{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA16602471", "communityStandardTitle": [ "NM_005359.6(SMAD4):c.1051G>C (p.Asp351His)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=14135", "active": true, "id": "COSM14135" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=362877[alleleid]", "alleleId": 362877, "preferredName": "NM_005359.6(SMAD4):c.1051G>C (p.Asp351His)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/375998", "RCV": [ "RCV000427066", "RCV002402119" ], "variationId": 375998 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr18:g.48591888G>C?assembly=hg19", "id": "chr18:g.48591888G>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr18:g.51065518G>C?assembly=hg38", "id": "chr18:g.51065518G>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1057519739", "rs": 1057519739 } ] }, "genomicAlleles": [ { "chromosome": "18", "coordinates": [ { "allele": "C", "end": 51065518, "referenceAllele": "G", "start": 51065517 } ], "hgvs": [ "NC_000018.10:g.51065518G>C", "CM000680.2:g.51065518G>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000066" }, { "chromosome": "18", "coordinates": [ { "allele": "C", "end": 48591888, "referenceAllele": "G", "start": 48591887 } ], "hgvs": [ "NC_000018.9:g.48591888G>C", "CM000680.1:g.48591888G>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000042" }, { "chromosome": "18", "coordinates": [ { "allele": "C", "end": 46845886, "referenceAllele": "G", "start": 46845885 } ], "hgvs": [ "NC_000018.8:g.46845886G>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000018" }, { "coordinates": [ { "allele": "C", "end": 102479, "referenceAllele": "G", "start": 102478 } ], "hgvs": [ "NG_013013.2:g.102479G>C", "LRG_318:g.102479G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS002660" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 1316, "referenceAllele": "G", "start": 1315 } ], "gene": "http://reg.genome.network/gene/GN006770", "geneNCBI_id": 4089, "geneSymbol": "SMAD4", "hgvs": [ "ENST00000588860.6:c.1051G>C" ], "proteinEffect": { "hgvs": "ENSP00000465878.2:p.Asp351His", "hgvsWellDefined": "ENSP00000465878.2:p.Asp351His" }, "referenceSequence": "http://reg.genome.network/refseq/RS914337" }, { "coordinates": [ { "allele": "C", "end": 1355, "referenceAllele": "G", "start": 1354 } ], "gene": "http://reg.genome.network/gene/GN006770", "geneNCBI_id": 4089, "geneSymbol": "SMAD4", "hgvs": [ "ENST00000589076.6:c.1051G>C" ], "proteinEffect": { "hgvs": "ENSP00000466934.2:p.Asp351His", "hgvsWellDefined": "ENSP00000466934.2:p.Asp351His" }, "referenceSequence": "http://reg.genome.network/refseq/RS914338" }, { "coordinates": [ { "allele": "C", "end": 1758, "referenceAllele": "G", "start": 1757 } ], "gene": "http://reg.genome.network/gene/GN006770", "geneNCBI_id": 4089, "geneSymbol": "SMAD4", "hgvs": [ "ENST00000589941.2:c.1051G>C" ], "proteinEffect": { "hgvs": "ENSP00000465874.2:p.Asp351His", "hgvsWellDefined": "ENSP00000465874.2:p.Asp351His" }, "referenceSequence": "http://reg.genome.network/refseq/RS914340" }, { "coordinates": [ { "allele": "C", "end": 1174, "referenceAllele": "G", "start": 1173 } ], "gene": "http://reg.genome.network/gene/GN006770", "geneNCBI_id": 4089, "geneSymbol": "SMAD4", "hgvs": [ "ENST00000590061.2:c.1051G>C" ], "proteinEffect": { "hgvs": "ENSP00000464772.2:p.Asp351His", "hgvsWellDefined": "ENSP00000464772.2:p.Asp351His" }, "referenceSequence": "http://reg.genome.network/refseq/RS914342" }, { "coordinates": [ { "allele": "C", "end": 1583, "referenceAllele": "G", "start": 1582 } ], "gene": "http://reg.genome.network/gene/GN006770", "geneNCBI_id": 4089, "geneSymbol": "SMAD4", "hgvs": [ "ENST00000593223.2:c.1051G>C" ], "proteinEffect": { "hgvs": "ENSP00000466118.2:p.Asp351His", "hgvsWellDefined": "ENSP00000466118.2:p.Asp351His" }, "referenceSequence": "http://reg.genome.network/refseq/RS914349" }, { "coordinates": [ { "allele": "C", "end": 1178, "referenceAllele": "G", "start": 1177 } ], "gene": "http://reg.genome.network/gene/GN006770", "geneNCBI_id": 4089, "geneSymbol": "SMAD4", "hgvs": [ "ENST00000611848.2:c.1051G>C" ], "proteinEffect": { "hgvs": "ENSP00000478613.2:p.Asp351His", "hgvsWellDefined": "ENSP00000478613.2:p.Asp351His" }, "referenceSequence": "http://reg.genome.network/refseq/RS826412" }, { "coordinates": [ { "allele": "C", "end": 2423, "referenceAllele": "G", "start": 2422 } ], "gene": "http://reg.genome.network/gene/GN006770", "geneNCBI_id": 4089, "geneSymbol": "SMAD4", "hgvs": [ "ENST00000684953.1:n.2423G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS829809" }, { "coordinates": [ { "allele": "C", "end": 1502, "referenceAllele": "G", "start": 1501 } ], "gene": "http://reg.genome.network/gene/GN006770", "geneNCBI_id": 4089, "geneSymbol": "SMAD4", "hgvs": [ "ENST00000685090.1:n.1502G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS829875" }, { "coordinates": [ { "allele": "C", "end": 1159, "referenceAllele": "G", "start": 1158 } ], "gene": "http://reg.genome.network/gene/GN006770", "geneNCBI_id": 4089, "geneSymbol": "SMAD4", "hgvs": [ "ENST00000685232.1:n.1159G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS829955" }, { "coordinates": [ { "allele": "C", "end": 302, "referenceAllele": "G", "start": 301 } ], "gene": "http://reg.genome.network/gene/GN006770", "geneNCBI_id": 4089, "geneSymbol": "SMAD4", "hgvs": [ "ENST00000688307.1:n.302G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS831552" }, { "coordinates": [ { "allele": "C", "end": 1159, "referenceAllele": "G", "start": 1158 } ], "gene": "http://reg.genome.network/gene/GN006770", "geneNCBI_id": 4089, "geneSymbol": "SMAD4", "hgvs": [ "ENST00000688574.1:n.1159G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS831698" }, { "coordinates": [ { "allele": "C", "end": 1265, "referenceAllele": "G", "start": 1264 } ], "gene": "http://reg.genome.network/gene/GN006770", "geneNCBI_id": 4089, "geneSymbol": "SMAD4", "hgvs": [ "ENST00000688903.1:n.1265G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS831880" }, { "coordinates": [ { "allele": "C", "end": 2533, "referenceAllele": "G", "start": 2532 } ], "gene": "http://reg.genome.network/gene/GN006770", "geneNCBI_id": 4089, "geneSymbol": "SMAD4", "hgvs": [ "ENST00000691124.1:n.2533G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS833056" }, { "coordinates": [ { "allele": "C", "end": 1589, "referenceAllele": "G", "start": 1588 } ], "gene": "http://reg.genome.network/gene/GN006770", "geneNCBI_id": 4089, "geneSymbol": "SMAD4", "hgvs": [ "ENST00000342988.8:c.1051G>C" ], "proteinEffect": { "hgvs": "ENSP00000341551.3:p.Asp351His", "hgvsWellDefined": "ENSP00000341551.3:p.Asp351His" }, "referenceSequence": "http://reg.genome.network/refseq/RS748110", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000342988.8:c.1051G>C" }, "RefSeq": { "hgvs": "NM_005359.6:c.1051G>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000341551.3:p.Asp351His" }, "RefSeq": { "hgvs": "NP_005350.1:p.Asp351His" } } } }, { "coordinates": [ { "allele": "C", "end": 1589, "referenceAllele": "G", "start": 1588 } ], "gene": "http://reg.genome.network/gene/GN006770", "geneNCBI_id": 4089, "geneSymbol": "SMAD4", "hgvs": [ "ENST00000342988.7:c.1051G>C" ], "proteinEffect": { "hgvs": "ENSP00000341551.3:p.Asp351His", "hgvsWellDefined": "ENSP00000341551.3:p.Asp351His" }, "referenceSequence": "http://reg.genome.network/refseq/RS261669" }, { "coordinates": [ { "allele": "C", "end": 1309, "referenceAllele": "G", "start": 1308 } ], "gene": "http://reg.genome.network/gene/GN006770", "geneNCBI_id": 4089, "geneSymbol": "SMAD4", "hgvs": [ "ENST00000398417.6:c.1051G>C" ], "proteinEffect": { "hgvs": "ENSP00000381452.1:p.Asp351His", "hgvsWellDefined": "ENSP00000381452.1:p.Asp351His" }, "referenceSequence": "http://reg.genome.network/refseq/RS278258" }, { "coordinates": [ { "allele": "C", "end": 763, "referenceAllele": "G", "start": 762 } ], "gene": "http://reg.genome.network/gene/GN006770", "geneNCBI_id": 4089, "geneSymbol": "SMAD4", "hgvs": [ "ENST00000588745.5:c.763G>C" ], "proteinEffect": { "hgvs": "ENSP00000464901.1:p.Asp255His", "hgvsWellDefined": "ENSP00000464901.1:p.Asp255His" }, "referenceSequence": "http://reg.genome.network/refseq/RS390999" }, { "coordinates": [ { "allele": "C", "end": 3052, "referenceAllele": "G", "start": 3051 } ], "gene": "http://reg.genome.network/gene/GN006770", "geneNCBI_id": 4089, "geneSymbol": "SMAD4", "hgvs": [ "ENST00000591126.5:n.3052G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS392668" }, { "coordinates": [ { "allele": "C", "end": 955, "endIntronDirection": "+", "endIntronOffset": 5602, "referenceAllele": "G", "start": 955, "startIntronDirection": "+", "startIntronOffset": 5601 } ], "gene": "http://reg.genome.network/gene/GN006770", "geneNCBI_id": 4089, "geneSymbol": "SMAD4", "hgvs": [ "ENST00000592186.5:c.955+5602G>C" ], "proteinEffect": { "hgvs": "ENSP00000468611.1:n.955+5602G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS393389" }, { "coordinates": [ { "allele": "C", "end": 251, "referenceAllele": "G", "start": 250 } ], "gene": "http://reg.genome.network/gene/GN006770", "geneNCBI_id": 4089, "geneSymbol": "SMAD4", "hgvs": [ "ENST00000611848.1:c.251G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS401041" }, { "@id": "http://reg.genome.network/allele/PA645474849", "coordinates": [ { "allele": "C", "end": 1589, "referenceAllele": "G", "start": 1588 } ], "gene": "http://reg.genome.network/gene/GN006770", "geneNCBI_id": 4089, "geneSymbol": "SMAD4", "hgvs": [ "NM_005359.5:c.1051G>C", "LRG_318t1:c.1051G>C" ], "proteinEffect": { "hgvs": "NP_005350.1:p.Asp351His", "hgvsWellDefined": "NP_005350.1:p.Asp351His" }, "referenceSequence": "http://reg.genome.network/refseq/RS030461" }, { "@id": "http://reg.genome.network/allele/PA645474849", "coordinates": [ { "allele": "C", "end": 1589, "referenceAllele": "G", "start": 1588 } ], "gene": "http://reg.genome.network/gene/GN006770", "geneNCBI_id": 4089, "geneSymbol": "SMAD4", "hgvs": [ "NM_005359.6:c.1051G>C" ], "proteinEffect": { "hgvs": "NP_005350.1:p.Asp351His", "hgvsWellDefined": "NP_005350.1:p.Asp351His" }, "referenceSequence": "http://reg.genome.network/refseq/RS696402", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000342988.8:c.1051G>C" }, "RefSeq": { "hgvs": "NM_005359.6:c.1051G>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000341551.3:p.Asp351His" }, "RefSeq": { "hgvs": "NP_005350.1:p.Asp351His" } } } } ], "type": "nucleotide" }