{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA408207095", "communityStandardTitle": [ "NM_015192.4(PLCB1):c.2179T>C (p.Trp727Arg)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr20:g.8717810T>C?assembly=hg19", "id": "chr20:g.8717810T>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr20:g.8737163T>C?assembly=hg38", "id": "chr20:g.8737163T>C" } ] }, "genomicAlleles": [ { "chromosome": "20", "coordinates": [ { "allele": "C", "end": 8737163, "referenceAllele": "T", "start": 8737162 } ], "hgvs": [ "NC_000020.11:g.8737163T>C", "CM000682.2:g.8737163T>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000068" }, { "chromosome": "20", "coordinates": [ { "allele": "C", "end": 8717810, "referenceAllele": "T", "start": 8717809 } ], "hgvs": [ "NC_000020.10:g.8717810T>C", "CM000682.1:g.8717810T>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000044" }, { "chromosome": "20", "coordinates": [ { "allele": "C", "end": 8665810, "referenceAllele": "T", "start": 8665809 } ], "hgvs": [ "NC_000020.9:g.8665810T>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000020" }, { "coordinates": [ { "allele": "C", "end": 609515, "referenceAllele": "T", "start": 609514 } ], "hgvs": [ "NG_028168.1:g.609515T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS004114" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 2565, "referenceAllele": "T", "start": 2564 } ], "gene": "http://reg.genome.network/gene/GN015917", "geneNCBI_id": 23236, "geneSymbol": "PLCB1", "hgvs": [ "ENST00000338037.11:c.2179T>C" ], "proteinEffect": { "hgvs": "ENSP00000338185.6:p.Trp727Arg", "hgvsWellDefined": "ENSP00000338185.6:p.Trp727Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS747707", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000338037.11:c.2179T>C" }, "RefSeq": { "hgvs": "NM_015192.4:c.2179T>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000338185.6:p.Trp727Arg" }, "RefSeq": { "hgvs": "NP_056007.1:p.Trp727Arg" } } } }, { "coordinates": [ { "allele": "C", "end": 2250, "referenceAllele": "T", "start": 2249 } ], "gene": "http://reg.genome.network/gene/GN015917", "geneNCBI_id": 23236, "geneSymbol": "PLCB1", "hgvs": [ "ENST00000635830.1:n.2250T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS762668" }, { "coordinates": [ { "allele": "C", "end": 2043, "referenceAllele": "T", "start": 2042 } ], "gene": "http://reg.genome.network/gene/GN015917", "geneNCBI_id": 23236, "geneSymbol": "PLCB1", "hgvs": [ "ENST00000636825.1:n.2043T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS763409" }, { "coordinates": [ { "allele": "C", "end": 2134, "referenceAllele": "T", "start": 2133 } ], "gene": "http://reg.genome.network/gene/GN015917", "geneNCBI_id": 23236, "geneSymbol": "PLCB1", "hgvs": [ "ENST00000637919.1:c.1876T>C" ], "proteinEffect": { "hgvs": "ENSP00000490862.1:p.Trp626Arg", "hgvsWellDefined": "ENSP00000490862.1:p.Trp626Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS764209" }, { "coordinates": [ { "allele": "C", "end": 2566, "referenceAllele": "T", "start": 2565 } ], "gene": "http://reg.genome.network/gene/GN015917", "geneNCBI_id": 23236, "geneSymbol": "PLCB1", "hgvs": [ "ENST00000338037.10:c.2179T>C" ], "proteinEffect": { "hgvs": "ENSP00000338185.6:p.Trp727Arg", "hgvsWellDefined": "ENSP00000338185.6:p.Trp727Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS260573" }, { "coordinates": [ { "allele": "C", "end": 2182, "referenceAllele": "T", "start": 2181 } ], "gene": "http://reg.genome.network/gene/GN015917", "geneNCBI_id": 23236, "geneSymbol": "PLCB1", "hgvs": [ "ENST00000378637.6:c.2179T>C" ], "proteinEffect": { "hgvs": "ENSP00000367904.2:p.Trp727Arg", "hgvsWellDefined": "ENSP00000367904.2:p.Trp727Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS272129" }, { "coordinates": [ { "allele": "C", "end": 2693, "referenceAllele": "T", "start": 2692 } ], "gene": "http://reg.genome.network/gene/GN015917", "geneNCBI_id": 23236, "geneSymbol": "PLCB1", "hgvs": [ "ENST00000378641.7:c.2179T>C" ], "proteinEffect": { "hgvs": "ENSP00000367908.3:p.Trp727Arg", "hgvsWellDefined": "ENSP00000367908.3:p.Trp727Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS272131" }, { "coordinates": [ { "allele": "C", "end": 136, "referenceAllele": "T", "start": 135 } ], "gene": "http://reg.genome.network/gene/GN015917", "geneNCBI_id": 23236, "geneSymbol": "PLCB1", "hgvs": [ "ENST00000439627.2:c.136T>C" ], "proteinEffect": { "hgvs": "ENSP00000391162.1:p.Trp46Arg", "hgvsWellDefined": "ENSP00000391162.1:p.Trp46Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS295514" }, { "coordinates": [ { "allele": "C", "end": 1401, "referenceAllele": "T", "start": 1400 } ], "gene": "http://reg.genome.network/gene/GN015917", "geneNCBI_id": 23236, "geneSymbol": "PLCB1", "hgvs": [ "ENST00000487210.5:c.1401T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS325833" }, { "coordinates": [ { "allele": "C", "end": 1331, "referenceAllele": "T", "start": 1330 } ], "gene": "http://reg.genome.network/gene/GN015917", "geneNCBI_id": 23236, "geneSymbol": "PLCB1", "hgvs": [ "ENST00000494924.2:n.1331T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS331737" }, { "coordinates": [ { "allele": "C", "end": 1939, "referenceAllele": "T", "start": 1938 } ], "gene": "http://reg.genome.network/gene/GN015917", "geneNCBI_id": 23236, "geneSymbol": "PLCB1", "hgvs": [ "ENST00000612075.4:c.1939T>C" ], "proteinEffect": { "hgvs": "ENSP00000479997.1:p.Trp647Arg", "hgvsWellDefined": "ENSP00000479997.1:p.Trp647Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS401146" }, { "coordinates": [ { "allele": "C", "end": 1939, "referenceAllele": "T", "start": 1938 } ], "gene": "http://reg.genome.network/gene/GN015917", "geneNCBI_id": 23236, "geneSymbol": "PLCB1", "hgvs": [ "ENST00000617005.4:c.1939T>C" ], "proteinEffect": { "hgvs": "ENSP00000477664.1:p.Trp647Arg", "hgvsWellDefined": "ENSP00000477664.1:p.Trp647Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS403301" }, { "coordinates": [ { "allele": "C", "end": 2201, "referenceAllele": "T", "start": 2200 } ], "gene": "http://reg.genome.network/gene/GN015917", "geneNCBI_id": 23236, "geneSymbol": "PLCB1", "hgvs": [ "ENST00000625874.2:c.1876T>C" ], "proteinEffect": { "hgvs": "ENSP00000486301.1:p.Trp626Arg", "hgvsWellDefined": "ENSP00000486301.1:p.Trp626Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS406636" }, { "coordinates": [ { "allele": "C", "end": 1989, "referenceAllele": "T", "start": 1988 } ], "gene": "http://reg.genome.network/gene/GN015917", "geneNCBI_id": 23236, "geneSymbol": "PLCB1", "hgvs": [ "ENST00000626966.2:c.1876T>C" ], "proteinEffect": { "hgvs": "ENSP00000487075.1:p.Trp626Arg", "hgvsWellDefined": "ENSP00000487075.1:p.Trp626Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS406822" }, { "@id": "http://reg.genome.network/allele/PA2829813955", "coordinates": [ { "allele": "C", "end": 2566, "referenceAllele": "T", "start": 2565 } ], "gene": "http://reg.genome.network/gene/GN015917", "geneNCBI_id": 23236, "geneSymbol": "PLCB1", "hgvs": [ "NM_015192.3:c.2179T>C" ], "proteinEffect": { "hgvs": "NP_056007.1:p.Trp727Arg", "hgvsWellDefined": "NP_056007.1:p.Trp727Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS033819" }, { "@id": "http://reg.genome.network/allele/PA645493641", "coordinates": [ { "allele": "C", "end": 2566, "referenceAllele": "T", "start": 2565 } ], "gene": "http://reg.genome.network/gene/GN015917", "geneNCBI_id": 23236, "geneSymbol": "PLCB1", "hgvs": [ "NM_182734.2:c.2179T>C" ], "proteinEffect": { "hgvs": "NP_877398.1:p.Trp727Arg", "hgvsWellDefined": "NP_877398.1:p.Trp727Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS044101" }, { "coordinates": [ { "allele": "C", "end": 2573, "referenceAllele": "T", "start": 2572 } ], "gene": "http://reg.genome.network/gene/GN015917", "geneNCBI_id": 23236, "geneSymbol": "PLCB1", "hgvs": [ "XM_011529199.1:c.2179T>C" ], "proteinEffect": { "hgvs": "XP_011527501.1:p.Trp727Arg", "hgvsWellDefined": "XP_011527501.1:p.Trp727Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS096269" }, { "coordinates": [ { "allele": "C", "end": 1978, "referenceAllele": "T", "start": 1977 } ], "gene": "http://reg.genome.network/gene/GN015917", "geneNCBI_id": 23236, "geneSymbol": "PLCB1", "hgvs": [ "XM_011529200.1:c.1963T>C" ], "proteinEffect": { "hgvs": "XP_011527502.1:p.Trp655Arg", "hgvsWellDefined": "XP_011527502.1:p.Trp655Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS096270" }, { "coordinates": [ { "allele": "C", "end": 2000, "referenceAllele": "T", "start": 1999 } ], "gene": "http://reg.genome.network/gene/GN015917", "geneNCBI_id": 23236, "geneSymbol": "PLCB1", "hgvs": [ "XM_011529201.1:c.1876T>C" ], "proteinEffect": { "hgvs": "XP_011527503.1:p.Trp626Arg", "hgvsWellDefined": "XP_011527503.1:p.Trp626Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS096271" }, { "coordinates": [ { "allele": "C", "end": 502, "referenceAllele": "T", "start": 501 } ], "gene": "http://reg.genome.network/gene/GN015917", "geneNCBI_id": 23236, "geneSymbol": "PLCB1", "hgvs": [ "XM_011529203.1:c.406T>C" ], "proteinEffect": { "hgvs": "XP_011527505.1:p.Trp136Arg", "hgvsWellDefined": "XP_011527505.1:p.Trp136Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS096273" }, { "@id": "http://reg.genome.network/allele/PA2829813955", "coordinates": [ { "allele": "C", "end": 2565, "referenceAllele": "T", "start": 2564 } ], "gene": "http://reg.genome.network/gene/GN015917", "geneNCBI_id": 23236, "geneSymbol": "PLCB1", "hgvs": [ "NM_015192.4:c.2179T>C" ], "proteinEffect": { "hgvs": "NP_056007.1:p.Trp727Arg", "hgvsWellDefined": "NP_056007.1:p.Trp727Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS668674", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000338037.11:c.2179T>C" }, "RefSeq": { "hgvs": "NM_015192.4:c.2179T>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000338185.6:p.Trp727Arg" }, "RefSeq": { "hgvs": "NP_056007.1:p.Trp727Arg" } } } }, { "@id": "http://reg.genome.network/allele/PA645493641", "coordinates": [ { "allele": "C", "end": 2565, "referenceAllele": "T", "start": 2564 } ], "gene": "http://reg.genome.network/gene/GN015917", "geneNCBI_id": 23236, "geneSymbol": "PLCB1", "hgvs": [ "NM_182734.3:c.2179T>C" ], "proteinEffect": { "hgvs": "NP_877398.1:p.Trp727Arg", "hgvsWellDefined": "NP_877398.1:p.Trp727Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS701115" } ], "type": "nucleotide" }