{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA10581455", "communityStandardTitle": [ "NM_001142730.3(KCTD1):c.2031C>A (p.Asp677Glu)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=237498[alleleid]", "alleleId": 237498, "preferredName": "NM_001142730.3(KCTD1):c.2031C>A (p.Asp677Glu)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/235827", "RCV": [ "RCV000224280" ], "variationId": 235827 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr18:g.24056581G>T?assembly=hg19", "id": "chr18:g.24056581G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr18:g.26476617G>T?assembly=hg38", "id": "chr18:g.26476617G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/878853124", "rs": 878853124 } ] }, "genomicAlleles": [ { "chromosome": "18", "coordinates": [ { "allele": "T", "end": 26476617, "referenceAllele": "G", "start": 26476616 } ], "hgvs": [ "NC_000018.10:g.26476617G>T", "CM000680.2:g.26476617G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000066" }, { "chromosome": "18", "coordinates": [ { "allele": "T", "end": 24056581, "referenceAllele": "G", "start": 24056580 } ], "hgvs": [ "NC_000018.9:g.24056581G>T", "CM000680.1:g.24056581G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000042" }, { "chromosome": "18", "coordinates": [ { "allele": "T", "end": 22310579, "referenceAllele": "G", "start": 22310578 } ], "hgvs": [ "NC_000018.8:g.22310579G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000018" }, { "coordinates": [ { "allele": "A", "end": 185896, "referenceAllele": "C", "start": 185895 } ], "hgvs": [ "NG_054919.1:g.185896C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS617556" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 2048, "referenceAllele": "C", "start": 2047 } ], "gene": "http://reg.genome.network/gene/GN018249", "geneNCBI_id": 284252, "geneSymbol": "KCTD1", "hgvs": [ "ENST00000580059.7:c.2031C>A" ], "proteinEffect": { "hgvs": "ENSP00000463041.2:p.Asp677Glu", "hgvsWellDefined": "ENSP00000463041.2:p.Asp677Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS760871", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000580059.7:c.2031C>A" }, "RefSeq": { "hgvs": "NM_001142730.3:c.2031C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000463041.2:p.Asp677Glu" }, "RefSeq": { "hgvs": "NP_001136202.1:p.Asp677Glu" } } } }, { "coordinates": [ { "allele": "A", "end": 318, "referenceAllele": "C", "start": 317 } ], "gene": "http://reg.genome.network/gene/GN018249", "geneNCBI_id": 284252, "geneSymbol": "KCTD1", "hgvs": [ "ENST00000317932.11:c.207C>A" ], "proteinEffect": { "hgvs": "ENSP00000314831.7:p.Asp69Glu", "hgvsWellDefined": "ENSP00000314831.7:p.Asp69Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS257449" }, { "coordinates": [ { "allele": "A", "end": 767, "referenceAllele": "C", "start": 766 } ], "gene": "http://reg.genome.network/gene/GN018249", "geneNCBI_id": 284252, "geneSymbol": "KCTD1", "hgvs": [ "ENST00000408011.7:c.207C>A" ], "proteinEffect": { "hgvs": "ENSP00000384367.3:p.Asp69Glu", "hgvsWellDefined": "ENSP00000384367.3:p.Asp69Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS281080" }, { "coordinates": [ { "allele": "A", "end": 308, "referenceAllele": "C", "start": 307 } ], "gene": "http://reg.genome.network/gene/GN018249", "geneNCBI_id": 284252, "geneSymbol": "KCTD1", "hgvs": [ "ENST00000417602.5:c.207C>A" ], "proteinEffect": { "hgvs": "ENSP00000408405.2:p.Asp69Glu", "hgvsWellDefined": "ENSP00000408405.2:p.Asp69Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS285002" }, { "coordinates": [ { "allele": "A", "end": 275, "referenceAllele": "C", "start": 274 } ], "gene": "http://reg.genome.network/gene/GN018249", "geneNCBI_id": 284252, "geneSymbol": "KCTD1", "hgvs": [ "ENST00000577255.1:n.275C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS384780" }, { "coordinates": [ { "allele": "A", "end": 451, "endIntronDirection": "-", "endIntronOffset": 16691, "referenceAllele": "C", "start": 451, "startIntronDirection": "-", "startIntronOffset": 16692 } ], "gene": "http://reg.genome.network/gene/GN018249", "geneNCBI_id": 284252, "geneSymbol": "KCTD1", "hgvs": [ "ENST00000578973.1:c.165-16692C>A" ], "proteinEffect": { "hgvs": "ENSP00000463608.1:n.165-16692C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS385617" }, { "coordinates": [ { "allele": "A", "end": 347, "referenceAllele": "C", "start": 346 } ], "gene": "http://reg.genome.network/gene/GN018249", "geneNCBI_id": 284252, "geneSymbol": "KCTD1", "hgvs": [ "ENST00000579973.5:c.207C>A" ], "proteinEffect": { "hgvs": "ENSP00000464170.1:p.Asp69Glu", "hgvsWellDefined": "ENSP00000464170.1:p.Asp69Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS386092" }, { "coordinates": [ { "allele": "A", "end": 613, "referenceAllele": "C", "start": 612 } ], "gene": "http://reg.genome.network/gene/GN018249", "geneNCBI_id": 284252, "geneSymbol": "KCTD1", "hgvs": [ "ENST00000580059.5:c.207C>A" ], "proteinEffect": { "hgvs": "ENSP00000463041.1:p.Asp69Glu", "hgvsWellDefined": "ENSP00000463041.1:p.Asp69Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS386141" }, { "coordinates": [ { "allele": "A", "end": 264, "referenceAllele": "C", "start": 263 } ], "gene": "http://reg.genome.network/gene/GN018249", "geneNCBI_id": 284252, "geneSymbol": "KCTD1", "hgvs": [ "ENST00000580191.5:c.231C>A" ], "proteinEffect": { "hgvs": "ENSP00000464261.1:p.Asp77Glu", "hgvsWellDefined": "ENSP00000464261.1:p.Asp77Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS386216" }, { "coordinates": [ { "allele": "A", "end": 313, "referenceAllele": "C", "start": 312 } ], "gene": "http://reg.genome.network/gene/GN018249", "geneNCBI_id": 284252, "geneSymbol": "KCTD1", "hgvs": [ "ENST00000580638.5:c.207C>A" ], "proteinEffect": { "hgvs": "ENSP00000462470.1:p.Asp69Glu", "hgvsWellDefined": "ENSP00000462470.1:p.Asp69Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS386416" }, { "@id": "http://reg.genome.network/allele/PA2825825045", "coordinates": [ { "allele": "A", "end": 767, "referenceAllele": "C", "start": 766 } ], "gene": "http://reg.genome.network/gene/GN018249", "geneNCBI_id": 284252, "geneSymbol": "KCTD1", "hgvs": [ "NM_001136205.2:c.207C>A" ], "proteinEffect": { "hgvs": "NP_001129677.1:p.Asp69Glu", "hgvsWellDefined": "NP_001129677.1:p.Asp69Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS012648" }, { "@id": "http://reg.genome.network/allele/PA2825811822", "coordinates": [ { "allele": "A", "end": 2031, "referenceAllele": "C", "start": 2030 } ], "gene": "http://reg.genome.network/gene/GN018249", "geneNCBI_id": 284252, "geneSymbol": "KCTD1", "hgvs": [ "NM_001142730.2:c.2031C>A" ], "proteinEffect": { "hgvs": "NP_001136202.1:p.Asp677Glu", "hgvsWellDefined": "NP_001136202.1:p.Asp677Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS013047" }, { "@id": "http://reg.genome.network/allele/PA645489588", "coordinates": [ { "allele": "A", "end": 308, "referenceAllele": "C", "start": 307 } ], "gene": "http://reg.genome.network/gene/GN018249", "geneNCBI_id": 284252, "geneSymbol": "KCTD1", "hgvs": [ "NM_001258221.1:c.207C>A" ], "proteinEffect": { "hgvs": "NP_001245150.1:p.Asp69Glu", "hgvsWellDefined": "NP_001245150.1:p.Asp69Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS019722" }, { "@id": "http://reg.genome.network/allele/PA915983899", "coordinates": [ { "allele": "A", "end": 264, "referenceAllele": "C", "start": 263 } ], "gene": "http://reg.genome.network/gene/GN018249", "geneNCBI_id": 284252, "geneSymbol": "KCTD1", "hgvs": [ "NM_001258222.1:c.231C>A" ], "proteinEffect": { "hgvs": "NP_001245151.1:p.Asp77Glu", "hgvsWellDefined": "NP_001245151.1:p.Asp77Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS019723" }, { "@id": "http://reg.genome.network/allele/PA2830462114", "coordinates": [ { "allele": "A", "end": 347, "referenceAllele": "C", "start": 346 } ], "gene": "http://reg.genome.network/gene/GN018249", "geneNCBI_id": 284252, "geneSymbol": "KCTD1", "hgvs": [ "NM_198991.3:c.207C>A" ], "proteinEffect": { "hgvs": "NP_945342.1:p.Asp69Glu", "hgvsWellDefined": "NP_945342.1:p.Asp69Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS044800" }, { "@id": "http://reg.genome.network/allele/PA915983899", "coordinates": [ { "allele": "A", "end": 375, "referenceAllele": "C", "start": 374 } ], "gene": "http://reg.genome.network/gene/GN018249", "geneNCBI_id": 284252, "geneSymbol": "KCTD1", "hgvs": [ "NM_001258222.2:c.231C>A" ], "proteinEffect": { "hgvs": "NP_001245151.1:p.Asp77Glu", "hgvsWellDefined": "NP_001245151.1:p.Asp77Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS511991" }, { "@id": "http://reg.genome.network/allele/PA2827609726", "coordinates": [ { "allele": "A", "end": 414, "referenceAllele": "C", "start": 413 } ], "gene": "http://reg.genome.network/gene/GN018249", "geneNCBI_id": 284252, "geneSymbol": "KCTD1", "hgvs": [ "NM_001351443.1:c.207C>A" ], "proteinEffect": { "hgvs": "NP_001338372.1:p.Asp69Glu", "hgvsWellDefined": "NP_001338372.1:p.Asp69Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS520214" }, { "coordinates": [ { "allele": "A", "end": 2336, "endIntronDirection": "-", "endIntronOffset": 16691, "referenceAllele": "C", "start": 2336, "startIntronDirection": "-", "startIntronOffset": 16692 } ], "gene": "http://reg.genome.network/gene/GN018249", "geneNCBI_id": 284252, "geneSymbol": "KCTD1", "hgvs": [ "XR_002958168.1:n.2337-16692C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS604294" }, { "@id": "http://reg.genome.network/allele/PA2825811822", "coordinates": [ { "allele": "A", "end": 2048, "referenceAllele": "C", "start": 2047 } ], "gene": "http://reg.genome.network/gene/GN018249", "geneNCBI_id": 284252, "geneSymbol": "KCTD1", "hgvs": [ "NM_001142730.3:c.2031C>A" ], "proteinEffect": { "hgvs": "NP_001136202.1:p.Asp677Glu", "hgvsWellDefined": "NP_001136202.1:p.Asp677Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS677612", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000580059.7:c.2031C>A" }, "RefSeq": { "hgvs": "NM_001142730.3:c.2031C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000463041.2:p.Asp677Glu" }, "RefSeq": { "hgvs": "NP_001136202.1:p.Asp677Glu" } } } }, { "@id": "http://reg.genome.network/allele/PA915983899", "coordinates": [ { "allele": "A", "end": 336, "referenceAllele": "C", "start": 335 } ], "gene": "http://reg.genome.network/gene/GN018249", "geneNCBI_id": 284252, "geneSymbol": "KCTD1", "hgvs": [ "NM_001258222.3:c.231C>A" ], "proteinEffect": { "hgvs": "NP_001245151.1:p.Asp77Glu", "hgvsWellDefined": "NP_001245151.1:p.Asp77Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS680779" }, { "@id": "http://reg.genome.network/allele/PA645489588", "coordinates": [ { "allele": "A", "end": 313, "referenceAllele": "C", "start": 312 } ], "gene": "http://reg.genome.network/gene/GN018249", "geneNCBI_id": 284252, "geneSymbol": "KCTD1", "hgvs": [ "NM_001258221.2:c.207C>A" ], "proteinEffect": { "hgvs": "NP_001245150.1:p.Asp69Glu", "hgvsWellDefined": "NP_001245150.1:p.Asp69Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS714918" }, { "@id": "http://reg.genome.network/allele/PA2830462114", "coordinates": [ { "allele": "A", "end": 347, "referenceAllele": "C", "start": 346 } ], "gene": "http://reg.genome.network/gene/GN018249", "geneNCBI_id": 284252, "geneSymbol": "KCTD1", "hgvs": [ "NM_198991.4:c.207C>A" ], "proteinEffect": { "hgvs": "NP_945342.1:p.Asp69Glu", "hgvsWellDefined": "NP_945342.1:p.Asp69Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS729950" } ], "type": "nucleotide" }