{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA378425959", "communityStandardTitle": [ "NM_001227.5(CASP7):c.765C>A (p.Asp255Glu)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.115489152C>A?assembly=hg19", "id": "chr10:g.115489152C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.113729393C>A?assembly=hg38", "id": "chr10:g.113729393C>A" } ] }, "genomicAlleles": [ { "chromosome": "10", "coordinates": [ { "allele": "A", "end": 113729393, "referenceAllele": "C", "start": 113729392 } ], "hgvs": [ "NC_000010.11:g.113729393C>A", "CM000672.2:g.113729393C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000058" }, { "chromosome": "10", "coordinates": [ { "allele": "A", "end": 115489152, "referenceAllele": "C", "start": 115489151 } ], "hgvs": [ "NC_000010.10:g.115489152C>A", "CM000672.1:g.115489152C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000034" }, { "chromosome": "10", "coordinates": [ { "allele": "A", "end": 115479142, "referenceAllele": "C", "start": 115479141 } ], "hgvs": [ "NC_000010.9:g.115479142C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000010" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 832, "referenceAllele": "C", "start": 831 } ], "gene": "http://reg.genome.network/gene/GN001508", "geneNCBI_id": 840, "geneSymbol": "CASP7", "hgvs": [ "ENST00000369318.8:c.765C>A" ], "proteinEffect": { "hgvs": "ENSP00000358324.4:p.Asp255Glu", "hgvsWellDefined": "ENSP00000358324.4:p.Asp255Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS750391", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000369318.8:c.765C>A" }, "RefSeq": { "hgvs": "NM_001227.5:c.765C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000358324.4:p.Asp255Glu" }, "RefSeq": { "hgvs": "NP_001218.1:p.Asp255Glu" } } } }, { "coordinates": [ { "allele": "A", "end": 841, "referenceAllele": "C", "start": 840 } ], "gene": "http://reg.genome.network/gene/GN001508", "geneNCBI_id": 840, "geneSymbol": "CASP7", "hgvs": [ "ENST00000672138.1:c.762C>A" ], "proteinEffect": { "hgvs": "ENSP00000500735.1:p.Asp254Glu", "hgvsWellDefined": "ENSP00000500735.1:p.Asp254Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS773286" }, { "coordinates": [ { "allele": "A", "end": 1149, "referenceAllele": "C", "start": 1148 } ], "gene": "http://reg.genome.network/gene/GN001508", "geneNCBI_id": 840, "geneSymbol": "CASP7", "hgvs": [ "ENST00000345633.8:c.765C>A" ], "proteinEffect": { "hgvs": "ENSP00000298701.7:p.Asp255Glu", "hgvsWellDefined": "ENSP00000298701.7:p.Asp255Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS262186" }, { "coordinates": [ { "allele": "A", "end": 911, "referenceAllele": "C", "start": 910 } ], "gene": "http://reg.genome.network/gene/GN001508", "geneNCBI_id": 840, "geneSymbol": "CASP7", "hgvs": [ "ENST00000369315.5:c.765C>A" ], "proteinEffect": { "hgvs": "ENSP00000358321.1:p.Asp255Glu", "hgvsWellDefined": "ENSP00000358321.1:p.Asp255Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS267469" }, { "coordinates": [ { "allele": "A", "end": 867, "referenceAllele": "C", "start": 866 } ], "gene": "http://reg.genome.network/gene/GN001508", "geneNCBI_id": 840, "geneSymbol": "CASP7", "hgvs": [ "ENST00000369318.7:c.765C>A" ], "proteinEffect": { "hgvs": "ENSP00000358324.3:p.Asp255Glu", "hgvsWellDefined": "ENSP00000358324.3:p.Asp255Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS267470" }, { "coordinates": [ { "allele": "A", "end": 1106, "referenceAllele": "C", "start": 1105 } ], "gene": "http://reg.genome.network/gene/GN001508", "geneNCBI_id": 840, "geneSymbol": "CASP7", "hgvs": [ "ENST00000369321.6:c.1020C>A" ], "proteinEffect": { "hgvs": "ENSP00000358327.3:p.Asp340Glu", "hgvsWellDefined": "ENSP00000358327.3:p.Asp340Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS267472" }, { "coordinates": [ { "allele": "A", "end": 877, "referenceAllele": "C", "start": 876 } ], "gene": "http://reg.genome.network/gene/GN001508", "geneNCBI_id": 840, "geneSymbol": "CASP7", "hgvs": [ "ENST00000369331.8:c.731C>A" ], "proteinEffect": { "hgvs": "ENSP00000358337.3:p.Thr244Asn", "hgvsWellDefined": "ENSP00000358337.3:p.Thr244Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS267476" }, { "coordinates": [ { "allele": "A", "end": 757, "referenceAllele": "C", "start": 756 } ], "gene": "http://reg.genome.network/gene/GN001508", "geneNCBI_id": 840, "geneSymbol": "CASP7", "hgvs": [ "ENST00000452490.3:c.690C>A" ], "proteinEffect": { "hgvs": "ENSP00000398107.2:p.Asp230Glu", "hgvsWellDefined": "ENSP00000398107.2:p.Asp230Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS301651" }, { "coordinates": [ { "allele": "A", "end": 689, "referenceAllele": "C", "start": 688 } ], "gene": "http://reg.genome.network/gene/GN001508", "geneNCBI_id": 840, "geneSymbol": "CASP7", "hgvs": [ "ENST00000487232.1:n.689C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS325848" }, { "coordinates": [ { "allele": "A", "end": 1041, "referenceAllele": "C", "start": 1040 } ], "gene": "http://reg.genome.network/gene/GN001508", "geneNCBI_id": 840, "geneSymbol": "CASP7", "hgvs": [ "ENST00000614447.4:c.731C>A" ], "proteinEffect": { "hgvs": "ENSP00000478285.1:p.Thr244Asn", "hgvsWellDefined": "ENSP00000478285.1:p.Thr244Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS402198" }, { "coordinates": [ { "allele": "A", "end": 953, "referenceAllele": "C", "start": 952 } ], "gene": "http://reg.genome.network/gene/GN001508", "geneNCBI_id": 840, "geneSymbol": "CASP7", "hgvs": [ "ENST00000621345.4:c.765C>A" ], "proteinEffect": { "hgvs": "ENSP00000480584.1:p.Asp255Glu", "hgvsWellDefined": "ENSP00000480584.1:p.Asp255Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS405226" }, { "coordinates": [ { "allele": "A", "end": 864, "referenceAllele": "C", "start": 863 } ], "gene": "http://reg.genome.network/gene/GN001508", "geneNCBI_id": 840, "geneSymbol": "CASP7", "hgvs": [ "ENST00000621607.4:c.864C>A" ], "proteinEffect": { "hgvs": "ENSP00000478999.1:p.Asp288Glu", "hgvsWellDefined": "ENSP00000478999.1:p.Asp288Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS405348" }, { "@id": "http://reg.genome.network/allele/PA2826281145", "coordinates": [ { "allele": "A", "end": 1075, "referenceAllele": "C", "start": 1074 } ], "gene": "http://reg.genome.network/gene/GN001508", "geneNCBI_id": 840, "geneSymbol": "CASP7", "hgvs": [ "NM_001227.4:c.765C>A" ], "proteinEffect": { "hgvs": "NP_001218.1:p.Asp255Glu", "hgvsWellDefined": "NP_001218.1:p.Asp255Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS018043" }, { "@id": "http://reg.genome.network/allele/PA2826488952", "coordinates": [ { "allele": "A", "end": 953, "referenceAllele": "C", "start": 952 } ], "gene": "http://reg.genome.network/gene/GN001508", "geneNCBI_id": 840, "geneSymbol": "CASP7", "hgvs": [ "NM_001267056.1:c.765C>A" ], "proteinEffect": { "hgvs": "NP_001253985.1:p.Asp255Glu", "hgvsWellDefined": "NP_001253985.1:p.Asp255Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS020091" }, { "@id": "http://reg.genome.network/allele/PA2826488968", "coordinates": [ { "allele": "A", "end": 1106, "referenceAllele": "C", "start": 1105 } ], "gene": "http://reg.genome.network/gene/GN001508", "geneNCBI_id": 840, "geneSymbol": "CASP7", "hgvs": [ "NM_001267057.1:c.1020C>A" ], "proteinEffect": { "hgvs": "NP_001253986.1:p.Asp340Glu", "hgvsWellDefined": "NP_001253986.1:p.Asp340Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS020092" }, { "@id": "http://reg.genome.network/allele/PA2826488981", "coordinates": [ { "allele": "A", "end": 757, "referenceAllele": "C", "start": 756 } ], "gene": "http://reg.genome.network/gene/GN001508", "geneNCBI_id": 840, "geneSymbol": "CASP7", "hgvs": [ "NM_001267058.1:c.690C>A" ], "proteinEffect": { "hgvs": "NP_001253987.1:p.Asp230Glu", "hgvsWellDefined": "NP_001253987.1:p.Asp230Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS020093" }, { "@id": "http://reg.genome.network/allele/PA2830105969", "coordinates": [ { "allele": "A", "end": 1182, "referenceAllele": "C", "start": 1181 } ], "gene": "http://reg.genome.network/gene/GN001508", "geneNCBI_id": 840, "geneSymbol": "CASP7", "hgvs": [ "NM_033338.5:c.864C>A" ], "proteinEffect": { "hgvs": "NP_203124.1:p.Asp288Glu", "hgvsWellDefined": "NP_203124.1:p.Asp288Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS039686" }, { "@id": "http://reg.genome.network/allele/PA2830105994", "coordinates": [ { "allele": "A", "end": 1149, "referenceAllele": "C", "start": 1148 } ], "gene": "http://reg.genome.network/gene/GN001508", "geneNCBI_id": 840, "geneSymbol": "CASP7", "hgvs": [ "NM_033339.4:c.765C>A" ], "proteinEffect": { "hgvs": "NP_203125.1:p.Asp255Glu", "hgvsWellDefined": "NP_203125.1:p.Asp255Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS039687" }, { "coordinates": [ { "allele": "A", "end": 919, "referenceAllele": "C", "start": 918 } ], "gene": "http://reg.genome.network/gene/GN001508", "geneNCBI_id": 840, "geneSymbol": "CASP7", "hgvs": [ "NM_033340.3:c.731C>A" ], "proteinEffect": { "hgvs": "NP_203126.1:p.Thr244Asn", "hgvsWellDefined": "NP_203126.1:p.Thr244Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS039688" }, { "coordinates": [ { "allele": "A", "end": 885, "referenceAllele": "C", "start": 884 } ], "gene": "http://reg.genome.network/gene/GN001508", "geneNCBI_id": 840, "geneSymbol": "CASP7", "hgvs": [ "XM_006718017.2:c.807C>A" ], "proteinEffect": { "hgvs": "XP_006718080.1:p.Asp269Glu", "hgvsWellDefined": "XP_006718080.1:p.Asp269Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS072435" }, { "coordinates": [ { "allele": "A", "end": 981, "referenceAllele": "C", "start": 980 } ], "gene": "http://reg.genome.network/gene/GN001508", "geneNCBI_id": 840, "geneSymbol": "CASP7", "hgvs": [ "XM_006718018.1:c.789C>A" ], "proteinEffect": { "hgvs": "XP_006718081.1:p.Asp263Glu", "hgvsWellDefined": "XP_006718081.1:p.Asp263Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS072436" }, { "coordinates": [ { "allele": "A", "end": 875, "referenceAllele": "C", "start": 874 } ], "gene": "http://reg.genome.network/gene/GN001508", "geneNCBI_id": 840, "geneSymbol": "CASP7", "hgvs": [ "XM_011540259.1:c.864C>A" ], "proteinEffect": { "hgvs": "XP_011538561.1:p.Asp288Glu", "hgvsWellDefined": "XP_011538561.1:p.Asp288Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS107208" }, { "coordinates": [ { "allele": "A", "end": 1105, "referenceAllele": "C", "start": 1104 } ], "gene": "http://reg.genome.network/gene/GN001508", "geneNCBI_id": 840, "geneSymbol": "CASP7", "hgvs": [ "XM_011540260.1:c.666C>A" ], "proteinEffect": { "hgvs": "XP_011538562.1:p.Asp222Glu", "hgvsWellDefined": "XP_011538562.1:p.Asp222Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS107209" }, { "@id": "http://reg.genome.network/allele/PA2827060113", "coordinates": [ { "allele": "A", "end": 984, "referenceAllele": "C", "start": 983 } ], "gene": "http://reg.genome.network/gene/GN001508", "geneNCBI_id": 840, "geneSymbol": "CASP7", "hgvs": [ "NM_001320911.1:c.789C>A" ], "proteinEffect": { "hgvs": "NP_001307840.1:p.Asp263Glu", "hgvsWellDefined": "NP_001307840.1:p.Asp263Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS513895" }, { "coordinates": [ { "allele": "A", "end": 886, "referenceAllele": "C", "start": 885 } ], "gene": "http://reg.genome.network/gene/GN001508", "geneNCBI_id": 840, "geneSymbol": "CASP7", "hgvs": [ "XM_006718017.3:c.807C>A" ], "proteinEffect": { "hgvs": "XP_006718080.1:p.Asp269Glu", "hgvsWellDefined": "XP_006718080.1:p.Asp269Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS539534" }, { "coordinates": [ { "allele": "A", "end": 1133, "referenceAllele": "C", "start": 1132 } ], "gene": "http://reg.genome.network/gene/GN001508", "geneNCBI_id": 840, "geneSymbol": "CASP7", "hgvs": [ "XM_017016763.1:c.822C>A" ], "proteinEffect": { "hgvs": "XP_016872252.1:p.Asp274Glu", "hgvsWellDefined": "XP_016872252.1:p.Asp274Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS569117" }, { "coordinates": [ { "allele": "A", "end": 900, "referenceAllele": "C", "start": 899 } ], "gene": "http://reg.genome.network/gene/GN001508", "geneNCBI_id": 840, "geneSymbol": "CASP7", "hgvs": [ "XM_017016764.1:c.789C>A" ], "proteinEffect": { "hgvs": "XP_016872253.1:p.Asp263Glu", "hgvsWellDefined": "XP_016872253.1:p.Asp263Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS569118" }, { "@id": "http://reg.genome.network/allele/PA2826281145", "coordinates": [ { "allele": "A", "end": 832, "referenceAllele": "C", "start": 831 } ], "gene": "http://reg.genome.network/gene/GN001508", "geneNCBI_id": 840, "geneSymbol": "CASP7", "hgvs": [ "NM_001227.5:c.765C>A" ], "proteinEffect": { "hgvs": "NP_001218.1:p.Asp255Glu", "hgvsWellDefined": "NP_001218.1:p.Asp255Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS680042", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000369318.8:c.765C>A" }, "RefSeq": { "hgvs": "NM_001227.5:c.765C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000358324.4:p.Asp255Glu" }, "RefSeq": { "hgvs": "NP_001218.1:p.Asp255Glu" } } } }, { "@id": "http://reg.genome.network/allele/PA2827060113", "coordinates": [ { "allele": "A", "end": 952, "referenceAllele": "C", "start": 951 } ], "gene": "http://reg.genome.network/gene/GN001508", "geneNCBI_id": 840, "geneSymbol": "CASP7", "hgvs": [ "NM_001320911.2:c.789C>A" ], "proteinEffect": { "hgvs": "NP_001307840.1:p.Asp263Glu", "hgvsWellDefined": "NP_001307840.1:p.Asp263Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS685109" }, { "@id": "http://reg.genome.network/allele/PA2830105969", "coordinates": [ { "allele": "A", "end": 939, "referenceAllele": "C", "start": 938 } ], "gene": "http://reg.genome.network/gene/GN001508", "geneNCBI_id": 840, "geneSymbol": "CASP7", "hgvs": [ "NM_033338.6:c.864C>A" ], "proteinEffect": { "hgvs": "NP_203124.1:p.Asp288Glu", "hgvsWellDefined": "NP_203124.1:p.Asp288Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS699334" }, { "@id": "http://reg.genome.network/allele/PA2830105994", "coordinates": [ { "allele": "A", "end": 906, "referenceAllele": "C", "start": 905 } ], "gene": "http://reg.genome.network/gene/GN001508", "geneNCBI_id": 840, "geneSymbol": "CASP7", "hgvs": [ "NM_033339.5:c.765C>A" ], "proteinEffect": { "hgvs": "NP_203125.1:p.Asp255Glu", "hgvsWellDefined": "NP_203125.1:p.Asp255Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS699335" }, { "coordinates": [ { "allele": "A", "end": 887, "referenceAllele": "C", "start": 886 } ], "gene": "http://reg.genome.network/gene/GN001508", "geneNCBI_id": 840, "geneSymbol": "CASP7", "hgvs": [ "NM_033340.4:c.731C>A" ], "proteinEffect": { "hgvs": "NP_203126.1:p.Thr244Asn", "hgvsWellDefined": "NP_203126.1:p.Thr244Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS699336" }, { "@id": "http://reg.genome.network/allele/PA2826488952", "coordinates": [ { "allele": "A", "end": 921, "referenceAllele": "C", "start": 920 } ], "gene": "http://reg.genome.network/gene/GN001508", "geneNCBI_id": 840, "geneSymbol": "CASP7", "hgvs": [ "NM_001267056.2:c.765C>A" ], "proteinEffect": { "hgvs": "NP_001253985.1:p.Asp255Glu", "hgvsWellDefined": "NP_001253985.1:p.Asp255Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS715064" }, { "@id": "http://reg.genome.network/allele/PA2826488981", "coordinates": [ { "allele": "A", "end": 724, "referenceAllele": "C", "start": 723 } ], "gene": "http://reg.genome.network/gene/GN001508", "geneNCBI_id": 840, "geneSymbol": "CASP7", "hgvs": [ "NM_001267058.2:c.690C>A" ], "proteinEffect": { "hgvs": "NP_001253987.1:p.Asp230Glu", "hgvsWellDefined": "NP_001253987.1:p.Asp230Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS715065" } ], "type": "nucleotide" }