{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA411772674", "communityStandardTitle": [ "NM_000106.6(CYP2D6):c.901G>C (p.Asp301His)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr22:g.42523928C>G?assembly=hg19", "id": "chr22:g.42523928C>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr22:g.42127926C>G?assembly=hg38", "id": "chr22:g.42127926C>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1058171", "rs": 1058171 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/22-42523928-C-G?dataset=gnomad_r2_1", "id": "22-42523928-C-G", "variant": "22:42523928 C / G" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/22-42127926-C-G?dataset=gnomad_r4", "id": "22-42127926-C-G", "variant": "22:42127926 C / G" } ] }, "genomicAlleles": [ { "chromosome": "22", "coordinates": [ { "allele": "G", "end": 42127926, "referenceAllele": "C", "start": 42127925 } ], "hgvs": [ "NC_000022.11:g.42127926C>G", "CM000684.2:g.42127926C>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000070" }, { "chromosome": "22", "coordinates": [ { "allele": "G", "end": 42523928, "referenceAllele": "C", "start": 42523927 } ], "hgvs": [ "NC_000022.10:g.42523928C>G", "CM000684.1:g.42523928C>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000046" }, { "chromosome": "22", "coordinates": [ { "allele": "G", "end": 40853872, "referenceAllele": "C", "start": 40853871 } ], "hgvs": [ "NC_000022.9:g.40853872C>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000022" }, { "coordinates": [ { "allele": "C", "end": 7066, "referenceAllele": "G", "start": 7065 } ], "hgvs": [ "NG_008376.3:g.7066G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS001064" }, { "coordinates": [ { "allele": "C", "end": 7885, "referenceAllele": "G", "start": 7884 } ], "hgvs": [ "NG_008376.4:g.7885G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS616101" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 699, "referenceAllele": "G", "start": 698 } ], "gene": "http://reg.genome.network/gene/GN002625", "geneNCBI_id": 1565, "geneSymbol": "CYP2D6", "hgvs": [ "ENST00000360124.10:c.699G>C" ], "proteinEffect": { "hgvs": "ENSP00000353241.6:p.Leu233=" }, "referenceSequence": "http://reg.genome.network/refseq/RS913977" }, { "coordinates": [ { "allele": "C", "end": 920, "referenceAllele": "G", "start": 919 } ], "gene": "http://reg.genome.network/gene/GN002625", "geneNCBI_id": 1565, "geneSymbol": "CYP2D6", "hgvs": [ "ENST00000645361.2:c.901G>C" ], "proteinEffect": { "hgvs": "ENSP00000496150.1:p.Asp301His", "hgvsWellDefined": "ENSP00000496150.1:p.Asp301His" }, "referenceSequence": "http://reg.genome.network/refseq/RS768312", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000645361.2:c.901G>C" }, "RefSeq": { "hgvs": "NM_000106.6:c.901G>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000496150.1:p.Asp301His" }, "RefSeq": { "hgvs": "NP_000097.3:p.Asp301His" } } } }, { "coordinates": [ { "allele": "C", "end": 822, "referenceAllele": "G", "start": 821 } ], "gene": "http://reg.genome.network/gene/GN002625", "geneNCBI_id": 1565, "geneSymbol": "CYP2D6", "hgvs": [ "ENST00000359033.4:c.748G>C" ], "proteinEffect": { "hgvs": "ENSP00000351927.4:p.Asp250His", "hgvsWellDefined": "ENSP00000351927.4:p.Asp250His" }, "referenceSequence": "http://reg.genome.network/refseq/RS264655" }, { "coordinates": [ { "allele": "C", "end": 519, "referenceAllele": "G", "start": 518 } ], "gene": "http://reg.genome.network/gene/GN002625", "geneNCBI_id": 1565, "geneSymbol": "CYP2D6", "hgvs": [ "ENST00000360124.9:c.519G>C" ], "proteinEffect": { "hgvs": "ENSP00000353241.5:p.Leu173=" }, "referenceSequence": "http://reg.genome.network/refseq/RS265022" }, { "coordinates": [ { "allele": "C", "end": 1016, "referenceAllele": "G", "start": 1015 } ], "gene": "http://reg.genome.network/gene/GN002625", "geneNCBI_id": 1565, "geneSymbol": "CYP2D6", "hgvs": [ "ENST00000360608.9:c.901G>C" ], "proteinEffect": { "hgvs": "ENSP00000353820.5:p.Asp301His", "hgvsWellDefined": "ENSP00000353820.5:p.Asp301His" }, "referenceSequence": "http://reg.genome.network/refseq/RS265193" }, { "coordinates": [ { "allele": "C", "end": 991, "referenceAllele": "G", "start": 990 } ], "gene": "http://reg.genome.network/gene/GN002625", "geneNCBI_id": 1565, "geneSymbol": "CYP2D6", "hgvs": [ "ENST00000389970.7:c.835G>C" ], "proteinEffect": { "hgvs": "ENSP00000374620.4:p.Asp279His", "hgvsWellDefined": "ENSP00000374620.4:p.Asp279His" }, "referenceSequence": "http://reg.genome.network/refseq/RS274331" }, { "coordinates": [ { "allele": "C", "end": 1625, "referenceAllele": "G", "start": 1624 } ], "gene": "http://reg.genome.network/gene/GN002625", "geneNCBI_id": 1565, "geneSymbol": "CYP2D6", "hgvs": [ "ENST00000488442.1:n.1625G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS326746" }, { "@id": "http://reg.genome.network/allele/PA3088573078", "coordinates": [ { "allele": "C", "end": 991, "referenceAllele": "G", "start": 990 } ], "gene": "http://reg.genome.network/gene/GN002625", "geneNCBI_id": 1565, "geneSymbol": "CYP2D6", "hgvs": [ "NM_000106.5:c.901G>C" ], "proteinEffect": { "hgvs": "NP_000097.3:p.Asp301His", "hgvsWellDefined": "NP_000097.3:p.Asp301His" }, "referenceSequence": "http://reg.genome.network/refseq/RS006169" }, { "coordinates": [ { "allele": "C", "end": 838, "referenceAllele": "G", "start": 837 } ], "gene": "http://reg.genome.network/gene/GN002625", "geneNCBI_id": 1565, "geneSymbol": "CYP2D6", "hgvs": [ "NM_001025161.2:c.748G>C" ], "proteinEffect": { "hgvs": "NP_001020332.2:p.Asp250His", "hgvsWellDefined": "NP_001020332.2:p.Asp250His" }, "referenceSequence": "http://reg.genome.network/refseq/RS008848" }, { "coordinates": [ { "allele": "C", "end": 2058, "referenceAllele": "G", "start": 2057 } ], "gene": "http://reg.genome.network/gene/GN002625", "geneNCBI_id": 1565, "geneSymbol": "CYP2D6", "hgvs": [ "XM_011529966.1:c.901G>C" ], "proteinEffect": { "hgvs": "XP_011528268.1:p.Asp301His", "hgvsWellDefined": "XP_011528268.1:p.Asp301His" }, "referenceSequence": "http://reg.genome.network/refseq/RS097025" }, { "coordinates": [ { "allele": "C", "end": 2250, "referenceAllele": "G", "start": 2249 } ], "gene": "http://reg.genome.network/gene/GN002625", "geneNCBI_id": 1565, "geneSymbol": "CYP2D6", "hgvs": [ "XM_011529967.1:c.901G>C" ], "proteinEffect": { "hgvs": "XP_011528269.1:p.Asp301His", "hgvsWellDefined": "XP_011528269.1:p.Asp301His" }, "referenceSequence": "http://reg.genome.network/refseq/RS097026" }, { "coordinates": [ { "allele": "C", "end": 2058, "referenceAllele": "G", "start": 2057 } ], "gene": "http://reg.genome.network/gene/GN002625", "geneNCBI_id": 1565, "geneSymbol": "CYP2D6", "hgvs": [ "XM_011529968.1:c.901G>C" ], "proteinEffect": { "hgvs": "XP_011528270.1:p.Asp301His", "hgvsWellDefined": "XP_011528270.1:p.Asp301His" }, "referenceSequence": "http://reg.genome.network/refseq/RS097027" }, { "coordinates": [ { "allele": "C", "end": 1372, "referenceAllele": "G", "start": 1371 } ], "gene": "http://reg.genome.network/gene/GN002625", "geneNCBI_id": 1565, "geneSymbol": "CYP2D6", "hgvs": [ "XM_011529969.1:c.757G>C" ], "proteinEffect": { "hgvs": "XP_011528271.1:p.Asp253His", "hgvsWellDefined": "XP_011528271.1:p.Asp253His" }, "referenceSequence": "http://reg.genome.network/refseq/RS097028" }, { "coordinates": [ { "allele": "C", "end": 1905, "referenceAllele": "G", "start": 1904 } ], "gene": "http://reg.genome.network/gene/GN002625", "geneNCBI_id": 1565, "geneSymbol": "CYP2D6", "hgvs": [ "XM_011529970.1:c.748G>C" ], "proteinEffect": { "hgvs": "XP_011528272.1:p.Asp250His", "hgvsWellDefined": "XP_011528272.1:p.Asp250His" }, "referenceSequence": "http://reg.genome.network/refseq/RS097029" }, { "coordinates": [ { "allele": "C", "end": 1372, "referenceAllele": "G", "start": 1371 } ], "gene": "http://reg.genome.network/gene/GN002625", "geneNCBI_id": 1565, "geneSymbol": "CYP2D6", "hgvs": [ "XM_011529971.1:c.757G>C" ], "proteinEffect": { "hgvs": "XP_011528273.1:p.Asp253His", "hgvsWellDefined": "XP_011528273.1:p.Asp253His" }, "referenceSequence": "http://reg.genome.network/refseq/RS097030" }, { "coordinates": [ { "allele": "C", "end": 2000, "endIntronDirection": "+", "endIntronOffset": 248, "referenceAllele": "G", "start": 2000, "startIntronDirection": "+", "startIntronOffset": 247 } ], "gene": "http://reg.genome.network/gene/GN002625", "geneNCBI_id": 1565, "geneSymbol": "CYP2D6", "hgvs": [ "XM_011529972.1:c.843+248G>C" ], "proteinEffect": { "hgvs": "XP_011528274.1:n.843+248G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS097031" }, { "@id": "http://reg.genome.network/allele/PA3088573078", "coordinates": [ { "allele": "C", "end": 920, "referenceAllele": "G", "start": 919 } ], "gene": "http://reg.genome.network/gene/GN002625", "geneNCBI_id": 1565, "geneSymbol": "CYP2D6", "hgvs": [ "NM_000106.6:c.901G>C" ], "proteinEffect": { "hgvs": "NP_000097.3:p.Asp301His", "hgvsWellDefined": "NP_000097.3:p.Asp301His" }, "referenceSequence": "http://reg.genome.network/refseq/RS510751", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000645361.2:c.901G>C" }, "RefSeq": { "hgvs": "NM_000106.6:c.901G>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000496150.1:p.Asp301His" }, "RefSeq": { "hgvs": "NP_000097.3:p.Asp301His" } } } }, { "coordinates": [ { "allele": "C", "end": 767, "referenceAllele": "G", "start": 766 } ], "gene": "http://reg.genome.network/gene/GN002625", "geneNCBI_id": 1565, "geneSymbol": "CYP2D6", "hgvs": [ "NM_001025161.3:c.748G>C" ], "proteinEffect": { "hgvs": "NP_001020332.2:p.Asp250His", "hgvsWellDefined": "NP_001020332.2:p.Asp250His" }, "referenceSequence": "http://reg.genome.network/refseq/RS675668" } ], "type": "nucleotide" }