{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA402537661", "communityStandardTitle": [ "NM_001374385.1(ATP8B1):c.1336G>A (p.Gly446Arg)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2905318[alleleid]", "alleleId": 2905318, "preferredName": "NM_001374385.1(ATP8B1):c.1336G>A (p.Gly446Arg)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2736747", "RCV": [ "RCV003560062" ], "variationId": 2736747 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr18:g.55355624C>T?assembly=hg19", "id": "chr18:g.55355624C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr18:g.57688392C>T?assembly=hg38", "id": "chr18:g.57688392C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1443328607", "rs": 1443328607 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/18-55355624-C-T?dataset=gnomad_r2_1", "id": "18-55355624-C-T", "variant": "18:55355624 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/18-57688392-C-T?dataset=gnomad_r4", "id": "18-57688392-C-T", "variant": "18:57688392 C / T" } ] }, "genomicAlleles": [ { "chromosome": "18", "coordinates": [ { "allele": "T", "end": 57688392, "referenceAllele": "C", "start": 57688391 } ], "hgvs": [ "NC_000018.10:g.57688392C>T", "CM000680.2:g.57688392C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000066" }, { "chromosome": "18", "coordinates": [ { "allele": "T", "end": 55355624, "referenceAllele": "C", "start": 55355623 } ], "hgvs": [ "NC_000018.9:g.55355624C>T", "CM000680.1:g.55355624C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000042" }, { "chromosome": "18", "coordinates": [ { "allele": "T", "end": 53506622, "referenceAllele": "C", "start": 53506621 } ], "hgvs": [ "NC_000018.8:g.53506622C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000018" }, { "coordinates": [ { "allele": "A", "end": 119704, "referenceAllele": "G", "start": 119703 } ], "hgvs": [ "NG_007148.2:g.119704G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000501" }, { "coordinates": [ { "allele": "A", "end": 120431, "referenceAllele": "G", "start": 120430 } ], "hgvs": [ "NG_007148.3:g.120431G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS616070" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1418, "referenceAllele": "G", "start": 1417 } ], "gene": "http://reg.genome.network/gene/GN003706", "geneNCBI_id": 5205, "geneSymbol": "ATP8B1", "hgvs": [ "ENST00000642462.1:c.1336G>A" ], "proteinEffect": { "hgvs": "ENSP00000494712.1:p.Gly446Arg", "hgvsWellDefined": "ENSP00000494712.1:p.Gly446Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS766759" }, { "coordinates": [ { "allele": "A", "end": 1431, "referenceAllele": "G", "start": 1430 } ], "gene": "http://reg.genome.network/gene/GN003706", "geneNCBI_id": 5205, "geneSymbol": "ATP8B1", "hgvs": [ "ENST00000648039.1:c.1336G>A" ], "proteinEffect": { "hgvs": "ENSP00000497863.1:p.Gly446Arg", "hgvsWellDefined": "ENSP00000497863.1:p.Gly446Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS769755" }, { "coordinates": [ { "allele": "A", "end": 1169, "referenceAllele": "G", "start": 1168 } ], "gene": "http://reg.genome.network/gene/GN003706", "geneNCBI_id": 5205, "geneSymbol": "ATP8B1", "hgvs": [ "ENST00000648467.1:c.1169G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS769999" }, { "coordinates": [ { "allele": "A", "end": 1679, "referenceAllele": "G", "start": 1678 } ], "gene": "http://reg.genome.network/gene/GN003706", "geneNCBI_id": 5205, "geneSymbol": "ATP8B1", "hgvs": [ "ENST00000648908.2:c.1336G>A" ], "proteinEffect": { "hgvs": "ENSP00000497896.1:p.Gly446Arg", "hgvsWellDefined": "ENSP00000497896.1:p.Gly446Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS770250", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000648908.2:c.1336G>A" }, "RefSeq": { "hgvs": "NM_001374385.1:c.1336G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000497896.1:p.Gly446Arg" }, "RefSeq": { "hgvs": "NP_001361314.1:p.Gly446Arg" } } } }, { "coordinates": [ { "allele": "A", "end": 1336, "referenceAllele": "G", "start": 1335 } ], "gene": "http://reg.genome.network/gene/GN003706", "geneNCBI_id": 5205, "geneSymbol": "ATP8B1", "hgvs": [ "ENST00000283684.8:c.1336G>A" ], "proteinEffect": { "hgvs": "ENSP00000283684.4:p.Gly446Arg", "hgvsWellDefined": "ENSP00000283684.4:p.Gly446Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS253179" }, { "coordinates": [ { "allele": "A", "end": 1456, "referenceAllele": "G", "start": 1455 } ], "gene": "http://reg.genome.network/gene/GN003706", "geneNCBI_id": 5205, "geneSymbol": "ATP8B1", "hgvs": [ "ENST00000536015.5:c.1336G>A" ], "proteinEffect": { "hgvs": "ENSP00000445359.1:p.Gly446Arg", "hgvsWellDefined": "ENSP00000445359.1:p.Gly446Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS360049" }, { "coordinates": [ { "allele": "A", "end": 277, "referenceAllele": "G", "start": 276 } ], "gene": "http://reg.genome.network/gene/GN003706", "geneNCBI_id": 5205, "geneSymbol": "ATP8B1", "hgvs": [ "ENST00000588255.1:c.64G>A" ], "proteinEffect": { "hgvs": "ENSP00000468266.1:p.Gly22Arg", "hgvsWellDefined": "ENSP00000468266.1:p.Gly22Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS390652" }, { "coordinates": [ { "allele": "A", "end": 1456, "referenceAllele": "G", "start": 1455 } ], "gene": "http://reg.genome.network/gene/GN003706", "geneNCBI_id": 5205, "geneSymbol": "ATP8B1", "hgvs": [ "NM_005603.4:c.1336G>A" ], "proteinEffect": { "hgvs": "NP_005594.1:p.Gly446Arg", "hgvsWellDefined": "NP_005594.1:p.Gly446Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS030690" }, { "coordinates": [ { "allele": "A", "end": 2186, "referenceAllele": "G", "start": 2185 } ], "gene": "http://reg.genome.network/gene/GN003706", "geneNCBI_id": 5205, "geneSymbol": "ATP8B1", "hgvs": [ "XM_006722481.2:c.1336G>A" ], "proteinEffect": { "hgvs": "XP_006722544.1:p.Gly446Arg", "hgvsWellDefined": "XP_006722544.1:p.Gly446Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS074581" }, { "coordinates": [ { "allele": "A", "end": 1401, "referenceAllele": "G", "start": 1400 } ], "gene": "http://reg.genome.network/gene/GN003706", "geneNCBI_id": 5205, "geneSymbol": "ATP8B1", "hgvs": [ "XM_011526020.1:c.1336G>A" ], "proteinEffect": { "hgvs": "XP_011524322.1:p.Gly446Arg", "hgvsWellDefined": "XP_011524322.1:p.Gly446Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS093128" }, { "coordinates": [ { "allele": "A", "end": 1380, "referenceAllele": "G", "start": 1379 } ], "gene": "http://reg.genome.network/gene/GN003706", "geneNCBI_id": 5205, "geneSymbol": "ATP8B1", "hgvs": [ "XM_011526021.1:c.1336G>A" ], "proteinEffect": { "hgvs": "XP_011524323.1:p.Gly446Arg", "hgvsWellDefined": "XP_011524323.1:p.Gly446Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS093129" }, { "coordinates": [ { "allele": "A", "end": 1419, "referenceAllele": "G", "start": 1418 } ], "gene": "http://reg.genome.network/gene/GN003706", "geneNCBI_id": 5205, "geneSymbol": "ATP8B1", "hgvs": [ "XM_011526022.1:c.1336G>A" ], "proteinEffect": { "hgvs": "XP_011524324.1:p.Gly446Arg", "hgvsWellDefined": "XP_011524324.1:p.Gly446Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS093130" }, { "coordinates": [ { "allele": "A", "end": 2072, "referenceAllele": "G", "start": 2071 } ], "gene": "http://reg.genome.network/gene/GN003706", "geneNCBI_id": 5205, "geneSymbol": "ATP8B1", "hgvs": [ "XM_011526023.1:c.1222G>A" ], "proteinEffect": { "hgvs": "XP_011524325.1:p.Gly408Arg", "hgvsWellDefined": "XP_011524325.1:p.Gly408Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS093131" }, { "coordinates": [ { "allele": "A", "end": 856, "referenceAllele": "G", "start": 855 } ], "gene": "http://reg.genome.network/gene/GN003706", "geneNCBI_id": 5205, "geneSymbol": "ATP8B1", "hgvs": [ "XM_011526024.1:c.616G>A" ], "proteinEffect": { "hgvs": "XP_011524326.1:p.Gly206Arg", "hgvsWellDefined": "XP_011524326.1:p.Gly206Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS093132" }, { "coordinates": [ { "allele": "T", "end": 31, "endIntronDirection": "+", "endIntronOffset": 1809, "referenceAllele": "C", "start": 31, "startIntronDirection": "+", "startIntronOffset": 1808 } ], "hgvs": [ "XR_935525.1:n.31+1809C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS130783" }, { "coordinates": [ { "allele": "T", "end": 31, "endIntronDirection": "+", "endIntronOffset": 1809, "referenceAllele": "C", "start": 31, "startIntronDirection": "+", "startIntronOffset": 1808 } ], "hgvs": [ "XR_935526.1:n.31+1809C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS130784" }, { "@id": "http://reg.genome.network/allele/PA2741923265", "coordinates": [ { "allele": "A", "end": 1676, "referenceAllele": "G", "start": 1675 } ], "gene": "http://reg.genome.network/gene/GN003706", "geneNCBI_id": 5205, "geneSymbol": "ATP8B1", "hgvs": [ "NM_005603.6:c.1336G>A" ], "proteinEffect": { "hgvs": "NP_005594.2:p.Gly446Arg", "hgvsWellDefined": "NP_005594.2:p.Gly446Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS525329" }, { "coordinates": [ { "allele": "A", "end": 2186, "referenceAllele": "G", "start": 2185 } ], "gene": "http://reg.genome.network/gene/GN003706", "geneNCBI_id": 5205, "geneSymbol": "ATP8B1", "hgvs": [ "XM_006722481.4:c.1336G>A" ], "proteinEffect": { "hgvs": "XP_006722544.1:p.Gly446Arg", "hgvsWellDefined": "XP_006722544.1:p.Gly446Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS540549" }, { "coordinates": [ { "allele": "A", "end": 2072, "referenceAllele": "G", "start": 2071 } ], "gene": "http://reg.genome.network/gene/GN003706", "geneNCBI_id": 5205, "geneSymbol": "ATP8B1", "hgvs": [ "XM_011526023.3:c.1222G>A" ], "proteinEffect": { "hgvs": "XP_011524325.1:p.Gly408Arg", "hgvsWellDefined": "XP_011524325.1:p.Gly408Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS548105" }, { "@id": "http://reg.genome.network/allele/PA2828509482", "coordinates": [ { "allele": "A", "end": 1679, "referenceAllele": "G", "start": 1678 } ], "gene": "http://reg.genome.network/gene/GN003706", "geneNCBI_id": 5205, "geneSymbol": "ATP8B1", "hgvs": [ "NM_001374385.1:c.1336G>A" ], "proteinEffect": { "hgvs": "NP_001361314.1:p.Gly446Arg", "hgvsWellDefined": "NP_001361314.1:p.Gly446Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS693251", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000648908.2:c.1336G>A" }, "RefSeq": { "hgvs": "NM_001374385.1:c.1336G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000497896.1:p.Gly446Arg" }, "RefSeq": { "hgvs": "NP_001361314.1:p.Gly446Arg" } } } }, { "@id": "http://reg.genome.network/allele/PA2828509982", "coordinates": [ { "allele": "A", "end": 1581, "referenceAllele": "G", "start": 1580 } ], "gene": "http://reg.genome.network/gene/GN003706", "geneNCBI_id": 5205, "geneSymbol": "ATP8B1", "hgvs": [ "NM_001374386.1:c.1186G>A" ], "proteinEffect": { "hgvs": "NP_001361315.1:p.Gly396Arg", "hgvsWellDefined": "NP_001361315.1:p.Gly396Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS693252" } ], "type": "nucleotide" }