{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA018066", "communityStandardTitle": [ "NM_170707.4(LMNA):c.412G>A (p.Glu138Lys)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=77794[alleleid]", "alleleId": 77794, "preferredName": "NM_170707.4(LMNA):c.412G>A (p.Glu138Lys)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/66897", "RCV": [ "RCV000057401" ], "variationId": 66897 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.156100463G>A?assembly=hg19", "id": "chr1:g.156100463G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.156130672G>A?assembly=hg38", "id": "chr1:g.156130672G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/267607649", "rs": 267607649 } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 156130672, "referenceAllele": "G", "start": 156130671 } ], "hgvs": [ "NC_000001.11:g.156130672G>A", "CM000663.2:g.156130672G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 156100463, "referenceAllele": "G", "start": 156100462 } ], "hgvs": [ "NC_000001.10:g.156100463G>A", "CM000663.1:g.156100463G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 154367087, "referenceAllele": "G", "start": 154367086 } ], "hgvs": [ "NC_000001.9:g.154367087G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "A", "end": 53100, "referenceAllele": "G", "start": 53099 } ], "hgvs": [ "NG_008692.2:g.53100G>A", "LRG_254:g.53100G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001170" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 163, "referenceAllele": "G", "start": 162 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000504687.7:c.-147G>A" ], "proteinEffect": { "hgvs": "ENSP00000426535.3:n.-147G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS914182" }, { "coordinates": [ { "allele": "A", "end": 626, "referenceAllele": "G", "start": 625 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000682650.1:c.412G>A" ], "proteinEffect": { "hgvs": "ENSP00000506904.1:p.Glu138Lys", "hgvsWellDefined": "ENSP00000506904.1:p.Glu138Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS827639" }, { "coordinates": [ { "allele": "A", "end": 627, "referenceAllele": "G", "start": 626 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000683032.1:c.412G>A" ], "proteinEffect": { "hgvs": "ENSP00000506771.1:p.Glu138Lys", "hgvsWellDefined": "ENSP00000506771.1:p.Glu138Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS828019" }, { "coordinates": [ { "allele": "A", "end": 627, "referenceAllele": "G", "start": 626 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000684195.1:c.412G>A" ], "proteinEffect": { "hgvs": "ENSP00000508220.1:p.Glu138Lys", "hgvsWellDefined": "ENSP00000508220.1:p.Glu138Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS829153" }, { "coordinates": [ { "allele": "A", "end": 695, "referenceAllele": "G", "start": 694 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000361308.9:c.412G>A" ], "proteinEffect": { "hgvs": "ENSP00000355292.6:p.Glu138Lys", "hgvsWellDefined": "ENSP00000355292.6:p.Glu138Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS749441" }, { "coordinates": [ { "allele": "A", "end": 620, "referenceAllele": "G", "start": 619 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000368300.9:c.412G>A" ], "proteinEffect": { "hgvs": "ENSP00000357283.4:p.Glu138Lys", "hgvsWellDefined": "ENSP00000357283.4:p.Glu138Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS750181", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000368300.9:c.412G>A" }, "RefSeq": { "hgvs": "NM_170707.4:c.412G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000357283.4:p.Glu138Lys" }, "RefSeq": { "hgvs": "NP_733821.1:p.Glu138Lys" } } } }, { "coordinates": [ { "allele": "A", "end": 787, "referenceAllele": "G", "start": 786 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000496738.6:n.787G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS757845" }, { "coordinates": [ { "allele": "A", "end": 163, "referenceAllele": "G", "start": 162 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000504687.6:c.-253G>A" ], "proteinEffect": { "hgvs": "ENSP00000426535.2:n.-253G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS758023" }, { "coordinates": [ { "allele": "A", "end": 630, "referenceAllele": "G", "start": 629 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000674518.1:c.412G>A" ], "proteinEffect": { "hgvs": "ENSP00000502261.1:p.Glu138Lys", "hgvsWellDefined": "ENSP00000502261.1:p.Glu138Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS774474" }, { "coordinates": [ { "allele": "A", "end": 810, "referenceAllele": "G", "start": 809 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000674600.1:c.*211G>A" ], "proteinEffect": { "hgvs": "ENSP00000501666.1:n.*211G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS774544" }, { "coordinates": [ { "allele": "A", "end": 787, "referenceAllele": "G", "start": 786 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000674720.1:c.412G>A" ], "proteinEffect": { "hgvs": "ENSP00000502798.1:p.Glu138Lys", "hgvsWellDefined": "ENSP00000502798.1:p.Glu138Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS774644" }, { "coordinates": [ { "allele": "A", "end": 105, "referenceAllele": "G", "start": 104 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000675431.1:n.105G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS775256" }, { "coordinates": [ { "allele": "A", "end": 531, "referenceAllele": "G", "start": 530 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000675455.1:c.*212G>A" ], "proteinEffect": { "hgvs": "ENSP00000501795.1:n.*212G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS775275" }, { "coordinates": [ { "allele": "A", "end": 787, "referenceAllele": "G", "start": 786 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000675667.1:c.412G>A" ], "proteinEffect": { "hgvs": "ENSP00000501803.1:p.Glu138Lys", "hgvsWellDefined": "ENSP00000501803.1:p.Glu138Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS775456" }, { "coordinates": [ { "allele": "A", "end": 574, "endIntronDirection": "-", "endIntronOffset": 3730, "referenceAllele": "G", "start": 574, "startIntronDirection": "-", "startIntronOffset": 3731 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000675874.1:c.357-3731G>A" ], "proteinEffect": { "hgvs": "ENSP00000501851.1:n.357-3731G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS775638" }, { "coordinates": [ { "allele": "A", "end": 620, "referenceAllele": "G", "start": 619 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000675881.1:c.412G>A" ], "proteinEffect": { "hgvs": "ENSP00000501670.1:p.Glu138Lys", "hgvsWellDefined": "ENSP00000501670.1:p.Glu138Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS775644" }, { "coordinates": [ { "allele": "A", "end": 631, "referenceAllele": "G", "start": 630 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000675939.1:c.412G>A" ], "proteinEffect": { "hgvs": "ENSP00000502256.1:p.Glu138Lys", "hgvsWellDefined": "ENSP00000502256.1:p.Glu138Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS775693" }, { "coordinates": [ { "allele": "A", "end": 787, "referenceAllele": "G", "start": 786 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000675989.1:n.787G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS775733" }, { "coordinates": [ { "allele": "A", "end": 630, "referenceAllele": "G", "start": 629 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000676208.1:c.412G>A" ], "proteinEffect": { "hgvs": "ENSP00000502468.1:p.Glu138Lys", "hgvsWellDefined": "ENSP00000502468.1:p.Glu138Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS775924" }, { "coordinates": [ { "allele": "A", "end": 787, "referenceAllele": "G", "start": 786 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000676283.1:n.787G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS775987" }, { "coordinates": [ { "allele": "A", "end": 1253, "referenceAllele": "G", "start": 1252 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000676385.2:c.412G>A" ], "proteinEffect": { "hgvs": "ENSP00000502091.1:p.Glu138Lys", "hgvsWellDefined": "ENSP00000502091.1:p.Glu138Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS776075" }, { "coordinates": [ { "allele": "A", "end": 630, "referenceAllele": "G", "start": 629 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000676434.1:c.412G>A" ], "proteinEffect": { "hgvs": "ENSP00000501648.1:p.Glu138Lys", "hgvsWellDefined": "ENSP00000501648.1:p.Glu138Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS776116" }, { "coordinates": [ { "allele": "A", "end": 620, "referenceAllele": "G", "start": 619 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000677389.1:c.412G>A" ], "proteinEffect": { "hgvs": "ENSP00000503633.1:p.Glu138Lys", "hgvsWellDefined": "ENSP00000503633.1:p.Glu138Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS777051", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000677389.1:c.412G>A" }, "RefSeq": { "hgvs": "NM_005572.4:c.412G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000503633.1:p.Glu138Lys" }, "RefSeq": { "hgvs": "NP_005563.1:p.Glu138Lys" } } } }, { "coordinates": [ { "allele": "A", "end": 661, "referenceAllele": "G", "start": 660 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000347559.6:c.412G>A" ], "proteinEffect": { "hgvs": "ENSP00000292304.3:p.Glu138Lys", "hgvsWellDefined": "ENSP00000292304.3:p.Glu138Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS247316" }, { "coordinates": [ { "allele": "A", "end": 661, "referenceAllele": "G", "start": 660 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000361308.8:c.412G>A" ], "proteinEffect": { "hgvs": "ENSP00000355292.5:p.Glu138Lys", "hgvsWellDefined": "ENSP00000355292.5:p.Glu138Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS247226" }, { "coordinates": [ { "allele": "A", "end": 271, "referenceAllele": "G", "start": 270 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000368297.5:c.169G>A" ], "proteinEffect": { "hgvs": "ENSP00000357280.1:p.Glu57Lys", "hgvsWellDefined": "ENSP00000357280.1:p.Glu57Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS247394" }, { "coordinates": [ { "allele": "A", "end": 609, "referenceAllele": "G", "start": 608 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000368299.7:c.412G>A" ], "proteinEffect": { "hgvs": "ENSP00000357282.3:p.Glu138Lys", "hgvsWellDefined": "ENSP00000357282.3:p.Glu138Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS247280" }, { "coordinates": [ { "allele": "A", "end": 624, "referenceAllele": "G", "start": 623 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000368300.8:c.412G>A" ], "proteinEffect": { "hgvs": "ENSP00000357283.4:p.Glu138Lys", "hgvsWellDefined": "ENSP00000357283.4:p.Glu138Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS247209" }, { "coordinates": [ { "allele": "A", "end": 1053, "referenceAllele": "G", "start": 1052 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000368301.6:c.412G>A" ], "proteinEffect": { "hgvs": "ENSP00000357284.2:p.Glu138Lys", "hgvsWellDefined": "ENSP00000357284.2:p.Glu138Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS246645" }, { "coordinates": [ { "allele": "A", "end": 120, "referenceAllele": "G", "start": 119 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000448611.6:c.76G>A" ], "proteinEffect": { "hgvs": "ENSP00000395597.2:p.Glu26Lys", "hgvsWellDefined": "ENSP00000395597.2:p.Glu26Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS247357" }, { "coordinates": [ { "allele": "A", "end": 446, "referenceAllele": "G", "start": 445 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000469565.6:n.446G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS312219" }, { "coordinates": [ { "allele": "A", "end": 356, "endIntronDirection": "-", "endIntronOffset": 2, "referenceAllele": "G", "start": 356, "startIntronDirection": "-", "startIntronOffset": 3 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000470199.2:n.357-3G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS312697" }, { "coordinates": [ { "allele": "A", "end": 235, "referenceAllele": "G", "start": 234 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000473598.6:c.115G>A" ], "proteinEffect": { "hgvs": "ENSP00000421821.1:p.Glu39Lys", "hgvsWellDefined": "ENSP00000421821.1:p.Glu39Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS247207" }, { "coordinates": [ { "allele": "A", "end": 310, "referenceAllele": "G", "start": 309 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000502357.5:n.310G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS334941" }, { "coordinates": [ { "allele": "A", "end": 384, "referenceAllele": "G", "start": 383 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000502751.5:n.384G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS335240" }, { "coordinates": [ { "allele": "A", "end": 163, "referenceAllele": "G", "start": 162 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000504687.5:c.163G>A" ], "proteinEffect": { "hgvs": "ENSP00000426535.1:p.Glu55Lys", "hgvsWellDefined": "ENSP00000426535.1:p.Glu55Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS247175" }, { "coordinates": [ { "allele": "A", "end": 320, "referenceAllele": "G", "start": 319 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000515459.5:c.*86G>A" ], "proteinEffect": { "hgvs": "ENSP00000424518.1:n.*86G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS344685" }, { "@id": "http://reg.genome.network/allele/PA2826442729", "coordinates": [ { "allele": "A", "end": 163, "referenceAllele": "G", "start": 162 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "NM_001257374.2:c.76G>A" ], "proteinEffect": { "hgvs": "NP_001244303.1:p.Glu26Lys", "hgvsWellDefined": "NP_001244303.1:p.Glu26Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS019616" }, { "@id": "http://reg.genome.network/allele/PA916013539", "coordinates": [ { "allele": "A", "end": 343, "referenceAllele": "G", "start": 342 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "NM_001282624.1:c.169G>A" ], "proteinEffect": { "hgvs": "NP_001269553.1:p.Glu57Lys", "hgvsWellDefined": "NP_001269553.1:p.Glu57Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS022104" }, { "@id": "http://reg.genome.network/allele/PA2826658592", "coordinates": [ { "allele": "A", "end": 1085, "referenceAllele": "G", "start": 1084 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "NM_001282625.1:c.412G>A" ], "proteinEffect": { "hgvs": "NP_001269554.1:p.Glu138Lys", "hgvsWellDefined": "NP_001269554.1:p.Glu138Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS022105" }, { "@id": "http://reg.genome.network/allele/PA2826659852", "coordinates": [ { "allele": "A", "end": 661, "referenceAllele": "G", "start": 660 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "NM_001282626.1:c.412G>A" ], "proteinEffect": { "hgvs": "NP_001269555.1:p.Glu138Lys", "hgvsWellDefined": "NP_001269555.1:p.Glu138Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS022106" }, { "@id": "http://reg.genome.network/allele/PA218262", "coordinates": [ { "allele": "A", "end": 661, "referenceAllele": "G", "start": 660 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "NM_005572.3:c.412G>A", "LRG_254t1:c.412G>A" ], "proteinEffect": { "hgvs": "NP_005563.1:p.Glu138Lys", "hgvsWellDefined": "NP_005563.1:p.Glu138Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS030662" }, { "@id": "http://reg.genome.network/allele/PA103865", "coordinates": [ { "allele": "A", "end": 661, "referenceAllele": "G", "start": 660 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "NM_170707.3:c.412G>A" ], "proteinEffect": { "hgvs": "NP_733821.1:p.Glu138Lys", "hgvsWellDefined": "NP_733821.1:p.Glu138Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS042563" }, { "@id": "http://reg.genome.network/allele/PA218263", "coordinates": [ { "allele": "A", "end": 661, "referenceAllele": "G", "start": 660 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "NM_170708.3:c.412G>A" ], "proteinEffect": { "hgvs": "NP_733822.1:p.Glu138Lys", "hgvsWellDefined": "NP_733822.1:p.Glu138Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS042564" }, { "coordinates": [ { "allele": "A", "end": 158, "referenceAllele": "G", "start": 157 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "XM_011509533.1:c.76G>A" ], "proteinEffect": { "hgvs": "XP_011507835.1:p.Glu26Lys", "hgvsWellDefined": "XP_011507835.1:p.Glu26Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS076800" }, { "coordinates": [ { "allele": "A", "end": 56, "referenceAllele": "G", "start": 55 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "XM_011509534.1:c.-253G>A" ], "proteinEffect": { "hgvs": "XP_011507836.1:n.-253G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS076801" }, { "coordinates": [ { "allele": "A", "end": 661, "referenceAllele": "G", "start": 660 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "XR_921781.1:n.661G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS118967" }, { "coordinates": [ { "allele": "A", "end": 158, "referenceAllele": "G", "start": 157 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "XM_011509534.2:c.-253G>A" ], "proteinEffect": { "hgvs": "XP_011507836.1:n.-253G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS541310" }, { "coordinates": [ { "allele": "A", "end": 659, "referenceAllele": "G", "start": 658 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "XR_921781.2:n.659G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS606864" }, { "@id": "http://reg.genome.network/allele/PA103865", "coordinates": [ { "allele": "A", "end": 620, "referenceAllele": "G", "start": 619 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "NM_170707.4:c.412G>A" ], "proteinEffect": { "hgvs": "NP_733821.1:p.Glu138Lys", "hgvsWellDefined": "NP_733821.1:p.Glu138Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS672588", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000368300.9:c.412G>A" }, "RefSeq": { "hgvs": "NM_170707.4:c.412G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000357283.4:p.Glu138Lys" }, "RefSeq": { "hgvs": "NP_733821.1:p.Glu138Lys" } } } }, { "@id": "http://reg.genome.network/allele/PA2826442729", "coordinates": [ { "allele": "A", "end": 110, "referenceAllele": "G", "start": 109 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "NM_001257374.3:c.76G>A" ], "proteinEffect": { "hgvs": "NP_001244303.1:p.Glu26Lys", "hgvsWellDefined": "NP_001244303.1:p.Glu26Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS680726" }, { "@id": "http://reg.genome.network/allele/PA2826659852", "coordinates": [ { "allele": "A", "end": 620, "referenceAllele": "G", "start": 619 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "NM_001282626.2:c.412G>A" ], "proteinEffect": { "hgvs": "NP_001269555.1:p.Glu138Lys", "hgvsWellDefined": "NP_001269555.1:p.Glu138Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS681840" }, { "@id": "http://reg.genome.network/allele/PA916013539", "coordinates": [ { "allele": "A", "end": 290, "referenceAllele": "G", "start": 289 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "NM_001282624.2:c.169G>A" ], "proteinEffect": { "hgvs": "NP_001269553.1:p.Glu57Lys", "hgvsWellDefined": "NP_001269553.1:p.Glu57Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS715878" }, { "@id": "http://reg.genome.network/allele/PA2826658592", "coordinates": [ { "allele": "A", "end": 1058, "referenceAllele": "G", "start": 1057 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "NM_001282625.2:c.412G>A" ], "proteinEffect": { "hgvs": "NP_001269554.1:p.Glu138Lys", "hgvsWellDefined": "NP_001269554.1:p.Glu138Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS715879" }, { "@id": "http://reg.genome.network/allele/PA218262", "coordinates": [ { "allele": "A", "end": 620, "referenceAllele": "G", "start": 619 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "NM_005572.4:c.412G>A" ], "proteinEffect": { "hgvs": "NP_005563.1:p.Glu138Lys", "hgvsWellDefined": "NP_005563.1:p.Glu138Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS727649", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000677389.1:c.412G>A" }, "RefSeq": { "hgvs": "NM_005572.4:c.412G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000503633.1:p.Glu138Lys" }, "RefSeq": { "hgvs": "NP_005563.1:p.Glu138Lys" } } } }, { "@id": "http://reg.genome.network/allele/PA218263", "coordinates": [ { "allele": "A", "end": 620, "referenceAllele": "G", "start": 619 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "NM_170708.4:c.412G>A" ], "proteinEffect": { "hgvs": "NP_733822.1:p.Glu138Lys", "hgvsWellDefined": "NP_733822.1:p.Glu138Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS729502" } ], "type": "nucleotide" }