{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA220173", "communityStandardTitle": [ "NM_000016.6(ACADM):c.157C>T (p.Arg53Cys)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3492381", "active": true, "id": "COSM3492381" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=98169[alleleid]", "alleleId": 98169, "preferredName": "NM_000016.6(ACADM):c.157C>T (p.Arg53Cys)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/92258", "RCV": [ "RCV000077882", "RCV000176961" ], "variationId": 92258 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/1-76198367-C-T", "id": "1-76198367-C-T", "variant": "1:76198367 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.76198367C>T?assembly=hg19", "id": "chr1:g.76198367C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.75732682C>T?assembly=hg38", "id": "chr1:g.75732682C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/398123072", "rs": 398123072 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-76198367-C-T?dataset=gnomad_r2_1", "id": "1-76198367-C-T", "variant": "1:76198367 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-75732682-C-T?dataset=gnomad_r3", "id": "1-75732682-C-T", "variant": "1:75732682 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-75732682-C-T?dataset=gnomad_r4", "id": "1-75732682-C-T", "variant": "1:75732682 C / T" } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 75732682, "referenceAllele": "C", "start": 75732681 } ], "hgvs": [ "NC_000001.11:g.75732682C>T", "CM000663.2:g.75732682C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 76198367, "referenceAllele": "C", "start": 76198366 } ], "hgvs": [ "NC_000001.10:g.76198367C>T", "CM000663.1:g.76198367C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 75970955, "referenceAllele": "C", "start": 75970954 } ], "hgvs": [ "NC_000001.9:g.75970955C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "T", "end": 13325, "referenceAllele": "C", "start": 13324 } ], "hgvs": [ "NG_007045.2:g.13325C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000444" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 236, "referenceAllele": "C", "start": 235 } ], "gene": "http://reg.genome.network/gene/GN000089", "geneNCBI_id": 34, "geneSymbol": "ACADM", "hgvs": [ "ENST00000370841.9:c.157C>T" ], "proteinEffect": { "hgvs": "ENSP00000359878.5:p.Arg53Cys", "hgvsWellDefined": "ENSP00000359878.5:p.Arg53Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS750687", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000370841.9:c.157C>T" }, "RefSeq": { "hgvs": "NM_000016.6:c.157C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000359878.5:p.Arg53Cys" }, "RefSeq": { "hgvs": "NP_000007.1:p.Arg53Cys" } } } }, { "coordinates": [ { "allele": "T", "end": 514, "referenceAllele": "C", "start": 513 } ], "gene": "http://reg.genome.network/gene/GN000089", "geneNCBI_id": 34, "geneSymbol": "ACADM", "hgvs": [ "ENST00000473018.3:n.514C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS757083" }, { "coordinates": [ { "allele": "T", "end": 514, "referenceAllele": "C", "start": 513 } ], "gene": "http://reg.genome.network/gene/GN000089", "geneNCBI_id": 34, "geneSymbol": "ACADM", "hgvs": [ "ENST00000525881.6:n.514C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS758937" }, { "coordinates": [ { "allele": "T", "end": 514, "referenceAllele": "C", "start": 513 } ], "gene": "http://reg.genome.network/gene/GN000089", "geneNCBI_id": 34, "geneSymbol": "ACADM", "hgvs": [ "ENST00000541113.6:c.157C>T" ], "proteinEffect": { "hgvs": "ENSP00000442324.2:p.Arg53Cys", "hgvsWellDefined": "ENSP00000442324.2:p.Arg53Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS759657" }, { "coordinates": [ { "allele": "T", "end": 514, "referenceAllele": "C", "start": 513 } ], "gene": "http://reg.genome.network/gene/GN000089", "geneNCBI_id": 34, "geneSymbol": "ACADM", "hgvs": [ "ENST00000679509.1:n.514C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS779140" }, { "coordinates": [ { "allele": "T", "end": 514, "referenceAllele": "C", "start": 513 } ], "gene": "http://reg.genome.network/gene/GN000089", "geneNCBI_id": 34, "geneSymbol": "ACADM", "hgvs": [ "ENST00000679530.1:c.157C>T" ], "proteinEffect": { "hgvs": "ENSP00000506454.1:p.Arg53Cys", "hgvsWellDefined": "ENSP00000506454.1:p.Arg53Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS779159" }, { "coordinates": [ { "allele": "T", "end": 514, "referenceAllele": "C", "start": 513 } ], "gene": "http://reg.genome.network/gene/GN000089", "geneNCBI_id": 34, "geneSymbol": "ACADM", "hgvs": [ "ENST00000679615.1:n.514C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS779243" }, { "coordinates": [ { "allele": "T", "end": 57, "endIntronDirection": "-", "endIntronOffset": 7297, "referenceAllele": "C", "start": 57, "startIntronDirection": "-", "startIntronOffset": 7298 } ], "gene": "http://reg.genome.network/gene/GN000089", "geneNCBI_id": 34, "geneSymbol": "ACADM", "hgvs": [ "ENST00000679687.1:c.31-7298C>T" ], "proteinEffect": { "hgvs": "ENSP00000506598.1:n.31-7298C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS779314" }, { "coordinates": [ { "allele": "T", "end": 90, "referenceAllele": "C", "start": 89 } ], "gene": "http://reg.genome.network/gene/GN000089", "geneNCBI_id": 34, "geneSymbol": "ACADM", "hgvs": [ "ENST00000679704.1:c.69C>T" ], "proteinEffect": { "hgvs": "ENSP00000505117.1:p.Leu23=" }, "referenceSequence": "http://reg.genome.network/refseq/RS779331" }, { "coordinates": [ { "allele": "T", "end": 358, "referenceAllele": "C", "start": 357 } ], "gene": "http://reg.genome.network/gene/GN000089", "geneNCBI_id": 34, "geneSymbol": "ACADM", "hgvs": [ "ENST00000679709.1:c.*120C>T" ], "proteinEffect": { "hgvs": "ENSP00000506623.1:n.*120C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS779336" }, { "coordinates": [ { "allele": "T", "end": 78, "referenceAllele": "C", "start": 77 } ], "gene": "http://reg.genome.network/gene/GN000089", "geneNCBI_id": 34, "geneSymbol": "ACADM", "hgvs": [ "ENST00000679804.1:n.78C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS779428" }, { "coordinates": [ { "allele": "T", "end": 514, "referenceAllele": "C", "start": 513 } ], "gene": "http://reg.genome.network/gene/GN000089", "geneNCBI_id": 34, "geneSymbol": "ACADM", "hgvs": [ "ENST00000679976.1:c.157C>T" ], "proteinEffect": { "hgvs": "ENSP00000505565.1:p.Arg53Cys", "hgvsWellDefined": "ENSP00000505565.1:p.Arg53Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS779598" }, { "coordinates": [ { "allele": "T", "end": 1679, "referenceAllele": "C", "start": 1678 } ], "gene": "http://reg.genome.network/gene/GN000089", "geneNCBI_id": 34, "geneSymbol": "ACADM", "hgvs": [ "ENST00000680166.1:n.1679C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS779786" }, { "coordinates": [ { "allele": "T", "end": 514, "referenceAllele": "C", "start": 513 } ], "gene": "http://reg.genome.network/gene/GN000089", "geneNCBI_id": 34, "geneSymbol": "ACADM", "hgvs": [ "ENST00000680517.1:c.157C>T" ], "proteinEffect": { "hgvs": "ENSP00000505803.1:p.Arg53Cys", "hgvsWellDefined": "ENSP00000505803.1:p.Arg53Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS780133" }, { "coordinates": [ { "allele": "T", "end": 514, "referenceAllele": "C", "start": 513 } ], "gene": "http://reg.genome.network/gene/GN000089", "geneNCBI_id": 34, "geneSymbol": "ACADM", "hgvs": [ "ENST00000680582.1:n.514C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS780197" }, { "coordinates": [ { "allele": "T", "end": 514, "referenceAllele": "C", "start": 513 } ], "gene": "http://reg.genome.network/gene/GN000089", "geneNCBI_id": 34, "geneSymbol": "ACADM", "hgvs": [ "ENST00000680613.1:c.157C>T" ], "proteinEffect": { "hgvs": "ENSP00000506114.1:p.Arg53Cys", "hgvsWellDefined": "ENSP00000506114.1:p.Arg53Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS780228" }, { "coordinates": [ { "allele": "T", "end": 287, "referenceAllele": "C", "start": 286 } ], "gene": "http://reg.genome.network/gene/GN000089", "geneNCBI_id": 34, "geneSymbol": "ACADM", "hgvs": [ "ENST00000680662.1:c.*71C>T" ], "proteinEffect": { "hgvs": "ENSP00000505080.1:n.*71C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS780277" }, { "coordinates": [ { "allele": "T", "end": 514, "referenceAllele": "C", "start": 513 } ], "gene": "http://reg.genome.network/gene/GN000089", "geneNCBI_id": 34, "geneSymbol": "ACADM", "hgvs": [ "ENST00000680691.1:c.157C>T" ], "proteinEffect": { "hgvs": "ENSP00000506487.1:p.Arg53Cys", "hgvsWellDefined": "ENSP00000506487.1:p.Arg53Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS780306" }, { "coordinates": [ { "allele": "T", "end": 514, "referenceAllele": "C", "start": 513 } ], "gene": "http://reg.genome.network/gene/GN000089", "geneNCBI_id": 34, "geneSymbol": "ACADM", "hgvs": [ "ENST00000680694.1:c.157C>T" ], "proteinEffect": { "hgvs": "ENSP00000505658.1:p.Arg53Cys", "hgvsWellDefined": "ENSP00000505658.1:p.Arg53Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS780309" }, { "coordinates": [ { "allele": "T", "end": 159, "referenceAllele": "C", "start": 158 } ], "gene": "http://reg.genome.network/gene/GN000089", "geneNCBI_id": 34, "geneSymbol": "ACADM", "hgvs": [ "ENST00000680743.1:c.69C>T" ], "proteinEffect": { "hgvs": "ENSP00000505073.1:p.Leu23=" }, "referenceSequence": "http://reg.genome.network/refseq/RS780358" }, { "coordinates": [ { "allele": "T", "end": 514, "referenceAllele": "C", "start": 513 } ], "gene": "http://reg.genome.network/gene/GN000089", "geneNCBI_id": 34, "geneSymbol": "ACADM", "hgvs": [ "ENST00000680749.1:c.157C>T" ], "proteinEffect": { "hgvs": "ENSP00000505122.1:p.Arg53Cys", "hgvsWellDefined": "ENSP00000505122.1:p.Arg53Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS780364" }, { "coordinates": [ { "allele": "T", "end": 514, "referenceAllele": "C", "start": 513 } ], "gene": "http://reg.genome.network/gene/GN000089", "geneNCBI_id": 34, "geneSymbol": "ACADM", "hgvs": [ "ENST00000680798.1:c.157C>T" ], "proteinEffect": { "hgvs": "ENSP00000505670.1:p.Arg53Cys", "hgvsWellDefined": "ENSP00000505670.1:p.Arg53Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS780413" }, { "coordinates": [ { "allele": "T", "end": 514, "referenceAllele": "C", "start": 513 } ], "gene": "http://reg.genome.network/gene/GN000089", "geneNCBI_id": 34, "geneSymbol": "ACADM", "hgvs": [ "ENST00000680805.1:c.157C>T" ], "proteinEffect": { "hgvs": "ENSP00000505447.1:p.Arg53Cys", "hgvsWellDefined": "ENSP00000505447.1:p.Arg53Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS780420" }, { "coordinates": [ { "allele": "T", "end": 148, "referenceAllele": "C", "start": 147 } ], "gene": "http://reg.genome.network/gene/GN000089", "geneNCBI_id": 34, "geneSymbol": "ACADM", "hgvs": [ "ENST00000680844.1:c.69C>T" ], "proteinEffect": { "hgvs": "ENSP00000506541.1:p.Leu23=" }, "referenceSequence": "http://reg.genome.network/refseq/RS780459" }, { "coordinates": [ { "allele": "T", "end": 154, "referenceAllele": "C", "start": 153 } ], "gene": "http://reg.genome.network/gene/GN000089", "geneNCBI_id": 34, "geneSymbol": "ACADM", "hgvs": [ "ENST00000680948.1:c.69C>T" ], "proteinEffect": { "hgvs": "ENSP00000505441.1:p.Leu23=" }, "referenceSequence": "http://reg.genome.network/refseq/RS780562" }, { "coordinates": [ { "allele": "T", "end": 514, "referenceAllele": "C", "start": 513 } ], "gene": "http://reg.genome.network/gene/GN000089", "geneNCBI_id": 34, "geneSymbol": "ACADM", "hgvs": [ "ENST00000680964.1:c.157C>T" ], "proteinEffect": { "hgvs": "ENSP00000505961.1:p.Arg53Cys", "hgvsWellDefined": "ENSP00000505961.1:p.Arg53Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS780578" }, { "coordinates": [ { "allele": "T", "end": 514, "referenceAllele": "C", "start": 513 } ], "gene": "http://reg.genome.network/gene/GN000089", "geneNCBI_id": 34, "geneSymbol": "ACADM", "hgvs": [ "ENST00000681037.1:c.157C>T" ], "proteinEffect": { "hgvs": "ENSP00000506025.1:p.Arg53Cys", "hgvsWellDefined": "ENSP00000506025.1:p.Arg53Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS780650" }, { "coordinates": [ { "allele": "T", "end": 514, "referenceAllele": "C", "start": 513 } ], "gene": "http://reg.genome.network/gene/GN000089", "geneNCBI_id": 34, "geneSymbol": "ACADM", "hgvs": [ "ENST00000681063.1:c.157C>T" ], "proteinEffect": { "hgvs": "ENSP00000506616.1:p.Arg53Cys", "hgvsWellDefined": "ENSP00000506616.1:p.Arg53Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS780676" }, { "coordinates": [ { "allele": "T", "end": 514, "referenceAllele": "C", "start": 513 } ], "gene": "http://reg.genome.network/gene/GN000089", "geneNCBI_id": 34, "geneSymbol": "ACADM", "hgvs": [ "ENST00000681209.1:c.157C>T" ], "proteinEffect": { "hgvs": "ENSP00000505877.1:p.Arg53Cys", "hgvsWellDefined": "ENSP00000505877.1:p.Arg53Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS780820" }, { "coordinates": [ { "allele": "T", "end": 514, "referenceAllele": "C", "start": 513 } ], "gene": "http://reg.genome.network/gene/GN000089", "geneNCBI_id": 34, "geneSymbol": "ACADM", "hgvs": [ "ENST00000681278.1:n.514C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS780889" }, { "coordinates": [ { "allele": "T", "end": 514, "referenceAllele": "C", "start": 513 } ], "gene": "http://reg.genome.network/gene/GN000089", "geneNCBI_id": 34, "geneSymbol": "ACADM", "hgvs": [ "ENST00000681289.1:n.514C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS780900" }, { "coordinates": [ { "allele": "T", "end": 259, "referenceAllele": "C", "start": 258 } ], "gene": "http://reg.genome.network/gene/GN000089", "geneNCBI_id": 34, "geneSymbol": "ACADM", "hgvs": [ "ENST00000681361.1:c.69C>T" ], "proteinEffect": { "hgvs": "ENSP00000506679.1:p.Leu23=" }, "referenceSequence": "http://reg.genome.network/refseq/RS780971" }, { "coordinates": [ { "allele": "T", "end": 514, "referenceAllele": "C", "start": 513 } ], "gene": "http://reg.genome.network/gene/GN000089", "geneNCBI_id": 34, "geneSymbol": "ACADM", "hgvs": [ "ENST00000681430.1:c.157C>T" ], "proteinEffect": { "hgvs": "ENSP00000506301.1:p.Arg53Cys", "hgvsWellDefined": "ENSP00000506301.1:p.Arg53Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS781037" }, { "coordinates": [ { "allele": "T", "end": 514, "referenceAllele": "C", "start": 513 } ], "gene": "http://reg.genome.network/gene/GN000089", "geneNCBI_id": 34, "geneSymbol": "ACADM", "hgvs": [ "ENST00000681446.1:c.157C>T" ], "proteinEffect": { "hgvs": "ENSP00000506244.1:p.Arg53Cys", "hgvsWellDefined": "ENSP00000506244.1:p.Arg53Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS781053" }, { "coordinates": [ { "allele": "T", "end": 96, "referenceAllele": "C", "start": 95 } ], "gene": "http://reg.genome.network/gene/GN000089", "geneNCBI_id": 34, "geneSymbol": "ACADM", "hgvs": [ "ENST00000681450.1:c.69C>T" ], "proteinEffect": { "hgvs": "ENSP00000505660.1:p.Leu23=" }, "referenceSequence": "http://reg.genome.network/refseq/RS781057" }, { "coordinates": [ { "allele": "T", "end": 99, "referenceAllele": "C", "start": 98 } ], "gene": "http://reg.genome.network/gene/GN000089", "geneNCBI_id": 34, "geneSymbol": "ACADM", "hgvs": [ "ENST00000681548.1:c.69C>T" ], "proteinEffect": { "hgvs": "ENSP00000505275.1:p.Leu23=" }, "referenceSequence": "http://reg.genome.network/refseq/RS781154" }, { "coordinates": [ { "allele": "T", "end": 158, "referenceAllele": "C", "start": 157 } ], "gene": "http://reg.genome.network/gene/GN000089", "geneNCBI_id": 34, "geneSymbol": "ACADM", "hgvs": [ "ENST00000681616.1:c.69C>T" ], "proteinEffect": { "hgvs": "ENSP00000505111.1:p.Leu23=" }, "referenceSequence": "http://reg.genome.network/refseq/RS781222" }, { "coordinates": [ { "allele": "T", "end": 514, "referenceAllele": "C", "start": 513 } ], "gene": "http://reg.genome.network/gene/GN000089", "geneNCBI_id": 34, "geneSymbol": "ACADM", "hgvs": [ "ENST00000681621.1:c.157C>T" ], "proteinEffect": { "hgvs": "ENSP00000505770.1:p.Arg53Cys", "hgvsWellDefined": "ENSP00000505770.1:p.Arg53Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS781227" }, { "coordinates": [ { "allele": "T", "end": 514, "referenceAllele": "C", "start": 513 } ], "gene": "http://reg.genome.network/gene/GN000089", "geneNCBI_id": 34, "geneSymbol": "ACADM", "hgvs": [ "ENST00000681680.1:n.514C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS781285" }, { "coordinates": [ { "allele": "T", "end": 129, "referenceAllele": "C", "start": 128 } ], "gene": "http://reg.genome.network/gene/GN000089", "geneNCBI_id": 34, "geneSymbol": "ACADM", "hgvs": [ "ENST00000681720.1:c.69C>T" ], "proteinEffect": { "hgvs": "ENSP00000505438.1:p.Leu23=" }, "referenceSequence": "http://reg.genome.network/refseq/RS781323" }, { "coordinates": [ { "allele": "T", "end": 379, "referenceAllele": "C", "start": 378 } ], "gene": "http://reg.genome.network/gene/GN000089", "geneNCBI_id": 34, "geneSymbol": "ACADM", "hgvs": [ "ENST00000681730.1:n.379C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS781333" }, { "coordinates": [ { "allele": "T", "end": 337, "referenceAllele": "C", "start": 336 } ], "gene": "http://reg.genome.network/gene/GN000089", "geneNCBI_id": 34, "geneSymbol": "ACADM", "hgvs": [ "ENST00000681790.1:c.-102C>T" ], "proteinEffect": { "hgvs": "ENSP00000505130.1:n.-102C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS781392" }, { "coordinates": [ { "allele": "T", "end": 168, "referenceAllele": "C", "start": 167 } ], "gene": "http://reg.genome.network/gene/GN000089", "geneNCBI_id": 34, "geneSymbol": "ACADM", "hgvs": [ "ENST00000681837.1:n.168C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS781439" }, { "coordinates": [ { "allele": "T", "end": 514, "referenceAllele": "C", "start": 513 } ], "gene": "http://reg.genome.network/gene/GN000089", "geneNCBI_id": 34, "geneSymbol": "ACADM", "hgvs": [ "ENST00000681913.1:n.514C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS781513" }, { "coordinates": [ { "allele": "T", "end": 154, "referenceAllele": "C", "start": 153 } ], "gene": "http://reg.genome.network/gene/GN000089", "geneNCBI_id": 34, "geneSymbol": "ACADM", "hgvs": [ "ENST00000681916.1:c.69C>T" ], "proteinEffect": { "hgvs": "ENSP00000506477.1:p.Leu23=" }, "referenceSequence": "http://reg.genome.network/refseq/RS781516" }, { "coordinates": [ { "allele": "T", "end": 514, "referenceAllele": "C", "start": 513 } ], "gene": "http://reg.genome.network/gene/GN000089", "geneNCBI_id": 34, "geneSymbol": "ACADM", "hgvs": [ "ENST00000681930.1:n.514C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS781529" }, { "coordinates": [ { "allele": "T", "end": 236, "referenceAllele": "C", "start": 235 } ], "gene": "http://reg.genome.network/gene/GN000089", "geneNCBI_id": 34, "geneSymbol": "ACADM", "hgvs": [ "ENST00000370834.9:c.157C>T" ], "proteinEffect": { "hgvs": "ENSP00000359871.5:p.Arg53Cys", "hgvsWellDefined": "ENSP00000359871.5:p.Arg53Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS268272" }, { "coordinates": [ { "allele": "T", "end": 594, "referenceAllele": "C", "start": 593 } ], "gene": "http://reg.genome.network/gene/GN000089", "geneNCBI_id": 34, "geneSymbol": "ACADM", "hgvs": [ "ENST00000370841.8:c.157C>T" ], "proteinEffect": { "hgvs": "ENSP00000359878.4:p.Arg53Cys", "hgvsWellDefined": "ENSP00000359878.4:p.Arg53Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS268275" }, { "coordinates": [ { "allele": "T", "end": 177, "referenceAllele": "C", "start": 176 } ], "gene": "http://reg.genome.network/gene/GN000089", "geneNCBI_id": 34, "geneSymbol": "ACADM", "hgvs": [ "ENST00000420607.6:c.169C>T" ], "proteinEffect": { "hgvs": "ENSP00000409612.2:p.Arg57Cys", "hgvsWellDefined": "ENSP00000409612.2:p.Arg57Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS286393" }, { "coordinates": [ { "allele": "T", "end": 190, "referenceAllele": "C", "start": 189 } ], "gene": "http://reg.genome.network/gene/GN000089", "geneNCBI_id": 34, "geneSymbol": "ACADM", "hgvs": [ "ENST00000473018.2:n.190C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS314860" }, { "coordinates": [ { "allele": "T", "end": 90, "referenceAllele": "C", "start": 89 } ], "gene": "http://reg.genome.network/gene/GN000089", "geneNCBI_id": 34, "geneSymbol": "ACADM", "hgvs": [ "ENST00000525808.5:c.69C>T" ], "proteinEffect": { "hgvs": "ENSP00000434823.1:p.Leu23=" }, "referenceSequence": "http://reg.genome.network/refseq/RS351775" }, { "coordinates": [ { "allele": "T", "end": 166, "referenceAllele": "C", "start": 165 } ], "gene": "http://reg.genome.network/gene/GN000089", "geneNCBI_id": 34, "geneSymbol": "ACADM", "hgvs": [ "ENST00000525881.5:n.166C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS351832" }, { "coordinates": [ { "allele": "T", "end": 239, "referenceAllele": "C", "start": 238 } ], "gene": "http://reg.genome.network/gene/GN000089", "geneNCBI_id": 34, "geneSymbol": "ACADM", "hgvs": [ "ENST00000526129.5:c.157C>T" ], "proteinEffect": { "hgvs": "ENSP00000434092.1:p.Arg53Cys", "hgvsWellDefined": "ENSP00000434092.1:p.Arg53Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS352042" }, { "coordinates": [ { "allele": "T", "end": 151, "referenceAllele": "C", "start": 150 } ], "gene": "http://reg.genome.network/gene/GN000089", "geneNCBI_id": 34, "geneSymbol": "ACADM", "hgvs": [ "ENST00000526196.5:c.69C>T" ], "proteinEffect": { "hgvs": "ENSP00000431953.1:p.Leu23=" }, "referenceSequence": "http://reg.genome.network/refseq/RS352100" }, { "coordinates": [ { "allele": "T", "end": 167, "referenceAllele": "C", "start": 166 } ], "gene": "http://reg.genome.network/gene/GN000089", "geneNCBI_id": 34, "geneSymbol": "ACADM", "hgvs": [ "ENST00000529059.5:n.167C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS354506" }, { "coordinates": [ { "allele": "T", "end": 145, "endIntronDirection": "+", "endIntronOffset": 4194, "referenceAllele": "C", "start": 145, "startIntronDirection": "+", "startIntronOffset": 4193 } ], "gene": "http://reg.genome.network/gene/GN000089", "geneNCBI_id": 34, "geneSymbol": "ACADM", "hgvs": [ "ENST00000530953.6:c.118+4194C>T" ], "proteinEffect": { "hgvs": "ENSP00000431372.1:n.118+4194C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS356126" }, { "coordinates": [ { "allele": "T", "end": 197, "endIntronDirection": "-", "endIntronOffset": 170, "referenceAllele": "C", "start": 197, "startIntronDirection": "-", "startIntronOffset": 171 } ], "gene": "http://reg.genome.network/gene/GN000089", "geneNCBI_id": 34, "geneSymbol": "ACADM", "hgvs": [ "ENST00000532509.5:c.119-171C>T" ], "proteinEffect": { "hgvs": "ENSP00000432522.1:n.119-171C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS357436" }, { "coordinates": [ { "allele": "T", "end": 236, "referenceAllele": "C", "start": 235 } ], "gene": "http://reg.genome.network/gene/GN000089", "geneNCBI_id": 34, "geneSymbol": "ACADM", "hgvs": [ "ENST00000534146.5:n.236C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS358800" }, { "coordinates": [ { "allele": "T", "end": 178, "referenceAllele": "C", "start": 177 } ], "gene": "http://reg.genome.network/gene/GN000089", "geneNCBI_id": 34, "geneSymbol": "ACADM", "hgvs": [ "ENST00000534334.5:c.157C>T" ], "proteinEffect": { "hgvs": "ENSP00000435584.1:p.Arg53Cys", "hgvsWellDefined": "ENSP00000435584.1:p.Arg53Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS358960" }, { "coordinates": [ { "allele": "T", "end": 510, "referenceAllele": "C", "start": 509 } ], "gene": "http://reg.genome.network/gene/GN000089", "geneNCBI_id": 34, "geneSymbol": "ACADM", "hgvs": [ "ENST00000541113.5:c.49C>T" ], "proteinEffect": { "hgvs": "ENSP00000442324.1:p.Arg17Cys", "hgvsWellDefined": "ENSP00000442324.1:p.Arg17Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS362767" }, { "@id": "http://reg.genome.network/allele/PA090988", "coordinates": [ { "allele": "T", "end": 598, "referenceAllele": "C", "start": 597 } ], "gene": "http://reg.genome.network/gene/GN000089", "geneNCBI_id": 34, "geneSymbol": "ACADM", "hgvs": [ "NM_000016.5:c.157C>T" ], "proteinEffect": { "hgvs": "NP_000007.1:p.Arg53Cys", "hgvsWellDefined": "NP_000007.1:p.Arg53Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS006081" }, { "@id": "http://reg.genome.network/allele/PA220174", "coordinates": [ { "allele": "T", "end": 610, "referenceAllele": "C", "start": 609 } ], "gene": "http://reg.genome.network/gene/GN000089", "geneNCBI_id": 34, "geneSymbol": "ACADM", "hgvs": [ "NM_001127328.2:c.169C>T" ], "proteinEffect": { "hgvs": "NP_001120800.1:p.Arg57Cys", "hgvsWellDefined": "NP_001120800.1:p.Arg57Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS011581" }, { "@id": "http://reg.genome.network/allele/PA2826699628", "coordinates": [ { "allele": "T", "end": 510, "referenceAllele": "C", "start": 509 } ], "gene": "http://reg.genome.network/gene/GN000089", "geneNCBI_id": 34, "geneSymbol": "ACADM", "hgvs": [ "NM_001286042.1:c.49C>T" ], "proteinEffect": { "hgvs": "NP_001272971.1:p.Arg17Cys", "hgvsWellDefined": "NP_001272971.1:p.Arg17Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS022702" }, { "@id": "http://reg.genome.network/allele/PA2826700534", "coordinates": [ { "allele": "T", "end": 598, "referenceAllele": "C", "start": 597 } ], "gene": "http://reg.genome.network/gene/GN000089", "geneNCBI_id": 34, "geneSymbol": "ACADM", "hgvs": [ "NM_001286043.1:c.157C>T" ], "proteinEffect": { "hgvs": "NP_001272972.1:p.Arg53Cys", "hgvsWellDefined": "NP_001272972.1:p.Arg53Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS022703" }, { "coordinates": [ { "allele": "T", "end": 510, "referenceAllele": "C", "start": 509 } ], "gene": "http://reg.genome.network/gene/GN000089", "geneNCBI_id": 34, "geneSymbol": "ACADM", "hgvs": [ "NM_001286044.1:c.-229C>T" ], "proteinEffect": { "hgvs": "NP_001272973.1:n.-229C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS022704" }, { "@id": "http://reg.genome.network/allele/PA090988", "coordinates": [ { "allele": "T", "end": 236, "referenceAllele": "C", "start": 235 } ], "gene": "http://reg.genome.network/gene/GN000089", "geneNCBI_id": 34, "geneSymbol": "ACADM", "hgvs": [ "NM_000016.6:c.157C>T" ], "proteinEffect": { "hgvs": "NP_000007.1:p.Arg53Cys", "hgvsWellDefined": "NP_000007.1:p.Arg53Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS674669", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000370841.9:c.157C>T" }, "RefSeq": { "hgvs": "NM_000016.6:c.157C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000359878.5:p.Arg53Cys" }, "RefSeq": { "hgvs": "NP_000007.1:p.Arg53Cys" } } } }, { "@id": "http://reg.genome.network/allele/PA220174", "coordinates": [ { "allele": "T", "end": 248, "referenceAllele": "C", "start": 247 } ], "gene": "http://reg.genome.network/gene/GN000089", "geneNCBI_id": 34, "geneSymbol": "ACADM", "hgvs": [ "NM_001127328.3:c.169C>T" ], "proteinEffect": { "hgvs": "NP_001120800.1:p.Arg57Cys", "hgvsWellDefined": "NP_001120800.1:p.Arg57Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS712205" }, { "@id": "http://reg.genome.network/allele/PA2826699628", "coordinates": [ { "allele": "T", "end": 148, "referenceAllele": "C", "start": 147 } ], "gene": "http://reg.genome.network/gene/GN000089", "geneNCBI_id": 34, "geneSymbol": "ACADM", "hgvs": [ "NM_001286042.2:c.49C>T" ], "proteinEffect": { "hgvs": "NP_001272971.1:p.Arg17Cys", "hgvsWellDefined": "NP_001272971.1:p.Arg17Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS716103" }, { "@id": "http://reg.genome.network/allele/PA2826700534", "coordinates": [ { "allele": "T", "end": 236, "referenceAllele": "C", "start": 235 } ], "gene": "http://reg.genome.network/gene/GN000089", "geneNCBI_id": 34, "geneSymbol": "ACADM", "hgvs": [ "NM_001286043.2:c.157C>T" ], "proteinEffect": { "hgvs": "NP_001272972.1:p.Arg53Cys", "hgvsWellDefined": "NP_001272972.1:p.Arg53Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS716104" }, { "coordinates": [ { "allele": "T", "end": 148, "referenceAllele": "C", "start": 147 } ], "gene": "http://reg.genome.network/gene/GN000089", "geneNCBI_id": 34, "geneSymbol": "ACADM", "hgvs": [ "NM_001286044.2:c.-229C>T" ], "proteinEffect": { "hgvs": "NP_001272973.1:n.-229C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS716105" } ], "type": "nucleotide" }