{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA408976434", "communityStandardTitle": [ "NM_001282531.3(ADNP):c.724G>A (p.Glu242Lys)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=580647[alleleid]", "alleleId": 580647, "preferredName": "NM_001282531.3(ADNP):c.724G>A (p.Glu242Lys)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/589090", "RCV": [ "RCV002318033" ], "variationId": 589090 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr20:g.49510527C>T?assembly=hg19", "id": "chr20:g.49510527C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr20:g.50893990C>T?assembly=hg38", "id": "chr20:g.50893990C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1568710507", "rs": 1568710507 } ] }, "genomicAlleles": [ { "chromosome": "20", "coordinates": [ { "allele": "T", "end": 50893990, "referenceAllele": "C", "start": 50893989 } ], "hgvs": [ "NC_000020.11:g.50893990C>T", "CM000682.2:g.50893990C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000068" }, { "chromosome": "20", "coordinates": [ { "allele": "T", "end": 49510527, "referenceAllele": "C", "start": 49510526 } ], "hgvs": [ "NC_000020.10:g.49510527C>T", "CM000682.1:g.49510527C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000044" }, { "chromosome": "20", "coordinates": [ { "allele": "T", "end": 48943934, "referenceAllele": "C", "start": 48943933 } ], "hgvs": [ "NC_000020.9:g.48943934C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000020" }, { "coordinates": [ { "allele": "A", "end": 42001, "referenceAllele": "G", "start": 42000 } ], "hgvs": [ "NG_034200.1:g.42001G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS005799" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1021, "referenceAllele": "G", "start": 1020 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "ENST00000349014.8:c.724G>A" ], "proteinEffect": { "hgvs": "ENSP00000342905.3:p.Glu242Lys", "hgvsWellDefined": "ENSP00000342905.3:p.Glu242Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS748388" }, { "coordinates": [ { "allele": "A", "end": 2286, "referenceAllele": "G", "start": 2285 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "ENST00000371602.9:c.724G>A" ], "proteinEffect": { "hgvs": "ENSP00000360662.2:p.Glu242Lys", "hgvsWellDefined": "ENSP00000360662.2:p.Glu242Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS750822" }, { "coordinates": [ { "allele": "A", "end": 1454, "referenceAllele": "G", "start": 1453 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "ENST00000396029.8:c.724G>A" ], "proteinEffect": { "hgvs": "ENSP00000379346.3:p.Glu242Lys", "hgvsWellDefined": "ENSP00000379346.3:p.Glu242Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS753471" }, { "coordinates": [ { "allele": "A", "end": 1325, "referenceAllele": "G", "start": 1324 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "ENST00000396032.8:c.724G>A" ], "proteinEffect": { "hgvs": "ENSP00000379349.2:p.Glu242Lys", "hgvsWellDefined": "ENSP00000379349.2:p.Glu242Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS753472" }, { "coordinates": [ { "allele": "A", "end": 1600, "referenceAllele": "G", "start": 1599 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "ENST00000621696.5:c.724G>A" ], "proteinEffect": { "hgvs": "ENSP00000483881.1:p.Glu242Lys", "hgvsWellDefined": "ENSP00000483881.1:p.Glu242Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS762339", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000621696.5:c.724G>A" }, "RefSeq": { "hgvs": "NM_001282531.3:c.724G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000483881.1:p.Glu242Lys" }, "RefSeq": { "hgvs": "NP_001269460.1:p.Glu242Lys" } } } }, { "coordinates": [ { "allele": "A", "end": 288, "endIntronDirection": "-", "endIntronOffset": 4032, "referenceAllele": "G", "start": 288, "startIntronDirection": "-", "startIntronOffset": 4033 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "ENST00000644386.1:c.202-4033G>A" ], "proteinEffect": { "hgvs": "ENSP00000493755.1:n.202-4033G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS767793" }, { "coordinates": [ { "allele": "A", "end": 1155, "referenceAllele": "G", "start": 1154 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "ENST00000645081.1:c.40G>A" ], "proteinEffect": { "hgvs": "ENSP00000495540.1:p.Glu14Lys", "hgvsWellDefined": "ENSP00000495540.1:p.Glu14Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS768162" }, { "coordinates": [ { "allele": "A", "end": 1559, "referenceAllele": "G", "start": 1558 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "ENST00000673732.1:c.940G>A" ], "proteinEffect": { "hgvs": "ENSP00000501294.1:p.Glu314Lys", "hgvsWellDefined": "ENSP00000501294.1:p.Glu314Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS773824" }, { "coordinates": [ { "allele": "A", "end": 1021, "referenceAllele": "G", "start": 1020 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "ENST00000349014.7:c.724G>A" ], "proteinEffect": { "hgvs": "ENSP00000342905.3:p.Glu242Lys", "hgvsWellDefined": "ENSP00000342905.3:p.Glu242Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS262540" }, { "coordinates": [ { "allele": "A", "end": 1044, "referenceAllele": "G", "start": 1043 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "ENST00000371602.8:c.724G>A" ], "proteinEffect": { "hgvs": "ENSP00000360662.2:p.Glu242Lys", "hgvsWellDefined": "ENSP00000360662.2:p.Glu242Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS268664" }, { "coordinates": [ { "allele": "A", "end": 1319, "referenceAllele": "G", "start": 1318 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "ENST00000396029.7:c.724G>A" ], "proteinEffect": { "hgvs": "ENSP00000379346.3:p.Glu242Lys", "hgvsWellDefined": "ENSP00000379346.3:p.Glu242Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS277050" }, { "coordinates": [ { "allele": "A", "end": 894, "referenceAllele": "G", "start": 893 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "ENST00000396032.7:c.724G>A" ], "proteinEffect": { "hgvs": "ENSP00000379349.2:p.Glu242Lys", "hgvsWellDefined": "ENSP00000379349.2:p.Glu242Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS277051" }, { "coordinates": [ { "allele": "A", "end": 1153, "referenceAllele": "G", "start": 1152 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "ENST00000621696.4:c.724G>A" ], "proteinEffect": { "hgvs": "ENSP00000483881.1:p.Glu242Lys", "hgvsWellDefined": "ENSP00000483881.1:p.Glu242Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS405390" }, { "@id": "http://reg.genome.network/allele/PA2826649051", "coordinates": [ { "allele": "A", "end": 1153, "referenceAllele": "G", "start": 1152 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "NM_001282531.1:c.724G>A" ], "proteinEffect": { "hgvs": "NP_001269460.1:p.Glu242Lys", "hgvsWellDefined": "NP_001269460.1:p.Glu242Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS022018" }, { "@id": "http://reg.genome.network/allele/PA2826649582", "coordinates": [ { "allele": "A", "end": 1021, "referenceAllele": "G", "start": 1020 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "NM_001282532.1:c.724G>A" ], "proteinEffect": { "hgvs": "NP_001269461.1:p.Glu242Lys", "hgvsWellDefined": "NP_001269461.1:p.Glu242Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS022019" }, { "@id": "http://reg.genome.network/allele/PA891850288", "coordinates": [ { "allele": "A", "end": 1069, "referenceAllele": "G", "start": 1068 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "NM_015339.3:c.724G>A" ], "proteinEffect": { "hgvs": "NP_056154.1:p.Glu242Lys", "hgvsWellDefined": "NP_056154.1:p.Glu242Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS033939" }, { "@id": "http://reg.genome.network/allele/PA916077250", "coordinates": [ { "allele": "A", "end": 894, "referenceAllele": "G", "start": 893 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "NM_181442.2:c.724G>A" ], "proteinEffect": { "hgvs": "NP_852107.1:p.Glu242Lys", "hgvsWellDefined": "NP_852107.1:p.Glu242Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS043705" }, { "coordinates": [ { "allele": "A", "end": 752, "referenceAllele": "G", "start": 751 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "XM_011528747.1:c.724G>A" ], "proteinEffect": { "hgvs": "XP_011527049.1:p.Glu242Lys", "hgvsWellDefined": "XP_011527049.1:p.Glu242Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS095818" }, { "coordinates": [ { "allele": "A", "end": 819, "referenceAllele": "G", "start": 818 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "XM_011528748.1:c.751G>A" ], "proteinEffect": { "hgvs": "XP_011527050.1:p.Glu251Lys", "hgvsWellDefined": "XP_011527050.1:p.Glu251Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS095819" }, { "@id": "http://reg.genome.network/allele/PA2826649051", "coordinates": [ { "allele": "A", "end": 1376, "referenceAllele": "G", "start": 1375 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "NM_001282531.2:c.724G>A" ], "proteinEffect": { "hgvs": "NP_001269460.1:p.Glu242Lys", "hgvsWellDefined": "NP_001269460.1:p.Glu242Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS512105" }, { "@id": "http://reg.genome.network/allele/PA2827400013", "coordinates": [ { "allele": "A", "end": 1201, "referenceAllele": "G", "start": 1200 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "NM_001347511.1:c.724G>A" ], "proteinEffect": { "hgvs": "NP_001334440.1:p.Glu242Lys", "hgvsWellDefined": "NP_001334440.1:p.Glu242Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS517785" }, { "@id": "http://reg.genome.network/allele/PA891850288", "coordinates": [ { "allele": "A", "end": 1292, "referenceAllele": "G", "start": 1291 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "NM_015339.4:c.724G>A" ], "proteinEffect": { "hgvs": "NP_056154.1:p.Glu242Lys", "hgvsWellDefined": "NP_056154.1:p.Glu242Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS525680" }, { "@id": "http://reg.genome.network/allele/PA916077250", "coordinates": [ { "allele": "A", "end": 1117, "referenceAllele": "G", "start": 1116 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "NM_181442.3:c.724G>A" ], "proteinEffect": { "hgvs": "NP_852107.1:p.Glu242Lys", "hgvsWellDefined": "NP_852107.1:p.Glu242Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS526858" }, { "coordinates": [ { "allele": "A", "end": 1246, "referenceAllele": "G", "start": 1245 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "XM_011528747.2:c.724G>A" ], "proteinEffect": { "hgvs": "XP_011527049.1:p.Glu242Lys", "hgvsWellDefined": "XP_011527049.1:p.Glu242Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS549238" }, { "coordinates": [ { "allele": "A", "end": 803, "referenceAllele": "G", "start": 802 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "XM_011528748.2:c.751G>A" ], "proteinEffect": { "hgvs": "XP_011527050.1:p.Glu251Lys", "hgvsWellDefined": "XP_011527050.1:p.Glu251Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS549239" }, { "coordinates": [ { "allele": "A", "end": 1959, "referenceAllele": "G", "start": 1958 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "XM_017027758.1:c.724G>A" ], "proteinEffect": { "hgvs": "XP_016883247.1:p.Glu242Lys", "hgvsWellDefined": "XP_016883247.1:p.Glu242Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS577654" }, { "coordinates": [ { "allele": "A", "end": 829, "referenceAllele": "G", "start": 828 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "XM_017027759.1:c.724G>A" ], "proteinEffect": { "hgvs": "XP_016883248.1:p.Glu242Lys", "hgvsWellDefined": "XP_016883248.1:p.Glu242Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS577655" }, { "@id": "http://reg.genome.network/allele/PA2826649051", "coordinates": [ { "allele": "A", "end": 1600, "referenceAllele": "G", "start": 1599 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "NM_001282531.3:c.724G>A" ], "proteinEffect": { "hgvs": "NP_001269460.1:p.Glu242Lys", "hgvsWellDefined": "NP_001269460.1:p.Glu242Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS664204", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000621696.5:c.724G>A" }, "RefSeq": { "hgvs": "NM_001282531.3:c.724G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000483881.1:p.Glu242Lys" }, "RefSeq": { "hgvs": "NP_001269460.1:p.Glu242Lys" } } } }, { "@id": "http://reg.genome.network/allele/PA2827400013", "coordinates": [ { "allele": "A", "end": 1425, "referenceAllele": "G", "start": 1424 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "NM_001347511.2:c.724G>A" ], "proteinEffect": { "hgvs": "NP_001334440.1:p.Glu242Lys", "hgvsWellDefined": "NP_001334440.1:p.Glu242Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS687470" }, { "@id": "http://reg.genome.network/allele/PA891850288", "coordinates": [ { "allele": "A", "end": 1516, "referenceAllele": "G", "start": 1515 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "NM_015339.5:c.724G>A" ], "proteinEffect": { "hgvs": "NP_056154.1:p.Glu242Lys", "hgvsWellDefined": "NP_056154.1:p.Glu242Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS697515" }, { "@id": "http://reg.genome.network/allele/PA916077250", "coordinates": [ { "allele": "A", "end": 1341, "referenceAllele": "G", "start": 1340 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "NM_181442.4:c.724G>A" ], "proteinEffect": { "hgvs": "NP_852107.1:p.Glu242Lys", "hgvsWellDefined": "NP_852107.1:p.Glu242Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS700943" }, { "@id": "http://reg.genome.network/allele/PA2826649582", "coordinates": [ { "allele": "A", "end": 1021, "referenceAllele": "G", "start": 1020 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "NM_001282532.2:c.724G>A" ], "proteinEffect": { "hgvs": "NP_001269461.1:p.Glu242Lys", "hgvsWellDefined": "NP_001269461.1:p.Glu242Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS715832" } ], "type": "nucleotide" }