{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA113870", "communityStandardTitle": [ "NM_001193315.2(VIPAS39):c.2T>G (p.Met1Arg)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=15154[alleleid]", "alleleId": 15154, "preferredName": "NM_001193315.2(VIPAS39):c.2T>G (p.Met1Arg)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/115", "RCV": [ "RCV000000135" ], "variationId": 115 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr14:g.77920444A>C?assembly=hg19", "id": "chr14:g.77920444A>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr14:g.77454101A>C?assembly=hg38", "id": "chr14:g.77454101A>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/267607172", "rs": 267607172 } ] }, "genomicAlleles": [ { "chromosome": "14", "coordinates": [ { "allele": "C", "end": 77454101, "referenceAllele": "A", "start": 77454100 } ], "hgvs": [ "NC_000014.9:g.77454101A>C", "CM000676.2:g.77454101A>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000062" }, { "chromosome": "14", "coordinates": [ { "allele": "C", "end": 77920444, "referenceAllele": "A", "start": 77920443 } ], "hgvs": [ "NC_000014.8:g.77920444A>C", "CM000676.1:g.77920444A>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000038" }, { "chromosome": "14", "coordinates": [ { "allele": "C", "end": 76990197, "referenceAllele": "A", "start": 76990196 } ], "hgvs": [ "NC_000014.7:g.76990197A>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000014" }, { "coordinates": [ { "allele": "G", "end": 8540, "referenceAllele": "T", "start": 8539 } ], "hgvs": [ "NG_023421.1:g.8540T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS003854" }, { "coordinates": [ { "allele": "G", "end": 8540, "referenceAllele": "T", "start": 8539 } ], "hgvs": [ "NG_023421.2:g.8540T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS733349" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 109, "referenceAllele": "T", "start": 108 } ], "gene": "http://reg.genome.network/gene/GN020347", "geneNCBI_id": 63894, "geneSymbol": "VIPAS39", "hgvs": [ "ENST00000557658.6:c.2T>G" ], "proteinEffect": { "hgvs": "ENSP00000452191.1:p.Met1Arg", "hgvsWellDefined": "ENSP00000452191.1:p.Met1Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS760216", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000557658.6:c.2T>G" }, "RefSeq": { "hgvs": "NM_001193315.2:c.2T>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000452191.1:p.Met1Arg" }, "RefSeq": { "hgvs": "NP_001180244.1:p.Met1Arg" } } } }, { "coordinates": [ { "allele": "G", "end": 340, "referenceAllele": "T", "start": 339 } ], "gene": "http://reg.genome.network/gene/GN020347", "geneNCBI_id": 63894, "geneSymbol": "VIPAS39", "hgvs": [ "ENST00000327028.8:c.2T>G" ], "proteinEffect": { "hgvs": "ENSP00000313098.5:p.Met1Arg", "hgvsWellDefined": "ENSP00000313098.5:p.Met1Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS258703" }, { "coordinates": [ { "allele": "G", "end": 340, "referenceAllele": "T", "start": 339 } ], "gene": "http://reg.genome.network/gene/GN020347", "geneNCBI_id": 63894, "geneSymbol": "VIPAS39", "hgvs": [ "ENST00000343765.6:c.2T>G" ], "proteinEffect": { "hgvs": "ENSP00000339122.2:p.Met1Arg", "hgvsWellDefined": "ENSP00000339122.2:p.Met1Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS261828" }, { "coordinates": [ { "allele": "G", "end": 94, "referenceAllele": "T", "start": 93 } ], "gene": "http://reg.genome.network/gene/GN020347", "geneNCBI_id": 63894, "geneSymbol": "VIPAS39", "hgvs": [ "ENST00000448935.6:c.2T>G" ], "proteinEffect": { "hgvs": "ENSP00000404815.2:p.Met1Arg", "hgvsWellDefined": "ENSP00000404815.2:p.Met1Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS299963" }, { "coordinates": [ { "allele": "G", "end": 513, "referenceAllele": "T", "start": 512 } ], "gene": "http://reg.genome.network/gene/GN020347", "geneNCBI_id": 63894, "geneSymbol": "VIPAS39", "hgvs": [ "ENST00000553888.5:c.2T>G" ], "proteinEffect": { "hgvs": "ENSP00000452181.1:p.Met1Arg", "hgvsWellDefined": "ENSP00000452181.1:p.Met1Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS370210" }, { "coordinates": [ { "allele": "G", "end": 250, "referenceAllele": "T", "start": 249 } ], "gene": "http://reg.genome.network/gene/GN020347", "geneNCBI_id": 63894, "geneSymbol": "VIPAS39", "hgvs": [ "ENST00000556412.4:c.80T>G" ], "proteinEffect": { "hgvs": "ENSP00000451857.1:p.Met27Arg", "hgvsWellDefined": "ENSP00000451857.1:p.Met27Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS372199" }, { "coordinates": [ { "allele": "G", "end": 399, "referenceAllele": "T", "start": 398 } ], "gene": "http://reg.genome.network/gene/GN020347", "geneNCBI_id": 63894, "geneSymbol": "VIPAS39", "hgvs": [ "ENST00000557466.1:c.2T>G" ], "proteinEffect": { "hgvs": "ENSP00000452176.1:p.Met1Arg", "hgvsWellDefined": "ENSP00000452176.1:p.Met1Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS373054" }, { "coordinates": [ { "allele": "G", "end": 148, "referenceAllele": "T", "start": 147 } ], "gene": "http://reg.genome.network/gene/GN020347", "geneNCBI_id": 63894, "geneSymbol": "VIPAS39", "hgvs": [ "ENST00000557658.5:c.2T>G" ], "proteinEffect": { "hgvs": "ENSP00000452191.1:p.Met1Arg", "hgvsWellDefined": "ENSP00000452191.1:p.Met1Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS373211" }, { "@id": "http://reg.genome.network/allele/PA2826178006", "coordinates": [ { "allele": "G", "end": 548, "referenceAllele": "T", "start": 547 } ], "gene": "http://reg.genome.network/gene/GN020347", "geneNCBI_id": 63894, "geneSymbol": "VIPAS39", "hgvs": [ "NM_001193314.1:c.2T>G" ], "proteinEffect": { "hgvs": "NP_001180243.1:p.Met1Arg", "hgvsWellDefined": "NP_001180243.1:p.Met1Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS016344" }, { "@id": "http://reg.genome.network/allele/PA113871", "coordinates": [ { "allele": "G", "end": 148, "referenceAllele": "T", "start": 147 } ], "gene": "http://reg.genome.network/gene/GN020347", "geneNCBI_id": 63894, "geneSymbol": "VIPAS39", "hgvs": [ "NM_001193315.1:c.2T>G" ], "proteinEffect": { "hgvs": "NP_001180244.1:p.Met1Arg", "hgvsWellDefined": "NP_001180244.1:p.Met1Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS016345" }, { "@id": "http://reg.genome.network/allele/PA2826178254", "coordinates": [ { "allele": "G", "end": 148, "referenceAllele": "T", "start": 147 } ], "gene": "http://reg.genome.network/gene/GN020347", "geneNCBI_id": 63894, "geneSymbol": "VIPAS39", "hgvs": [ "NM_001193316.1:c.2T>G" ], "proteinEffect": { "hgvs": "NP_001180245.1:p.Met1Arg", "hgvsWellDefined": "NP_001180245.1:p.Met1Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS016346" }, { "@id": "http://reg.genome.network/allele/PA2826178367", "coordinates": [ { "allele": "G", "end": 325, "referenceAllele": "T", "start": 324 } ], "gene": "http://reg.genome.network/gene/GN020347", "geneNCBI_id": 63894, "geneSymbol": "VIPAS39", "hgvs": [ "NM_001193317.1:c.2T>G" ], "proteinEffect": { "hgvs": "NP_001180246.1:p.Met1Arg", "hgvsWellDefined": "NP_001180246.1:p.Met1Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS016347" }, { "@id": "http://reg.genome.network/allele/PA113872", "coordinates": [ { "allele": "G", "end": 419, "referenceAllele": "T", "start": 418 } ], "gene": "http://reg.genome.network/gene/GN020347", "geneNCBI_id": 63894, "geneSymbol": "VIPAS39", "hgvs": [ "NM_022067.3:c.2T>G" ], "proteinEffect": { "hgvs": "NP_071350.2:p.Met1Arg", "hgvsWellDefined": "NP_071350.2:p.Met1Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS037170" }, { "coordinates": [ { "allele": "G", "end": 139, "referenceAllele": "T", "start": 138 } ], "gene": "http://reg.genome.network/gene/GN020347", "geneNCBI_id": 63894, "geneSymbol": "VIPAS39", "hgvs": [ "XM_011537066.1:c.2T>G" ], "proteinEffect": { "hgvs": "XP_011535368.1:p.Met1Arg", "hgvsWellDefined": "XP_011535368.1:p.Met1Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS104036" }, { "coordinates": [ { "allele": "G", "end": 126, "referenceAllele": "T", "start": 125 } ], "gene": "http://reg.genome.network/gene/GN020347", "geneNCBI_id": 63894, "geneSymbol": "VIPAS39", "hgvs": [ "XM_011537066.2:c.2T>G" ], "proteinEffect": { "hgvs": "XP_011535368.1:p.Met1Arg", "hgvsWellDefined": "XP_011535368.1:p.Met1Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS552739" }, { "coordinates": [ { "allele": "G", "end": 124, "referenceAllele": "T", "start": 123 } ], "gene": "http://reg.genome.network/gene/GN020347", "geneNCBI_id": 63894, "geneSymbol": "VIPAS39", "hgvs": [ "XM_017021580.2:c.2T>G" ], "proteinEffect": { "hgvs": "XP_016877069.1:p.Met1Arg", "hgvsWellDefined": "XP_016877069.1:p.Met1Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS572737" }, { "coordinates": [ { "allele": "G", "end": 506, "referenceAllele": "T", "start": 505 } ], "gene": "http://reg.genome.network/gene/GN020347", "geneNCBI_id": 63894, "geneSymbol": "VIPAS39", "hgvs": [ "XM_017021581.2:c.2T>G" ], "proteinEffect": { "hgvs": "XP_016877070.1:p.Met1Arg", "hgvsWellDefined": "XP_016877070.1:p.Met1Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS572738" }, { "coordinates": [ { "allele": "G", "end": 506, "referenceAllele": "T", "start": 505 } ], "gene": "http://reg.genome.network/gene/GN020347", "geneNCBI_id": 63894, "geneSymbol": "VIPAS39", "hgvs": [ "XM_024449688.1:c.2T>G" ], "proteinEffect": { "hgvs": "XP_024305456.1:p.Met1Arg", "hgvsWellDefined": "XP_024305456.1:p.Met1Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS583235" }, { "coordinates": [ { "allele": "G", "end": 124, "referenceAllele": "T", "start": 123 } ], "gene": "http://reg.genome.network/gene/GN020347", "geneNCBI_id": 63894, "geneSymbol": "VIPAS39", "hgvs": [ "XR_001750501.2:n.124T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS597758" }, { "@id": "http://reg.genome.network/allele/PA2826178006", "coordinates": [ { "allele": "G", "end": 509, "referenceAllele": "T", "start": 508 } ], "gene": "http://reg.genome.network/gene/GN020347", "geneNCBI_id": 63894, "geneSymbol": "VIPAS39", "hgvs": [ "NM_001193314.2:c.2T>G" ], "proteinEffect": { "hgvs": "NP_001180243.1:p.Met1Arg", "hgvsWellDefined": "NP_001180243.1:p.Met1Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS679192" }, { "@id": "http://reg.genome.network/allele/PA2826178254", "coordinates": [ { "allele": "G", "end": 109, "referenceAllele": "T", "start": 108 } ], "gene": "http://reg.genome.network/gene/GN020347", "geneNCBI_id": 63894, "geneSymbol": "VIPAS39", "hgvs": [ "NM_001193316.2:c.2T>G" ], "proteinEffect": { "hgvs": "NP_001180245.1:p.Met1Arg", "hgvsWellDefined": "NP_001180245.1:p.Met1Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS679193" }, { "@id": "http://reg.genome.network/allele/PA2826178367", "coordinates": [ { "allele": "G", "end": 286, "referenceAllele": "T", "start": 285 } ], "gene": "http://reg.genome.network/gene/GN020347", "geneNCBI_id": 63894, "geneSymbol": "VIPAS39", "hgvs": [ "NM_001193317.2:c.2T>G" ], "proteinEffect": { "hgvs": "NP_001180246.1:p.Met1Arg", "hgvsWellDefined": "NP_001180246.1:p.Met1Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS679194" }, { "@id": "http://reg.genome.network/allele/PA113872", "coordinates": [ { "allele": "G", "end": 380, "referenceAllele": "T", "start": 379 } ], "gene": "http://reg.genome.network/gene/GN020347", "geneNCBI_id": 63894, "geneSymbol": "VIPAS39", "hgvs": [ "NM_022067.4:c.2T>G" ], "proteinEffect": { "hgvs": "NP_071350.2:p.Met1Arg", "hgvsWellDefined": "NP_071350.2:p.Met1Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS698492" }, { "@id": "http://reg.genome.network/allele/PA113871", "coordinates": [ { "allele": "G", "end": 109, "referenceAllele": "T", "start": 108 } ], "gene": "http://reg.genome.network/gene/GN020347", "geneNCBI_id": 63894, "geneSymbol": "VIPAS39", "hgvs": [ "NM_001193315.2:c.2T>G" ], "proteinEffect": { "hgvs": "NP_001180244.1:p.Met1Arg", "hgvsWellDefined": "NP_001180244.1:p.Met1Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS713725", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000557658.6:c.2T>G" }, "RefSeq": { "hgvs": "NM_001193315.2:c.2T>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000452191.1:p.Met1Arg" }, "RefSeq": { "hgvs": "NP_001180244.1:p.Met1Arg" } } } }, { "coordinates": [ { "allele": "G", "end": 380, "referenceAllele": "T", "start": 379 } ], "gene": "http://reg.genome.network/gene/GN020347", "geneNCBI_id": 63894, "geneSymbol": "VIPAS39", "hgvs": [ "NM_001400324.1:c.2T>G" ], "proteinEffect": { "hgvs": "NP_001387253.1:p.Met1Arg", "hgvsWellDefined": "NP_001387253.1:p.Met1Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS783676" }, { "coordinates": [ { "allele": "G", "end": 509, "referenceAllele": "T", "start": 508 } ], "gene": "http://reg.genome.network/gene/GN020347", "geneNCBI_id": 63894, "geneSymbol": "VIPAS39", "hgvs": [ "NM_001400325.1:c.2T>G" ], "proteinEffect": { "hgvs": "NP_001387254.1:p.Met1Arg", "hgvsWellDefined": "NP_001387254.1:p.Met1Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS783677" }, { "coordinates": [ { "allele": "G", "end": 428, "referenceAllele": "T", "start": 427 } ], "gene": "http://reg.genome.network/gene/GN020347", "geneNCBI_id": 63894, "geneSymbol": "VIPAS39", "hgvs": [ "NM_001400326.1:c.2T>G" ], "proteinEffect": { "hgvs": "NP_001387255.1:p.Met1Arg", "hgvsWellDefined": "NP_001387255.1:p.Met1Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS783678" }, { "coordinates": [ { "allele": "G", "end": 109, "referenceAllele": "T", "start": 108 } ], "gene": "http://reg.genome.network/gene/GN020347", "geneNCBI_id": 63894, "geneSymbol": "VIPAS39", "hgvs": [ "NM_001400327.1:c.2T>G" ], "proteinEffect": { "hgvs": "NP_001387256.1:p.Met1Arg", "hgvsWellDefined": "NP_001387256.1:p.Met1Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS783679" }, { "coordinates": [ { "allele": "G", "end": 109, "referenceAllele": "T", "start": 108 } ], "gene": "http://reg.genome.network/gene/GN020347", "geneNCBI_id": 63894, "geneSymbol": "VIPAS39", "hgvs": [ "NM_001400330.1:c.2T>G" ], "proteinEffect": { "hgvs": "NP_001387259.1:p.Met1Arg", "hgvsWellDefined": "NP_001387259.1:p.Met1Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS783682" }, { "coordinates": [ { "allele": "G", "end": 509, "referenceAllele": "T", "start": 508 } ], "gene": "http://reg.genome.network/gene/GN020347", "geneNCBI_id": 63894, "geneSymbol": "VIPAS39", "hgvs": [ "NM_001400331.1:c.2T>G" ], "proteinEffect": { "hgvs": "NP_001387260.1:p.Met1Arg", "hgvsWellDefined": "NP_001387260.1:p.Met1Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS783683" }, { "coordinates": [ { "allele": "G", "end": 380, "referenceAllele": "T", "start": 379 } ], "gene": "http://reg.genome.network/gene/GN020347", "geneNCBI_id": 63894, "geneSymbol": "VIPAS39", "hgvs": [ "NM_001400332.1:c.2T>G" ], "proteinEffect": { "hgvs": "NP_001387261.1:p.Met1Arg", "hgvsWellDefined": "NP_001387261.1:p.Met1Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS783684" }, { "coordinates": [ { "allele": "G", "end": 109, "referenceAllele": "T", "start": 108 } ], "gene": "http://reg.genome.network/gene/GN020347", "geneNCBI_id": 63894, "geneSymbol": "VIPAS39", "hgvs": [ "NM_001400333.1:c.2T>G" ], "proteinEffect": { "hgvs": "NP_001387262.1:p.Met1Arg", "hgvsWellDefined": "NP_001387262.1:p.Met1Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS783685" }, { "coordinates": [ { "allele": "G", "end": 380, "referenceAllele": "T", "start": 379 } ], "gene": "http://reg.genome.network/gene/GN020347", "geneNCBI_id": 63894, "geneSymbol": "VIPAS39", "hgvs": [ "NM_001400334.1:c.2T>G" ], "proteinEffect": { "hgvs": "NP_001387263.1:p.Met1Arg", "hgvsWellDefined": "NP_001387263.1:p.Met1Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS783686" }, { "coordinates": [ { "allele": "G", "end": 109, "referenceAllele": "T", "start": 108 } ], "gene": "http://reg.genome.network/gene/GN020347", "geneNCBI_id": 63894, "geneSymbol": "VIPAS39", "hgvs": [ "NM_001400335.1:c.2T>G" ], "proteinEffect": { "hgvs": "NP_001387264.1:p.Met1Arg", "hgvsWellDefined": "NP_001387264.1:p.Met1Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS783687" }, { "coordinates": [ { "allele": "G", "end": 109, "referenceAllele": "T", "start": 108 } ], "gene": "http://reg.genome.network/gene/GN020347", "geneNCBI_id": 63894, "geneSymbol": "VIPAS39", "hgvs": [ "NM_001400336.1:c.2T>G" ], "proteinEffect": { "hgvs": "NP_001387265.1:p.Met1Arg", "hgvsWellDefined": "NP_001387265.1:p.Met1Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS783688" }, { "coordinates": [ { "allele": "G", "end": 109, "referenceAllele": "T", "start": 108 } ], "gene": "http://reg.genome.network/gene/GN020347", "geneNCBI_id": 63894, "geneSymbol": "VIPAS39", "hgvs": [ "NM_001400337.1:c.2T>G" ], "proteinEffect": { "hgvs": "NP_001387266.1:p.Met1Arg", "hgvsWellDefined": "NP_001387266.1:p.Met1Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS783689" }, { "coordinates": [ { "allele": "G", "end": 109, "referenceAllele": "T", "start": 108 } ], "gene": "http://reg.genome.network/gene/GN020347", "geneNCBI_id": 63894, "geneSymbol": "VIPAS39", "hgvs": [ "NM_001400338.1:c.2T>G" ], "proteinEffect": { "hgvs": "NP_001387267.1:p.Met1Arg", "hgvsWellDefined": "NP_001387267.1:p.Met1Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS783690" }, { "coordinates": [ { "allele": "G", "end": 109, "referenceAllele": "T", "start": 108 } ], "gene": "http://reg.genome.network/gene/GN020347", "geneNCBI_id": 63894, "geneSymbol": "VIPAS39", "hgvs": [ "NM_001400339.1:c.2T>G" ], "proteinEffect": { "hgvs": "NP_001387268.1:p.Met1Arg", "hgvsWellDefined": "NP_001387268.1:p.Met1Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS783691" }, { "coordinates": [ { "allele": "G", "end": 109, "referenceAllele": "T", "start": 108 } ], "gene": "http://reg.genome.network/gene/GN020347", "geneNCBI_id": 63894, "geneSymbol": "VIPAS39", "hgvs": [ "NR_174476.1:n.109T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS784919" } ], "type": "nucleotide" }