg.genome.network/allele/PA2827514804", "coordinates": [ { "allele": "T", "end": 749, "referenceAllele": "G", "start": 748 } ], "gene": "http://reg.genome.network/gene/GN025740", "geneNCBI_id": 84131, "geneSymbol": "CEP78", "hgvs": [ "NM_001349840.2:c.473G>T" ], "proteinEffect": { "hgvs": "NP_001336769.1:p.Cys158Phe", "hgvsWellDefined": "NP_001336769.1:p.Cys158Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS688111" }, { "@id": "http://reg.genome.network/allele/PA2499293099", "coordinates": [ { "allele": "T", "end": 749, "referenceAllele": "G", "start": 748 } ], "gene": "http://reg.genome.network/gene/GN025740", "geneNCBI_id": 84131, "geneSymbol": "CEP78", "hgvs": [ "NM_032171.3:c.473G>T" ], "proteinEffect": { "hgvs": "NP_115547.1:p.Cys158Phe", "hgvsWellDefined": "NP_115547.1:p.Cys158Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS699047" } ], "type": "nucleotide" }