{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA129845", "communityStandardTitle": [ "NM_001366385.1(CARD14):c.424G>A (p.Glu142Lys)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=40294[alleleid]", "alleleId": 40294, "preferredName": "NM_001366385.1(CARD14):c.424G>A (p.Glu142Lys)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/31610", "RCV": [ "RCV000024314", "RCV000059700" ], "variationId": 31610 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.78157786G>A?assembly=hg19", "id": "chr17:g.78157786G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.80183987G>A?assembly=hg38", "id": "chr17:g.80183987G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/281875212", "rs": 281875212 } ] }, "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 80183987, "referenceAllele": "G", "start": 80183986 } ], "hgvs": [ "NC_000017.11:g.80183987G>A", "CM000679.2:g.80183987G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 78157786, "referenceAllele": "G", "start": 78157785 } ], "hgvs": [ "NC_000017.10:g.78157786G>A", "CM000679.1:g.78157786G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 75772381, "referenceAllele": "G", "start": 75772380 } ], "hgvs": [ "NC_000017.9:g.75772381G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "A", "end": 18996, "referenceAllele": "G", "start": 18995 } ], "hgvs": [ "NG_032778.1:g.18996G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS005215" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1155, "referenceAllele": "G", "start": 1154 } ], "gene": "http://reg.genome.network/gene/GN016446", "geneNCBI_id": 79092, "geneSymbol": "CARD14", "hgvs": [ "ENST00000571427.2:c.424G>A" ], "proteinEffect": { "hgvs": "ENSP00000516501.1:p.Glu142Lys", "hgvsWellDefined": "ENSP00000516501.1:p.Glu142Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS905978" }, { "coordinates": [ { "allele": "A", "end": 855, "referenceAllele": "G", "start": 854 } ], "gene": "http://reg.genome.network/gene/GN016446", "geneNCBI_id": 79092, "geneSymbol": "CARD14", "hgvs": [ "ENST00000703566.1:c.424G>A" ], "proteinEffect": { "hgvs": "ENSP00000515382.1:p.Glu142Lys", "hgvsWellDefined": "ENSP00000515382.1:p.Glu142Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS911804" }, { "coordinates": [ { "allele": "A", "end": 837, "referenceAllele": "G", "start": 836 } ], "gene": "http://reg.genome.network/gene/GN016446", "geneNCBI_id": 79092, "geneSymbol": "CARD14", "hgvs": [ "ENST00000703567.1:c.424G>A" ], "proteinEffect": { "hgvs": "ENSP00000515383.1:p.Glu142Lys", "hgvsWellDefined": "ENSP00000515383.1:p.Glu142Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS911805" }, { "coordinates": [ { "allele": "A", "end": 615, "referenceAllele": "G", "start": 614 } ], "gene": "http://reg.genome.network/gene/GN016446", "geneNCBI_id": 79092, "geneSymbol": "CARD14", "hgvs": [ "ENST00000703568.1:c.424G>A" ], "proteinEffect": { "hgvs": "ENSP00000515384.1:p.Glu142Lys", "hgvsWellDefined": "ENSP00000515384.1:p.Glu142Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS911806" }, { "coordinates": [ { "allele": "A", "end": 625, "referenceAllele": "G", "start": 624 } ], "gene": "http://reg.genome.network/gene/GN016446", "geneNCBI_id": 79092, "geneSymbol": "CARD14", "hgvs": [ "ENST00000703569.1:n.625G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS911807" }, { "coordinates": [ { "allele": "A", "end": 1140, "referenceAllele": "G", "start": 1139 } ], "gene": "http://reg.genome.network/gene/GN016446", "geneNCBI_id": 79092, "geneSymbol": "CARD14", "hgvs": [ "ENST00000648509.2:c.424G>A" ], "proteinEffect": { "hgvs": "ENSP00000498071.1:p.Glu142Lys", "hgvsWellDefined": "ENSP00000498071.1:p.Glu142Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS770023", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000648509.2:c.424G>A" }, "RefSeq": { "hgvs": "NM_001366385.1:c.424G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000498071.1:p.Glu142Lys" }, "RefSeq": { "hgvs": "NP_001353314.1:p.Glu142Lys" } } } }, { "coordinates": [ { "allele": "A", "end": 666, "referenceAllele": "G", "start": 665 } ], "gene": "http://reg.genome.network/gene/GN016446", "geneNCBI_id": 79092, "geneSymbol": "CARD14", "hgvs": [ "ENST00000650806.1:n.666G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS771319" }, { "coordinates": [ { "allele": "A", "end": 855, "referenceAllele": "G", "start": 854 } ], "gene": "http://reg.genome.network/gene/GN016446", "geneNCBI_id": 79092, "geneSymbol": "CARD14", "hgvs": [ "ENST00000650867.1:c.424G>A" ], "proteinEffect": { "hgvs": "ENSP00000498570.1:p.Glu142Lys", "hgvsWellDefined": "ENSP00000498570.1:p.Glu142Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS771360" }, { "coordinates": [ { "allele": "A", "end": 607, "referenceAllele": "G", "start": 606 } ], "gene": "http://reg.genome.network/gene/GN016446", "geneNCBI_id": 79092, "geneSymbol": "CARD14", "hgvs": [ "ENST00000651068.1:c.424G>A" ], "proteinEffect": { "hgvs": "ENSP00000498274.1:p.Glu142Lys", "hgvsWellDefined": "ENSP00000498274.1:p.Glu142Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS771452" }, { "coordinates": [ { "allele": "A", "end": 662, "referenceAllele": "G", "start": 661 } ], "gene": "http://reg.genome.network/gene/GN016446", "geneNCBI_id": 79092, "geneSymbol": "CARD14", "hgvs": [ "ENST00000651388.1:c.424G>A" ], "proteinEffect": { "hgvs": "ENSP00000498956.1:p.Glu142Lys", "hgvsWellDefined": "ENSP00000498956.1:p.Glu142Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS771642" }, { "coordinates": [ { "allele": "A", "end": 872, "referenceAllele": "G", "start": 871 } ], "gene": "http://reg.genome.network/gene/GN016446", "geneNCBI_id": 79092, "geneSymbol": "CARD14", "hgvs": [ "ENST00000651672.1:c.424G>A" ], "proteinEffect": { "hgvs": "ENSP00000499145.1:p.Glu142Lys", "hgvsWellDefined": "ENSP00000499145.1:p.Glu142Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS771798" }, { "coordinates": [ { "allele": "A", "end": 860, "referenceAllele": "G", "start": 859 } ], "gene": "http://reg.genome.network/gene/GN016446", "geneNCBI_id": 79092, "geneSymbol": "CARD14", "hgvs": [ "ENST00000652599.1:n.860G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS772302" }, { "coordinates": [ { "allele": "A", "end": 592, "referenceAllele": "G", "start": 591 } ], "gene": "http://reg.genome.network/gene/GN016446", "geneNCBI_id": 79092, "geneSymbol": "CARD14", "hgvs": [ "ENST00000344227.6:c.424G>A" ], "proteinEffect": { "hgvs": "ENSP00000344549.2:p.Glu142Lys", "hgvsWellDefined": "ENSP00000344549.2:p.Glu142Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS261924" }, { "coordinates": [ { "allele": "A", "end": 601, "referenceAllele": "G", "start": 600 } ], "gene": "http://reg.genome.network/gene/GN016446", "geneNCBI_id": 79092, "geneSymbol": "CARD14", "hgvs": [ "ENST00000570421.5:c.424G>A" ], "proteinEffect": { "hgvs": "ENSP00000461806.1:p.Glu142Lys", "hgvsWellDefined": "ENSP00000461806.1:p.Glu142Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS382086" }, { "coordinates": [ { "allele": "A", "end": 960, "referenceAllele": "G", "start": 959 } ], "gene": "http://reg.genome.network/gene/GN016446", "geneNCBI_id": 79092, "geneSymbol": "CARD14", "hgvs": [ "ENST00000573882.5:c.424G>A" ], "proteinEffect": { "hgvs": "ENSP00000458715.1:p.Glu142Lys", "hgvsWellDefined": "ENSP00000458715.1:p.Glu142Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS383468" }, { "coordinates": [ { "allele": "A", "end": 615, "referenceAllele": "G", "start": 614 } ], "gene": "http://reg.genome.network/gene/GN016446", "geneNCBI_id": 79092, "geneSymbol": "CARD14", "hgvs": [ "ENST00000575500.5:c.424G>A" ], "proteinEffect": { "hgvs": "ENSP00000460883.1:p.Glu142Lys", "hgvsWellDefined": "ENSP00000460883.1:p.Glu142Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS384145" }, { "@id": "http://reg.genome.network/allele/PA2826448368", "coordinates": [ { "allele": "A", "end": 592, "referenceAllele": "G", "start": 591 } ], "gene": "http://reg.genome.network/gene/GN016446", "geneNCBI_id": 79092, "geneSymbol": "CARD14", "hgvs": [ "NM_001257970.1:c.424G>A" ], "proteinEffect": { "hgvs": "NP_001244899.1:p.Glu142Lys", "hgvsWellDefined": "NP_001244899.1:p.Glu142Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS019653" }, { "@id": "http://reg.genome.network/allele/PA113173", "coordinates": [ { "allele": "A", "end": 592, "referenceAllele": "G", "start": 591 } ], "gene": "http://reg.genome.network/gene/GN016446", "geneNCBI_id": 79092, "geneSymbol": "CARD14", "hgvs": [ "NM_024110.4:c.424G>A" ], "proteinEffect": { "hgvs": "NP_077015.2:p.Glu142Lys", "hgvsWellDefined": "NP_077015.2:p.Glu142Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS037692" }, { "coordinates": [ { "allele": "A", "end": 657, "referenceAllele": "G", "start": 656 } ], "gene": "http://reg.genome.network/gene/GN016446", "geneNCBI_id": 79092, "geneSymbol": "CARD14", "hgvs": [ "NR_047566.1:n.657G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS052005" }, { "coordinates": [ { "allele": "A", "end": 1113, "referenceAllele": "G", "start": 1112 } ], "gene": "http://reg.genome.network/gene/GN016446", "geneNCBI_id": 79092, "geneSymbol": "CARD14", "hgvs": [ "XM_011525212.1:c.424G>A" ], "proteinEffect": { "hgvs": "XP_011523514.1:p.Glu142Lys", "hgvsWellDefined": "XP_011523514.1:p.Glu142Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS092331" }, { "coordinates": [ { "allele": "A", "end": 855, "referenceAllele": "G", "start": 854 } ], "gene": "http://reg.genome.network/gene/GN016446", "geneNCBI_id": 79092, "geneSymbol": "CARD14", "hgvs": [ "XM_011525213.1:c.424G>A" ], "proteinEffect": { "hgvs": "XP_011523515.1:p.Glu142Lys", "hgvsWellDefined": "XP_011523515.1:p.Glu142Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS092332" }, { "coordinates": [ { "allele": "A", "end": 795, "referenceAllele": "G", "start": 794 } ], "gene": "http://reg.genome.network/gene/GN016446", "geneNCBI_id": 79092, "geneSymbol": "CARD14", "hgvs": [ "XM_011525214.1:c.424G>A" ], "proteinEffect": { "hgvs": "XP_011523516.1:p.Glu142Lys", "hgvsWellDefined": "XP_011523516.1:p.Glu142Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS092333" }, { "coordinates": [ { "allele": "A", "end": 915, "referenceAllele": "G", "start": 914 } ], "gene": "http://reg.genome.network/gene/GN016446", "geneNCBI_id": 79092, "geneSymbol": "CARD14", "hgvs": [ "XM_011525215.1:c.424G>A" ], "proteinEffect": { "hgvs": "XP_011523517.1:p.Glu142Lys", "hgvsWellDefined": "XP_011523517.1:p.Glu142Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS092334" }, { "coordinates": [ { "allele": "A", "end": 615, "referenceAllele": "G", "start": 614 } ], "gene": "http://reg.genome.network/gene/GN016446", "geneNCBI_id": 79092, "geneSymbol": "CARD14", "hgvs": [ "XM_011525216.1:c.424G>A" ], "proteinEffect": { "hgvs": "XP_011523518.1:p.Glu142Lys", "hgvsWellDefined": "XP_011523518.1:p.Glu142Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS092335" }, { "coordinates": [ { "allele": "A", "end": 671, "referenceAllele": "G", "start": 670 } ], "gene": "http://reg.genome.network/gene/GN016446", "geneNCBI_id": 79092, "geneSymbol": "CARD14", "hgvs": [ "XM_011525217.1:c.424G>A" ], "proteinEffect": { "hgvs": "XP_011523519.1:p.Glu142Lys", "hgvsWellDefined": "XP_011523519.1:p.Glu142Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS092336" }, { "coordinates": [ { "allele": "A", "end": 628, "referenceAllele": "G", "start": 627 } ], "gene": "http://reg.genome.network/gene/GN016446", "geneNCBI_id": 79092, "geneSymbol": "CARD14", "hgvs": [ "XM_011525218.1:c.424G>A" ], "proteinEffect": { "hgvs": "XP_011523520.1:p.Glu142Lys", "hgvsWellDefined": "XP_011523520.1:p.Glu142Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS092337" }, { "coordinates": [ { "allele": "A", "end": 564, "referenceAllele": "G", "start": 563 } ], "gene": "http://reg.genome.network/gene/GN016446", "geneNCBI_id": 79092, "geneSymbol": "CARD14", "hgvs": [ "XM_011525219.1:c.424G>A" ], "proteinEffect": { "hgvs": "XP_011523521.1:p.Glu142Lys", "hgvsWellDefined": "XP_011523521.1:p.Glu142Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS092338" }, { "coordinates": [ { "allele": "A", "end": 564, "referenceAllele": "G", "start": 563 } ], "gene": "http://reg.genome.network/gene/GN016446", "geneNCBI_id": 79092, "geneSymbol": "CARD14", "hgvs": [ "XM_011525220.1:c.424G>A" ], "proteinEffect": { "hgvs": "XP_011523522.1:p.Glu142Lys", "hgvsWellDefined": "XP_011523522.1:p.Glu142Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS092339" }, { "coordinates": [ { "allele": "A", "end": 564, "referenceAllele": "G", "start": 563 } ], "gene": "http://reg.genome.network/gene/GN016446", "geneNCBI_id": 79092, "geneSymbol": "CARD14", "hgvs": [ "XM_011525221.1:c.424G>A" ], "proteinEffect": { "hgvs": "XP_011523523.1:p.Glu142Lys", "hgvsWellDefined": "XP_011523523.1:p.Glu142Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS092340" }, { "coordinates": [ { "allele": "A", "end": 564, "referenceAllele": "G", "start": 563 } ], "gene": "http://reg.genome.network/gene/GN016446", "geneNCBI_id": 79092, "geneSymbol": "CARD14", "hgvs": [ "XM_011525222.1:c.424G>A" ], "proteinEffect": { "hgvs": "XP_011523524.1:p.Glu142Lys", "hgvsWellDefined": "XP_011523524.1:p.Glu142Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS092341" }, { "coordinates": [ { "allele": "A", "end": 564, "referenceAllele": "G", "start": 563 } ], "gene": "http://reg.genome.network/gene/GN016446", "geneNCBI_id": 79092, "geneSymbol": "CARD14", "hgvs": [ "XM_011525223.1:c.424G>A" ], "proteinEffect": { "hgvs": "XP_011523525.1:p.Glu142Lys", "hgvsWellDefined": "XP_011523525.1:p.Glu142Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS092342" }, { "coordinates": [ { "allele": "A", "end": 564, "referenceAllele": "G", "start": 563 } ], "gene": "http://reg.genome.network/gene/GN016446", "geneNCBI_id": 79092, "geneSymbol": "CARD14", "hgvs": [ "XR_934547.1:n.564G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS129851" }, { "@id": "http://reg.genome.network/allele/PA2828206878", "coordinates": [ { "allele": "A", "end": 1140, "referenceAllele": "G", "start": 1139 } ], "gene": "http://reg.genome.network/gene/GN016446", "geneNCBI_id": 79092, "geneSymbol": "CARD14", "hgvs": [ "NM_001366385.1:c.424G>A" ], "proteinEffect": { "hgvs": "NP_001353314.1:p.Glu142Lys", "hgvsWellDefined": "NP_001353314.1:p.Glu142Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS524597", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000648509.2:c.424G>A" }, "RefSeq": { "hgvs": "NM_001366385.1:c.424G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000498071.1:p.Glu142Lys" }, "RefSeq": { "hgvs": "NP_001353314.1:p.Glu142Lys" } } } }, { "coordinates": [ { "allele": "A", "end": 654, "referenceAllele": "G", "start": 653 } ], "gene": "http://reg.genome.network/gene/GN016446", "geneNCBI_id": 79092, "geneSymbol": "CARD14", "hgvs": [ "XM_011525218.2:c.424G>A" ], "proteinEffect": { "hgvs": "XP_011523520.1:p.Glu142Lys", "hgvsWellDefined": "XP_011523520.1:p.Glu142Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS547791" }, { "coordinates": [ { "allele": "A", "end": 564, "referenceAllele": "G", "start": 563 } ], "gene": "http://reg.genome.network/gene/GN016446", "geneNCBI_id": 79092, "geneSymbol": "CARD14", "hgvs": [ "XM_024450934.1:c.424G>A" ], "proteinEffect": { "hgvs": "XP_024306702.1:p.Glu142Lys", "hgvsWellDefined": "XP_024306702.1:p.Glu142Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS584463" }, { "coordinates": [ { "allele": "A", "end": 564, "referenceAllele": "G", "start": 563 } ], "gene": "http://reg.genome.network/gene/GN016446", "geneNCBI_id": 79092, "geneSymbol": "CARD14", "hgvs": [ "XM_024450935.1:c.424G>A" ], "proteinEffect": { "hgvs": "XP_024306703.1:p.Glu142Lys", "hgvsWellDefined": "XP_024306703.1:p.Glu142Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS584464" }, { "coordinates": [ { "allele": "A", "end": 564, "referenceAllele": "G", "start": 563 } ], "gene": "http://reg.genome.network/gene/GN016446", "geneNCBI_id": 79092, "geneSymbol": "CARD14", "hgvs": [ "XM_024450936.1:c.424G>A" ], "proteinEffect": { "hgvs": "XP_024306704.1:p.Glu142Lys", "hgvsWellDefined": "XP_024306704.1:p.Glu142Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS584465" }, { "coordinates": [ { "allele": "A", "end": 564, "referenceAllele": "G", "start": 563 } ], "gene": "http://reg.genome.network/gene/GN016446", "geneNCBI_id": 79092, "geneSymbol": "CARD14", "hgvs": [ "XM_024450937.1:c.424G>A" ], "proteinEffect": { "hgvs": "XP_024306705.1:p.Glu142Lys", "hgvsWellDefined": "XP_024306705.1:p.Glu142Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS584466" }, { "coordinates": [ { "allele": "A", "end": 564, "referenceAllele": "G", "start": 563 } ], "gene": "http://reg.genome.network/gene/GN016446", "geneNCBI_id": 79092, "geneSymbol": "CARD14", "hgvs": [ "XR_002958065.1:n.564G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS604192" }, { "coordinates": [ { "allele": "A", "end": 564, "referenceAllele": "G", "start": 563 } ], "gene": "http://reg.genome.network/gene/GN016446", "geneNCBI_id": 79092, "geneSymbol": "CARD14", "hgvs": [ "XR_002958066.1:n.564G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS604193" }, { "coordinates": [ { "allele": "A", "end": 619, "referenceAllele": "G", "start": 618 } ], "gene": "http://reg.genome.network/gene/GN016446", "geneNCBI_id": 79092, "geneSymbol": "CARD14", "hgvs": [ "NR_047566.2:n.619G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS702515" } ], "type": "nucleotide" }