{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA397724999", "communityStandardTitle": [ "NM_000018.4(ACADVL):c.1384G>A (p.Glu462Lys)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=982127[alleleid]", "alleleId": 982127, "preferredName": "NM_000018.4(ACADVL):c.1384G>A (p.Glu462Lys)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/994035", "RCV": [ "RCV001286682" ], "variationId": 994035 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.7127338G>A?assembly=hg19", "id": "chr17:g.7127338G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.7224019G>A?assembly=hg38", "id": "chr17:g.7224019G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2071355499", "rs": 2071355499 } ] }, "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 7224019, "referenceAllele": "G", "start": 7224018 } ], "hgvs": [ "NC_000017.11:g.7224019G>A", "CM000679.2:g.7224019G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 7127338, "referenceAllele": "G", "start": 7127337 } ], "hgvs": [ "NC_000017.10:g.7127338G>A", "CM000679.1:g.7127338G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 7068062, "referenceAllele": "G", "start": 7068061 } ], "hgvs": [ "NC_000017.9:g.7068062G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "A", "end": 9186, "referenceAllele": "G", "start": 9185 } ], "hgvs": [ "NG_007975.1:g.9186G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000743" }, { "coordinates": [ { "allele": "T", "end": 1032, "referenceAllele": "C", "start": 1031 } ], "hgvs": [ "NG_008391.2:g.1032C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001073" }, { "coordinates": [ { "allele": "T", "end": 15526, "referenceAllele": "C", "start": 15525 } ], "hgvs": [ "NG_033038.1:g.15526C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS005371" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1431, "referenceAllele": "G", "start": 1430 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "ENST00000356839.10:c.1384G>A" ], "proteinEffect": { "hgvs": "ENSP00000349297.5:p.Glu462Lys", "hgvsWellDefined": "ENSP00000349297.5:p.Glu462Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS748851", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000356839.10:c.1384G>A" }, "RefSeq": { "hgvs": "NM_000018.4:c.1384G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000349297.5:p.Glu462Lys" }, "RefSeq": { "hgvs": "NP_000009.1:p.Glu462Lys" } } } }, { "coordinates": [ { "allele": "A", "end": 1600, "referenceAllele": "G", "start": 1599 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "ENST00000322910.9:c.*1339G>A" ], "proteinEffect": { "hgvs": "ENSP00000325395.5:n.*1339G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS258139" }, { "coordinates": [ { "allele": "A", "end": 1440, "referenceAllele": "G", "start": 1439 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "ENST00000350303.9:c.1318G>A" ], "proteinEffect": { "hgvs": "ENSP00000344152.5:p.Glu440Lys", "hgvsWellDefined": "ENSP00000344152.5:p.Glu440Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS262675" }, { "coordinates": [ { "allele": "A", "end": 1563, "referenceAllele": "G", "start": 1562 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "ENST00000356839.9:c.1384G>A" ], "proteinEffect": { "hgvs": "ENSP00000349297.5:p.Glu462Lys", "hgvsWellDefined": "ENSP00000349297.5:p.Glu462Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS263893" }, { "coordinates": [ { "allele": "A", "end": 242, "referenceAllele": "G", "start": 241 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "ENST00000542255.6:c.242G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS363352" }, { "coordinates": [ { "allele": "A", "end": 1474, "referenceAllele": "G", "start": 1473 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "ENST00000543245.6:c.1453G>A" ], "proteinEffect": { "hgvs": "ENSP00000438689.2:p.Glu485Lys", "hgvsWellDefined": "ENSP00000438689.2:p.Glu485Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS363908" }, { "coordinates": [ { "allele": "A", "end": 515, "referenceAllele": "G", "start": 514 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "ENST00000578711.1:n.515G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS385498" }, { "coordinates": [ { "allele": "A", "end": 500, "referenceAllele": "G", "start": 499 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "ENST00000579425.5:n.500G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS385843" }, { "coordinates": [ { "allele": "A", "end": 221, "referenceAllele": "G", "start": 220 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "ENST00000579546.1:c.221G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS385898" }, { "coordinates": [ { "allele": "A", "end": 95, "referenceAllele": "G", "start": 94 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "ENST00000579894.5:n.95G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS386057" }, { "coordinates": [ { "allele": "A", "end": 103, "referenceAllele": "G", "start": 102 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "ENST00000583074.5:n.103G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS387573" }, { "coordinates": [ { "allele": "A", "end": 159, "referenceAllele": "G", "start": 158 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "ENST00000583850.5:n.159G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS387949" }, { "coordinates": [ { "allele": "A", "end": 413, "referenceAllele": "G", "start": 412 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "ENST00000583858.5:c.413G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS387950" }, { "coordinates": [ { "allele": "A", "end": 575, "referenceAllele": "G", "start": 574 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "ENST00000585203.6:n.575G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS388591" }, { "@id": "http://reg.genome.network/allele/PA2825004124", "coordinates": [ { "allele": "A", "end": 1538, "referenceAllele": "G", "start": 1537 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "NM_000018.3:c.1384G>A" ], "proteinEffect": { "hgvs": "NP_000009.1:p.Glu462Lys", "hgvsWellDefined": "NP_000009.1:p.Glu462Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS006083" }, { "@id": "http://reg.genome.network/allele/PA2825374793", "coordinates": [ { "allele": "A", "end": 1472, "referenceAllele": "G", "start": 1471 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "NM_001033859.2:c.1318G>A" ], "proteinEffect": { "hgvs": "NP_001029031.1:p.Glu440Lys", "hgvsWellDefined": "NP_001029031.1:p.Glu440Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS009170" }, { "@id": "http://reg.genome.network/allele/PA1139691791", "coordinates": [ { "allele": "A", "end": 1474, "referenceAllele": "G", "start": 1473 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "NM_001270447.1:c.1453G>A" ], "proteinEffect": { "hgvs": "NP_001257376.1:p.Glu485Lys", "hgvsWellDefined": "NP_001257376.1:p.Glu485Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS020295" }, { "@id": "http://reg.genome.network/allele/PA2826516561", "coordinates": [ { "allele": "A", "end": 1613, "referenceAllele": "G", "start": 1612 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "NM_001270448.1:c.1156G>A" ], "proteinEffect": { "hgvs": "NP_001257377.1:p.Glu386Lys", "hgvsWellDefined": "NP_001257377.1:p.Glu386Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS020296" }, { "coordinates": [ { "allele": "A", "end": 1491, "referenceAllele": "G", "start": 1490 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "XM_006721516.2:c.1384G>A" ], "proteinEffect": { "hgvs": "XP_006721579.2:p.Glu462Lys", "hgvsWellDefined": "XP_006721579.2:p.Glu462Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS074100" }, { "coordinates": [ { "allele": "A", "end": 1491, "referenceAllele": "G", "start": 1490 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "XM_011523829.1:c.1384G>A" ], "proteinEffect": { "hgvs": "XP_011522131.1:p.Glu462Lys", "hgvsWellDefined": "XP_011522131.1:p.Glu462Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS090962" }, { "coordinates": [ { "allele": "A", "end": 1491, "referenceAllele": "G", "start": 1490 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "XM_011523830.1:c.1384G>A" ], "proteinEffect": { "hgvs": "XP_011522132.1:p.Glu462Lys", "hgvsWellDefined": "XP_011522132.1:p.Glu462Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS090963" }, { "coordinates": [ { "allele": "A", "end": 1491, "referenceAllele": "G", "start": 1490 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "XR_934021.1:n.1491G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS129466" }, { "coordinates": [ { "allele": "A", "end": 1491, "referenceAllele": "G", "start": 1490 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "XR_934022.1:n.1491G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS129467" }, { "coordinates": [ { "allele": "A", "end": 1491, "referenceAllele": "G", "start": 1490 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "XR_934023.1:n.1491G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS129468" }, { "coordinates": [ { "allele": "A", "end": 1443, "referenceAllele": "G", "start": 1442 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "XM_006721516.3:c.1384G>A" ], "proteinEffect": { "hgvs": "XP_006721579.2:p.Glu462Lys", "hgvsWellDefined": "XP_006721579.2:p.Glu462Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS540308" }, { "coordinates": [ { "allele": "A", "end": 1443, "referenceAllele": "G", "start": 1442 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "XM_011523829.2:c.1384G>A" ], "proteinEffect": { "hgvs": "XP_011522131.1:p.Glu462Lys", "hgvsWellDefined": "XP_011522131.1:p.Glu462Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS547194" }, { "coordinates": [ { "allele": "A", "end": 1443, "referenceAllele": "G", "start": 1442 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "XM_011523830.2:c.1384G>A" ], "proteinEffect": { "hgvs": "XP_011522132.1:p.Glu462Lys", "hgvsWellDefined": "XP_011522132.1:p.Glu462Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS547195" }, { "coordinates": [ { "allele": "A", "end": 1443, "referenceAllele": "G", "start": 1442 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "XM_024450741.1:c.1384G>A" ], "proteinEffect": { "hgvs": "XP_024306509.1:p.Glu462Lys", "hgvsWellDefined": "XP_024306509.1:p.Glu462Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS584272" }, { "coordinates": [ { "allele": "A", "end": 1443, "referenceAllele": "G", "start": 1442 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "XR_934021.2:n.1443G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS610564" }, { "coordinates": [ { "allele": "A", "end": 1443, "referenceAllele": "G", "start": 1442 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "XR_934022.2:n.1443G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS610565" }, { "coordinates": [ { "allele": "A", "end": 1443, "referenceAllele": "G", "start": 1442 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "XR_934023.2:n.1443G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS610566" }, { "@id": "http://reg.genome.network/allele/PA2825004124", "coordinates": [ { "allele": "A", "end": 1431, "referenceAllele": "G", "start": 1430 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "NM_000018.4:c.1384G>A" ], "proteinEffect": { "hgvs": "NP_000009.1:p.Glu462Lys", "hgvsWellDefined": "NP_000009.1:p.Glu462Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS662284", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000356839.10:c.1384G>A" }, "RefSeq": { "hgvs": "NM_000018.4:c.1384G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000349297.5:p.Glu462Lys" }, "RefSeq": { "hgvs": "NP_000009.1:p.Glu462Lys" } } } }, { "@id": "http://reg.genome.network/allele/PA2825374793", "coordinates": [ { "allele": "A", "end": 1365, "referenceAllele": "G", "start": 1364 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "NM_001033859.3:c.1318G>A" ], "proteinEffect": { "hgvs": "NP_001029031.1:p.Glu440Lys", "hgvsWellDefined": "NP_001029031.1:p.Glu440Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS711542" }, { "@id": "http://reg.genome.network/allele/PA1139691791", "coordinates": [ { "allele": "A", "end": 1474, "referenceAllele": "G", "start": 1473 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "NM_001270447.2:c.1453G>A" ], "proteinEffect": { "hgvs": "NP_001257376.1:p.Glu485Lys", "hgvsWellDefined": "NP_001257376.1:p.Glu485Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS715163" }, { "@id": "http://reg.genome.network/allele/PA2826516561", "coordinates": [ { "allele": "A", "end": 1506, "referenceAllele": "G", "start": 1505 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "NM_001270448.2:c.1156G>A" ], "proteinEffect": { "hgvs": "NP_001257377.1:p.Glu386Lys", "hgvsWellDefined": "NP_001257377.1:p.Glu386Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS715164" } ], "type": "nucleotide" }