{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA341151", "communityStandardTitle": [ "NM_002769.5(PRSS1):c.365G>A (p.Arg122His)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=26915[alleleid]", "alleleId": 26915, "preferredName": "NM_002769.5(PRSS1):c.365G>A (p.Arg122His)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/11876", "RCV": [ "RCV000012651", "RCV000487005", "RCV003944816" ], "variationId": 11876 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/7-142459789-G-A", "id": "7-142459789-G-A", "variant": "7:142459789 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.142459789G>A?assembly=hg19", "id": "chr7:g.142459789G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.142751938G>A?assembly=hg38", "id": "chr7:g.142751938G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/111033565", "rs": 111033565 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/7-142459789-G-A?dataset=gnomad_r2_1", "id": "7-142459789-G-A", "variant": "7:142459789 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/7-142751938-G-A?dataset=gnomad_r3", "id": "7-142751938-G-A", "variant": "7:142751938 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/7-142751938-G-A?dataset=gnomad_r4", "id": "7-142751938-G-A", "variant": "7:142751938 G / A" } ] }, "genomicAlleles": [ { "chromosome": "7", "coordinates": [ { "allele": "A", "end": 142751938, "referenceAllele": "G", "start": 142751937 } ], "hgvs": [ "NC_000007.14:g.142751938G>A", "CM000669.2:g.142751938G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000055" }, { "chromosome": "7", "coordinates": [ { "allele": "A", "end": 142459789, "referenceAllele": "G", "start": 142459788 } ], "hgvs": [ "NC_000007.13:g.142459789G>A", "CM000669.1:g.142459789G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000031" }, { "chromosome": "7", "coordinates": [ { "allele": "A", "end": 142139363, "referenceAllele": "G", "start": 142139362 } ], "hgvs": [ "NC_000007.12:g.142139363G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000007" }, { "coordinates": [ { "allele": "A", "end": 7455, "referenceAllele": "G", "start": 7454 } ], "hgvs": [ "NG_008307.3:g.7455G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001017" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 378, "referenceAllele": "G", "start": 377 } ], "gene": "http://reg.genome.network/gene/GN009475", "geneNCBI_id": 5644, "geneSymbol": "PRSS1", "hgvs": [ "ENST00000311737.12:c.365G>A" ], "proteinEffect": { "hgvs": "ENSP00000308720.7:p.Arg122His", "hgvsWellDefined": "ENSP00000308720.7:p.Arg122His" }, "referenceSequence": "http://reg.genome.network/refseq/RS745740", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000311737.12:c.365G>A" }, "RefSeq": { "hgvs": "NM_002769.5:c.365G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000308720.7:p.Arg122His" }, "RefSeq": { "hgvs": "NP_002760.1:p.Arg122His" } } } }, { "coordinates": [ { "allele": "A", "end": 371, "referenceAllele": "G", "start": 370 } ], "gene": "http://reg.genome.network/gene/GN009475", "geneNCBI_id": 5644, "geneSymbol": "PRSS1", "hgvs": [ "ENST00000311737.11:c.365G>A" ], "proteinEffect": { "hgvs": "ENSP00000308720.7:p.Arg122His", "hgvsWellDefined": "ENSP00000308720.7:p.Arg122His" }, "referenceSequence": "http://reg.genome.network/refseq/RS256572" }, { "coordinates": [ { "allele": "A", "end": 829, "referenceAllele": "G", "start": 828 } ], "gene": "http://reg.genome.network/gene/GN009475", "geneNCBI_id": 5644, "geneSymbol": "PRSS1", "hgvs": [ "ENST00000463701.1:n.829G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS307682" }, { "coordinates": [ { "allele": "A", "end": 1363, "referenceAllele": "G", "start": 1362 } ], "gene": "http://reg.genome.network/gene/GN009475", "geneNCBI_id": 5644, "geneSymbol": "PRSS1", "hgvs": [ "ENST00000485223.1:n.1363G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS324308" }, { "coordinates": [ { "allele": "A", "end": 424, "referenceAllele": "G", "start": 423 } ], "gene": "http://reg.genome.network/gene/GN009475", "geneNCBI_id": 5644, "geneSymbol": "PRSS1", "hgvs": [ "ENST00000486171.5:c.407G>A" ], "proteinEffect": { "hgvs": "ENSP00000417854.1:p.Arg136His", "hgvsWellDefined": "ENSP00000417854.1:p.Arg136His" }, "referenceSequence": "http://reg.genome.network/refseq/RS325043" }, { "coordinates": [ { "allele": "A", "end": 215, "referenceAllele": "G", "start": 214 } ], "gene": "http://reg.genome.network/gene/GN009475", "geneNCBI_id": 5644, "geneSymbol": "PRSS1", "hgvs": [ "ENST00000492062.1:c.215G>A" ], "proteinEffect": { "hgvs": "ENSP00000419912.1:p.Arg72His", "hgvsWellDefined": "ENSP00000419912.1:p.Arg72His" }, "referenceSequence": "http://reg.genome.network/refseq/RS329525" }, { "coordinates": [ { "allele": "A", "end": 380, "endIntronDirection": "+", "endIntronOffset": 30752, "referenceAllele": "G", "start": 380, "startIntronDirection": "+", "startIntronOffset": 30751 } ], "gene": "http://reg.genome.network/gene/GN012156", "geneNCBI_id": 28639, "geneSymbol": "TRBC1", "hgvs": [ "ENST00000610416.2:c.370+30752G>A" ], "proteinEffect": { "hgvs": "ENSP00000482915.1:n.370+30752G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS400412" }, { "coordinates": [ { "allele": "A", "end": 371, "referenceAllele": "G", "start": 370 } ], "gene": "http://reg.genome.network/gene/GN009475", "geneNCBI_id": 5644, "geneSymbol": "PRSS1", "hgvs": [ "ENST00000612126.4:c.365G>A" ], "proteinEffect": { "hgvs": "ENSP00000479959.1:p.Arg122His", "hgvsWellDefined": "ENSP00000479959.1:p.Arg122His" }, "referenceSequence": "http://reg.genome.network/refseq/RS401168" }, { "coordinates": [ { "allele": "A", "end": 352, "referenceAllele": "G", "start": 351 } ], "gene": "http://reg.genome.network/gene/GN009475", "geneNCBI_id": 5644, "geneSymbol": "PRSS1", "hgvs": [ "ENST00000619214.4:c.335G>A" ], "proteinEffect": { "hgvs": "ENSP00000481361.1:p.Arg112His", "hgvsWellDefined": "ENSP00000481361.1:p.Arg112His" }, "referenceSequence": "http://reg.genome.network/refseq/RS404279" }, { "coordinates": [ { "allele": "A", "end": 327, "endIntronDirection": "+", "endIntronOffset": 44, "referenceAllele": "G", "start": 327, "startIntronDirection": "+", "startIntronOffset": 43 } ], "gene": "http://reg.genome.network/gene/GN009483", "geneNCBI_id": 5645, "geneSymbol": "PRSS2", "hgvs": [ "ENST00000633114.1:c.321+44G>A" ], "proteinEffect": { "hgvs": "ENSP00000487822.1:n.321+44G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS407644" }, { "coordinates": [ { "allele": "A", "end": 130, "endIntronDirection": "+", "endIntronOffset": 3147, "referenceAllele": "G", "start": 130, "startIntronDirection": "+", "startIntronOffset": 3146 } ], "gene": "http://reg.genome.network/gene/GN009483", "geneNCBI_id": 5645, "geneSymbol": "PRSS2", "hgvs": [ "ENST00000634019.1:c.82+3147G>A" ], "proteinEffect": { "hgvs": "ENSP00000488594.1:n.82+3147G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS407728" }, { "@id": "http://reg.genome.network/allele/PA107092", "coordinates": [ { "allele": "A", "end": 382, "referenceAllele": "G", "start": 381 } ], "gene": "http://reg.genome.network/gene/GN009475", "geneNCBI_id": 5644, "geneSymbol": "PRSS1", "hgvs": [ "NM_002769.4:c.365G>A" ], "proteinEffect": { "hgvs": "NP_002760.1:p.Arg122His", "hgvsWellDefined": "NP_002760.1:p.Arg122His" }, "referenceSequence": "http://reg.genome.network/refseq/RS028055" }, { "coordinates": [ { "allele": "A", "end": 1078, "referenceAllele": "G", "start": 1077 } ], "gene": "http://reg.genome.network/gene/GN009475", "geneNCBI_id": 5644, "geneSymbol": "PRSS1", "hgvs": [ "XM_011516411.1:c.1040G>A" ], "proteinEffect": { "hgvs": "XP_011514713.1:p.Arg347His", "hgvsWellDefined": "XP_011514713.1:p.Arg347His" }, "referenceSequence": "http://reg.genome.network/refseq/RS083613" }, { "@id": "http://reg.genome.network/allele/PA107092", "coordinates": [ { "allele": "A", "end": 378, "referenceAllele": "G", "start": 377 } ], "gene": "http://reg.genome.network/gene/GN009475", "geneNCBI_id": 5644, "geneSymbol": "PRSS1", "hgvs": [ "NM_002769.5:c.365G>A" ], "proteinEffect": { "hgvs": "NP_002760.1:p.Arg122His", "hgvsWellDefined": "NP_002760.1:p.Arg122His" }, "referenceSequence": "http://reg.genome.network/refseq/RS665696", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000311737.12:c.365G>A" }, "RefSeq": { "hgvs": "NM_002769.5:c.365G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000308720.7:p.Arg122His" }, "RefSeq": { "hgvs": "NP_002760.1:p.Arg122His" } } } }, { "coordinates": [ { "allele": "A", "end": 307, "referenceAllele": "G", "start": 306 } ], "gene": "http://reg.genome.network/gene/GN009475", "geneNCBI_id": 5644, "geneSymbol": "PRSS1", "hgvs": [ "NR_172947.1:n.307G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS784686" }, { "coordinates": [ { "allele": "A", "end": 304, "referenceAllele": "G", "start": 303 } ], "gene": "http://reg.genome.network/gene/GN009475", "geneNCBI_id": 5644, "geneSymbol": "PRSS1", "hgvs": [ "NR_172948.1:n.304G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS784687" }, { "coordinates": [ { "allele": "A", "end": 304, "referenceAllele": "G", "start": 303 } ], "gene": "http://reg.genome.network/gene/GN009475", "geneNCBI_id": 5644, "geneSymbol": "PRSS1", "hgvs": [ "NR_172949.1:n.304G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS784688" }, { "coordinates": [ { "allele": "A", "end": 218, "referenceAllele": "G", "start": 217 } ], "gene": "http://reg.genome.network/gene/GN009475", "geneNCBI_id": 5644, "geneSymbol": "PRSS1", "hgvs": [ "NR_172950.1:n.218G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS784689" }, { "coordinates": [ { "allele": "A", "end": 152, "referenceAllele": "G", "start": 151 } ], "gene": "http://reg.genome.network/gene/GN009475", "geneNCBI_id": 5644, "geneSymbol": "PRSS1", "hgvs": [ "NR_172951.1:n.152G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS784690" } ], "type": "nucleotide" }