{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA397146563", "communityStandardTitle": [ "NM_013275.6(ANKRD11):c.7754G>A (p.Arg2585His)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5629827", "active": true, "id": "COSM5629827" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2671595[alleleid]", "alleleId": 2671595, "preferredName": "NM_013275.6(ANKRD11):c.7754G>A (p.Arg2585His)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2506622", "RCV": [ "RCV003236991", "RCV003900993" ], "variationId": 2506622 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.89337277C>T?assembly=hg19", "id": "chr16:g.89337277C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.89270869C>T?assembly=hg38", "id": "chr16:g.89270869C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1567537296", "rs": 1567537296 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-89270869-C-T?dataset=gnomad_r4", "id": "16-89270869-C-T", "variant": "16:89270869 C / T" } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 89270869, "referenceAllele": "C", "start": 89270868 } ], "hgvs": [ "NC_000016.10:g.89270869C>T", "CM000678.2:g.89270869C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000064" }, { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 89337277, "referenceAllele": "C", "start": 89337276 } ], "hgvs": [ "NC_000016.9:g.89337277C>T", "CM000678.1:g.89337277C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000040" }, { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 87864778, "referenceAllele": "C", "start": 87864777 } ], "hgvs": [ "NC_000016.8:g.87864778C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000016" }, { "coordinates": [ { "allele": "A", "end": 224693, "referenceAllele": "G", "start": 224692 } ], "hgvs": [ "NG_032003.1:g.224693G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS005088" }, { "coordinates": [ { "allele": "A", "end": 224693, "referenceAllele": "G", "start": 224692 } ], "hgvs": [ "NG_032003.2:g.224693G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS673857" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 8215, "referenceAllele": "G", "start": 8214 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "ENST00000301030.10:c.7754G>A" ], "proteinEffect": { "hgvs": "ENSP00000301030.4:p.Arg2585His", "hgvsWellDefined": "ENSP00000301030.4:p.Arg2585His" }, "referenceSequence": "http://reg.genome.network/refseq/RS744803", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000301030.10:c.7754G>A" }, "RefSeq": { "hgvs": "NM_013275.6:c.7754G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000301030.4:p.Arg2585His" }, "RefSeq": { "hgvs": "NP_037407.4:p.Arg2585His" } } } }, { "coordinates": [ { "allele": "A", "end": 8067, "referenceAllele": "G", "start": 8066 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "ENST00000330736.10:c.*7557G>A" ], "proteinEffect": { "hgvs": "ENSP00000330815.5:n.*7557G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS747095" }, { "coordinates": [ { "allele": "A", "end": 8045, "referenceAllele": "G", "start": 8044 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "ENST00000378330.7:c.7754G>A" ], "proteinEffect": { "hgvs": "ENSP00000367581.2:p.Arg2585His", "hgvsWellDefined": "ENSP00000367581.2:p.Arg2585His" }, "referenceSequence": "http://reg.genome.network/refseq/RS752067" }, { "coordinates": [ { "allele": "A", "end": 8130, "referenceAllele": "G", "start": 8129 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "ENST00000642600.1:c.7754G>A" ], "proteinEffect": { "hgvs": "ENSP00000495226.1:p.Arg2585His", "hgvsWellDefined": "ENSP00000495226.1:p.Arg2585His" }, "referenceSequence": "http://reg.genome.network/refseq/RS766832" }, { "coordinates": [ { "allele": "A", "end": 1028, "referenceAllele": "G", "start": 1027 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "ENST00000644285.1:c.1028G>A" ], "proteinEffect": { "hgvs": "ENSP00000496476.1:p.Arg343His", "hgvsWellDefined": "ENSP00000496476.1:p.Arg343His" }, "referenceSequence": "http://reg.genome.network/refseq/RS767741" }, { "coordinates": [ { "allele": "A", "end": 8215, "referenceAllele": "G", "start": 8214 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "ENST00000301030.8:c.7754G>A" ], "proteinEffect": { "hgvs": "ENSP00000301030.4:p.Arg2585His", "hgvsWellDefined": "ENSP00000301030.4:p.Arg2585His" }, "referenceSequence": "http://reg.genome.network/refseq/RS254944" }, { "coordinates": [ { "allele": "A", "end": 7974, "referenceAllele": "G", "start": 7973 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "ENST00000330736.9:c.*7557G>A" ], "proteinEffect": { "hgvs": "ENSP00000330815.5:n.*7557G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS259288" }, { "coordinates": [ { "allele": "A", "end": 8043, "referenceAllele": "G", "start": 8042 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "ENST00000378330.6:c.7754G>A" ], "proteinEffect": { "hgvs": "ENSP00000367581.2:p.Arg2585His", "hgvsWellDefined": "ENSP00000367581.2:p.Arg2585His" }, "referenceSequence": "http://reg.genome.network/refseq/RS271989" }, { "coordinates": [ { "allele": "A", "end": 435, "referenceAllele": "G", "start": 434 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "ENST00000562194.1:c.435G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS376627" }, { "@id": "http://reg.genome.network/allele/PA2826374697", "coordinates": [ { "allele": "A", "end": 8286, "referenceAllele": "G", "start": 8285 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "NM_001256182.1:c.7754G>A" ], "proteinEffect": { "hgvs": "NP_001243111.1:p.Arg2585His", "hgvsWellDefined": "NP_001243111.1:p.Arg2585His" }, "referenceSequence": "http://reg.genome.network/refseq/RS019125" }, { "@id": "http://reg.genome.network/allele/PA2826376569", "coordinates": [ { "allele": "A", "end": 8212, "referenceAllele": "G", "start": 8211 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "NM_001256183.1:c.7754G>A" ], "proteinEffect": { "hgvs": "NP_001243112.1:p.Arg2585His", "hgvsWellDefined": "NP_001243112.1:p.Arg2585His" }, "referenceSequence": "http://reg.genome.network/refseq/RS019126" }, { "@id": "http://reg.genome.network/allele/PA2741936938", "coordinates": [ { "allele": "A", "end": 8215, "referenceAllele": "G", "start": 8214 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "NM_013275.5:c.7754G>A" ], "proteinEffect": { "hgvs": "NP_037407.4:p.Arg2585His", "hgvsWellDefined": "NP_037407.4:p.Arg2585His" }, "referenceSequence": "http://reg.genome.network/refseq/RS032679" }, { "coordinates": [ { "allele": "A", "end": 7992, "referenceAllele": "G", "start": 7991 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_006721181.1:c.7652G>A" ], "proteinEffect": { "hgvs": "XP_006721244.1:p.Arg2551His", "hgvsWellDefined": "XP_006721244.1:p.Arg2551His" }, "referenceSequence": "http://reg.genome.network/refseq/RS073977" }, { "coordinates": [ { "allele": "A", "end": 8030, "referenceAllele": "G", "start": 8029 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_006721184.2:c.7457G>A" ], "proteinEffect": { "hgvs": "XP_006721247.1:p.Arg2486His", "hgvsWellDefined": "XP_006721247.1:p.Arg2486His" }, "referenceSequence": "http://reg.genome.network/refseq/RS073978" }, { "coordinates": [ { "allele": "A", "end": 8272, "referenceAllele": "G", "start": 8271 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523051.1:c.7754G>A" ], "proteinEffect": { "hgvs": "XP_011521353.1:p.Arg2585His", "hgvsWellDefined": "XP_011521353.1:p.Arg2585His" }, "referenceSequence": "http://reg.genome.network/refseq/RS090191" }, { "coordinates": [ { "allele": "A", "end": 7977, "referenceAllele": "G", "start": 7976 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523052.1:c.7754G>A" ], "proteinEffect": { "hgvs": "XP_011521354.1:p.Arg2585His", "hgvsWellDefined": "XP_011521354.1:p.Arg2585His" }, "referenceSequence": "http://reg.genome.network/refseq/RS090192" }, { "coordinates": [ { "allele": "A", "end": 8410, "referenceAllele": "G", "start": 8409 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523053.1:c.7754G>A" ], "proteinEffect": { "hgvs": "XP_011521355.1:p.Arg2585His", "hgvsWellDefined": "XP_011521355.1:p.Arg2585His" }, "referenceSequence": "http://reg.genome.network/refseq/RS090193" }, { "coordinates": [ { "allele": "A", "end": 8325, "referenceAllele": "G", "start": 8324 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523054.1:c.7652G>A" ], "proteinEffect": { "hgvs": "XP_011521356.1:p.Arg2551His", "hgvsWellDefined": "XP_011521356.1:p.Arg2551His" }, "referenceSequence": "http://reg.genome.network/refseq/RS090194" }, { "coordinates": [ { "allele": "A", "end": 8598, "referenceAllele": "G", "start": 8597 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523055.1:c.7652G>A" ], "proteinEffect": { "hgvs": "XP_011521357.1:p.Arg2551His", "hgvsWellDefined": "XP_011521357.1:p.Arg2551His" }, "referenceSequence": "http://reg.genome.network/refseq/RS090195" }, { "coordinates": [ { "allele": "A", "end": 8347, "referenceAllele": "G", "start": 8346 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523056.1:c.7625G>A" ], "proteinEffect": { "hgvs": "XP_011521358.1:p.Arg2542His", "hgvsWellDefined": "XP_011521358.1:p.Arg2542His" }, "referenceSequence": "http://reg.genome.network/refseq/RS090196" }, { "coordinates": [ { "allele": "A", "end": 8227, "referenceAllele": "G", "start": 8226 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523057.1:c.7754G>A" ], "proteinEffect": { "hgvs": "XP_011521359.1:p.Arg2585His", "hgvsWellDefined": "XP_011521359.1:p.Arg2585His" }, "referenceSequence": "http://reg.genome.network/refseq/RS090197" }, { "coordinates": [ { "allele": "A", "end": 8276, "referenceAllele": "G", "start": 8275 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523051.3:c.7754G>A" ], "proteinEffect": { "hgvs": "XP_011521353.1:p.Arg2585His", "hgvsWellDefined": "XP_011521353.1:p.Arg2585His" }, "referenceSequence": "http://reg.genome.network/refseq/RS546876" }, { "coordinates": [ { "allele": "A", "end": 8381, "referenceAllele": "G", "start": 8380 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523053.2:c.7754G>A" ], "proteinEffect": { "hgvs": "XP_011521355.1:p.Arg2585His", "hgvsWellDefined": "XP_011521355.1:p.Arg2585His" }, "referenceSequence": "http://reg.genome.network/refseq/RS546877" }, { "coordinates": [ { "allele": "A", "end": 8295, "referenceAllele": "G", "start": 8294 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523054.2:c.7652G>A" ], "proteinEffect": { "hgvs": "XP_011521356.1:p.Arg2551His", "hgvsWellDefined": "XP_011521356.1:p.Arg2551His" }, "referenceSequence": "http://reg.genome.network/refseq/RS546878" }, { "coordinates": [ { "allele": "A", "end": 8580, "referenceAllele": "G", "start": 8579 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523055.2:c.7652G>A" ], "proteinEffect": { "hgvs": "XP_011521357.1:p.Arg2551His", "hgvsWellDefined": "XP_011521357.1:p.Arg2551His" }, "referenceSequence": "http://reg.genome.network/refseq/RS546879" }, { "coordinates": [ { "allele": "A", "end": 8317, "referenceAllele": "G", "start": 8316 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523056.2:c.7625G>A" ], "proteinEffect": { "hgvs": "XP_011521358.1:p.Arg2542His", "hgvsWellDefined": "XP_011521358.1:p.Arg2542His" }, "referenceSequence": "http://reg.genome.network/refseq/RS546880" }, { "coordinates": [ { "allele": "A", "end": 8198, "referenceAllele": "G", "start": 8197 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523057.2:c.7754G>A" ], "proteinEffect": { "hgvs": "XP_011521359.1:p.Arg2585His", "hgvsWellDefined": "XP_011521359.1:p.Arg2585His" }, "referenceSequence": "http://reg.genome.network/refseq/RS546881" }, { "coordinates": [ { "allele": "A", "end": 8762, "referenceAllele": "G", "start": 8761 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_017023182.2:c.7754G>A" ], "proteinEffect": { "hgvs": "XP_016878671.1:p.Arg2585His", "hgvsWellDefined": "XP_016878671.1:p.Arg2585His" }, "referenceSequence": "http://reg.genome.network/refseq/RS573985" }, { "coordinates": [ { "allele": "A", "end": 8384, "referenceAllele": "G", "start": 8383 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_017023183.1:c.7754G>A" ], "proteinEffect": { "hgvs": "XP_016878672.1:p.Arg2585His", "hgvsWellDefined": "XP_016878672.1:p.Arg2585His" }, "referenceSequence": "http://reg.genome.network/refseq/RS573986" }, { "coordinates": [ { "allele": "A", "end": 8381, "referenceAllele": "G", "start": 8380 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_017023184.1:c.7754G>A" ], "proteinEffect": { "hgvs": "XP_016878673.1:p.Arg2585His", "hgvsWellDefined": "XP_016878673.1:p.Arg2585His" }, "referenceSequence": "http://reg.genome.network/refseq/RS573987" }, { "coordinates": [ { "allele": "A", "end": 8022, "referenceAllele": "G", "start": 8021 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_017023185.1:c.7754G>A" ], "proteinEffect": { "hgvs": "XP_016878674.1:p.Arg2585His", "hgvsWellDefined": "XP_016878674.1:p.Arg2585His" }, "referenceSequence": "http://reg.genome.network/refseq/RS573988" }, { "coordinates": [ { "allele": "A", "end": 8758, "referenceAllele": "G", "start": 8757 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_017023186.1:c.7754G>A" ], "proteinEffect": { "hgvs": "XP_016878675.1:p.Arg2585His", "hgvsWellDefined": "XP_016878675.1:p.Arg2585His" }, "referenceSequence": "http://reg.genome.network/refseq/RS573989" }, { "coordinates": [ { "allele": "A", "end": 8110, "referenceAllele": "G", "start": 8109 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_017023187.1:c.7754G>A" ], "proteinEffect": { "hgvs": "XP_016878676.1:p.Arg2585His", "hgvsWellDefined": "XP_016878676.1:p.Arg2585His" }, "referenceSequence": "http://reg.genome.network/refseq/RS573990" }, { "coordinates": [ { "allele": "A", "end": 8292, "referenceAllele": "G", "start": 8291 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_024450244.1:c.7652G>A" ], "proteinEffect": { "hgvs": "XP_024306012.1:p.Arg2551His", "hgvsWellDefined": "XP_024306012.1:p.Arg2551His" }, "referenceSequence": "http://reg.genome.network/refseq/RS583785" }, { "@id": "http://reg.genome.network/allele/PA2741936938", "coordinates": [ { "allele": "A", "end": 8215, "referenceAllele": "G", "start": 8214 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "NM_013275.6:c.7754G>A" ], "proteinEffect": { "hgvs": "NP_037407.4:p.Arg2585His", "hgvsWellDefined": "NP_037407.4:p.Arg2585His" }, "referenceSequence": "http://reg.genome.network/refseq/RS668098", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000301030.10:c.7754G>A" }, "RefSeq": { "hgvs": "NM_013275.6:c.7754G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000301030.4:p.Arg2585His" }, "RefSeq": { "hgvs": "NP_037407.4:p.Arg2585His" } } } }, { "@id": "http://reg.genome.network/allele/PA2826374697", "coordinates": [ { "allele": "A", "end": 8286, "referenceAllele": "G", "start": 8285 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "NM_001256182.2:c.7754G>A" ], "proteinEffect": { "hgvs": "NP_001243111.1:p.Arg2585His", "hgvsWellDefined": "NP_001243111.1:p.Arg2585His" }, "referenceSequence": "http://reg.genome.network/refseq/RS680509" }, { "@id": "http://reg.genome.network/allele/PA2826376569", "coordinates": [ { "allele": "A", "end": 8212, "referenceAllele": "G", "start": 8211 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "NM_001256183.2:c.7754G>A" ], "proteinEffect": { "hgvs": "NP_001243112.1:p.Arg2585His", "hgvsWellDefined": "NP_001243112.1:p.Arg2585His" }, "referenceSequence": "http://reg.genome.network/refseq/RS680510" } ], "type": "nucleotide" }