{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA351375", "communityStandardTitle": [ "NM_007347.5(AP4E1):c.2401G>A (p.Glu801Lys)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=226245[alleleid]", "alleleId": 226245, "preferredName": "NM_007347.5(AP4E1):c.2401G>A (p.Glu801Lys)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/242436", "RCV": [ "RCV002518399" ], "variationId": 242436 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/15-51289577-G-A", "id": "15-51289577-G-A", "variant": "15:51289577 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.51289577G>A?assembly=hg19", "id": "chr15:g.51289577G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.50997380G>A?assembly=hg38", "id": "chr15:g.50997380G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/556450190", "rs": 556450190 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/15-51289577-G-A?dataset=gnomad_r2_1", "id": "15-51289577-G-A", "variant": "15:51289577 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/15-50997380-G-A?dataset=gnomad_r3", "id": "15-50997380-G-A", "variant": "15:50997380 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/15-50997380-G-A?dataset=gnomad_r4", "id": "15-50997380-G-A", "variant": "15:50997380 G / A" } ] }, "genomicAlleles": [ { "chromosome": "15", "coordinates": [ { "allele": "A", "end": 50997380, "referenceAllele": "G", "start": 50997379 } ], "hgvs": [ "NC_000015.10:g.50997380G>A", "CM000677.2:g.50997380G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000063" }, { "chromosome": "15", "coordinates": [ { "allele": "A", "end": 51289577, "referenceAllele": "G", "start": 51289576 } ], "hgvs": [ "NC_000015.9:g.51289577G>A", "CM000677.1:g.51289577G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000039" }, { "chromosome": "15", "coordinates": [ { "allele": "A", "end": 49076869, "referenceAllele": "G", "start": 49076868 } ], "hgvs": [ "NC_000015.8:g.49076869G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000015" }, { "coordinates": [ { "allele": "A", "end": 93709, "referenceAllele": "G", "start": 93708 } ], "hgvs": [ "NG_031875.1:g.93709G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS005008" }, { "coordinates": [ { "allele": "A", "end": 93709, "referenceAllele": "G", "start": 93708 } ], "hgvs": [ "NG_031875.2:g.93709G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS673853" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 2497, "referenceAllele": "G", "start": 2496 } ], "gene": "http://reg.genome.network/gene/GN000573", "geneNCBI_id": 23431, "geneSymbol": "AP4E1", "hgvs": [ "ENST00000261842.10:c.2401G>A" ], "proteinEffect": { "hgvs": "ENSP00000261842.5:p.Glu801Lys", "hgvsWellDefined": "ENSP00000261842.5:p.Glu801Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS742223", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000261842.10:c.2401G>A" }, "RefSeq": { "hgvs": "NM_007347.5:c.2401G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000261842.5:p.Glu801Lys" }, "RefSeq": { "hgvs": "NP_031373.2:p.Glu801Lys" } } } }, { "coordinates": [ { "allele": "A", "end": 2507, "referenceAllele": "G", "start": 2506 } ], "gene": "http://reg.genome.network/gene/GN000573", "geneNCBI_id": 23431, "geneSymbol": "AP4E1", "hgvs": [ "ENST00000261842.9:c.2401G>A" ], "proteinEffect": { "hgvs": "ENSP00000261842.5:p.Glu801Lys", "hgvsWellDefined": "ENSP00000261842.5:p.Glu801Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS250861" }, { "coordinates": [ { "allele": "A", "end": 2597, "referenceAllele": "G", "start": 2596 } ], "gene": "http://reg.genome.network/gene/GN000573", "geneNCBI_id": 23431, "geneSymbol": "AP4E1", "hgvs": [ "ENST00000558439.5:c.*1525G>A" ], "proteinEffect": { "hgvs": "ENSP00000452712.1:n.*1525G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS373794" }, { "coordinates": [ { "allele": "A", "end": 2408, "referenceAllele": "G", "start": 2407 } ], "gene": "http://reg.genome.network/gene/GN000573", "geneNCBI_id": 23431, "geneSymbol": "AP4E1", "hgvs": [ "ENST00000560508.1:c.2176G>A" ], "proteinEffect": { "hgvs": "ENSP00000452976.1:p.Glu726Lys", "hgvsWellDefined": "ENSP00000452976.1:p.Glu726Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS375397" }, { "coordinates": [ { "allele": "A", "end": 2456, "referenceAllele": "G", "start": 2455 } ], "gene": "http://reg.genome.network/gene/GN000573", "geneNCBI_id": 23431, "geneSymbol": "AP4E1", "hgvs": [ "ENST00000561393.5:c.*1445G>A" ], "proteinEffect": { "hgvs": "ENSP00000452711.1:n.*1445G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS376075" }, { "@id": "http://reg.genome.network/allele/PA2826351252", "coordinates": [ { "allele": "A", "end": 2531, "referenceAllele": "G", "start": 2530 } ], "gene": "http://reg.genome.network/gene/GN000573", "geneNCBI_id": 23431, "geneSymbol": "AP4E1", "hgvs": [ "NM_001252127.1:c.2176G>A" ], "proteinEffect": { "hgvs": "NP_001239056.1:p.Glu726Lys", "hgvsWellDefined": "NP_001239056.1:p.Glu726Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS018864" }, { "@id": "http://reg.genome.network/allele/PA351376", "coordinates": [ { "allele": "A", "end": 2508, "referenceAllele": "G", "start": 2507 } ], "gene": "http://reg.genome.network/gene/GN000573", "geneNCBI_id": 23431, "geneSymbol": "AP4E1", "hgvs": [ "NM_007347.4:c.2401G>A" ], "proteinEffect": { "hgvs": "NP_031373.2:p.Glu801Lys", "hgvsWellDefined": "NP_031373.2:p.Glu801Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS032245" }, { "coordinates": [ { "allele": "A", "end": 2270, "referenceAllele": "G", "start": 2269 } ], "gene": "http://reg.genome.network/gene/GN000573", "geneNCBI_id": 23431, "geneSymbol": "AP4E1", "hgvs": [ "XM_005254264.2:c.2176G>A" ], "proteinEffect": { "hgvs": "XP_005254321.1:p.Glu726Lys", "hgvsWellDefined": "XP_005254321.1:p.Glu726Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS060577" }, { "coordinates": [ { "allele": "A", "end": 2622, "referenceAllele": "G", "start": 2621 } ], "gene": "http://reg.genome.network/gene/GN000573", "geneNCBI_id": 23431, "geneSymbol": "AP4E1", "hgvs": [ "XM_006720447.2:c.2176G>A" ], "proteinEffect": { "hgvs": "XP_006720510.1:p.Glu726Lys", "hgvsWellDefined": "XP_006720510.1:p.Glu726Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS073666" }, { "coordinates": [ { "allele": "A", "end": 2240, "referenceAllele": "G", "start": 2239 } ], "gene": "http://reg.genome.network/gene/GN000573", "geneNCBI_id": 23431, "geneSymbol": "AP4E1", "hgvs": [ "XM_011521408.1:c.2221G>A" ], "proteinEffect": { "hgvs": "XP_011519710.1:p.Glu741Lys", "hgvsWellDefined": "XP_011519710.1:p.Glu741Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS088569" }, { "coordinates": [ { "allele": "A", "end": 2592, "referenceAllele": "G", "start": 2591 } ], "gene": "http://reg.genome.network/gene/GN000573", "geneNCBI_id": 23431, "geneSymbol": "AP4E1", "hgvs": [ "XM_011521409.1:c.1051G>A" ], "proteinEffect": { "hgvs": "XP_011519711.1:p.Glu351Lys", "hgvsWellDefined": "XP_011519711.1:p.Glu351Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS088570" }, { "coordinates": [ { "allele": "A", "end": 2326, "referenceAllele": "G", "start": 2325 } ], "gene": "http://reg.genome.network/gene/GN000573", "geneNCBI_id": 23431, "geneSymbol": "AP4E1", "hgvs": [ "XM_005254264.4:c.2176G>A" ], "proteinEffect": { "hgvs": "XP_005254321.1:p.Glu726Lys", "hgvsWellDefined": "XP_005254321.1:p.Glu726Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS534096" }, { "coordinates": [ { "allele": "A", "end": 2686, "referenceAllele": "G", "start": 2685 } ], "gene": "http://reg.genome.network/gene/GN000573", "geneNCBI_id": 23431, "geneSymbol": "AP4E1", "hgvs": [ "XM_006720447.4:c.2176G>A" ], "proteinEffect": { "hgvs": "XP_006720510.1:p.Glu726Lys", "hgvsWellDefined": "XP_006720510.1:p.Glu726Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS540097" }, { "coordinates": [ { "allele": "A", "end": 2541, "referenceAllele": "G", "start": 2540 } ], "gene": "http://reg.genome.network/gene/GN000573", "geneNCBI_id": 23431, "geneSymbol": "AP4E1", "hgvs": [ "XM_017022042.2:c.1519G>A" ], "proteinEffect": { "hgvs": "XP_016877531.1:p.Glu507Lys", "hgvsWellDefined": "XP_016877531.1:p.Glu507Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS573094" }, { "coordinates": [ { "allele": "A", "end": 2508, "referenceAllele": "G", "start": 2507 } ], "gene": "http://reg.genome.network/gene/GN000573", "geneNCBI_id": 23431, "geneSymbol": "AP4E1", "hgvs": [ "XR_001751183.1:n.2508G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS598169" }, { "coordinates": [ { "allele": "A", "end": 2384, "referenceAllele": "G", "start": 2383 } ], "gene": "http://reg.genome.network/gene/GN000573", "geneNCBI_id": 23431, "geneSymbol": "AP4E1", "hgvs": [ "XR_001751184.1:n.2384G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS598170" }, { "@id": "http://reg.genome.network/allele/PA351376", "coordinates": [ { "allele": "A", "end": 2497, "referenceAllele": "G", "start": 2496 } ], "gene": "http://reg.genome.network/gene/GN000573", "geneNCBI_id": 23431, "geneSymbol": "AP4E1", "hgvs": [ "NM_007347.5:c.2401G>A" ], "proteinEffect": { "hgvs": "NP_031373.2:p.Glu801Lys", "hgvsWellDefined": "NP_031373.2:p.Glu801Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS667858", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000261842.10:c.2401G>A" }, "RefSeq": { "hgvs": "NM_007347.5:c.2401G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000261842.5:p.Glu801Lys" }, "RefSeq": { "hgvs": "NP_031373.2:p.Glu801Lys" } } } }, { "@id": "http://reg.genome.network/allele/PA2826351252", "coordinates": [ { "allele": "A", "end": 2520, "referenceAllele": "G", "start": 2519 } ], "gene": "http://reg.genome.network/gene/GN000573", "geneNCBI_id": 23431, "geneSymbol": "AP4E1", "hgvs": [ "NM_001252127.2:c.2176G>A" ], "proteinEffect": { "hgvs": "NP_001239056.1:p.Glu726Lys", "hgvsWellDefined": "NP_001239056.1:p.Glu726Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS680391" } ], "type": "nucleotide" }