{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA009535", "communityStandardTitle": [ "NM_001370259.2(MEN1):c.643G>A (p.Val215Met)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=197547[alleleid]", "alleleId": 197547, "preferredName": "NM_001370259.2(MEN1):c.643G>A (p.Val215Met)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/200977", "RCV": [ "RCV000230442", "RCV001797061" ], "variationId": 200977 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.64575374C>T?assembly=hg19", "id": "chr11:g.64575374C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.64807902C>T?assembly=hg38", "id": "chr11:g.64807902C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/794728621", "rs": 794728621 } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 64807902, "referenceAllele": "C", "start": 64807901 } ], "hgvs": [ "NC_000011.10:g.64807902C>T", "CM000673.2:g.64807902C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000059" }, { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 64575374, "referenceAllele": "C", "start": 64575373 } ], "hgvs": [ "NC_000011.9:g.64575374C>T", "CM000673.1:g.64575374C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000035" }, { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 64331950, "referenceAllele": "C", "start": 64331949 } ], "hgvs": [ "NC_000011.8:g.64331950C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000011" }, { "coordinates": [ { "allele": "A", "end": 8393, "referenceAllele": "G", "start": 8392 } ], "hgvs": [ "NG_008929.1:g.8393G>A", "LRG_509:g.8393G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001307" }, { "coordinates": [ { "allele": "A", "end": 340, "referenceAllele": "G", "start": 339 } ], "hgvs": [ "NG_033040.1:g.340G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS005373" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 965, "referenceAllele": "G", "start": 964 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000377313.7:c.658G>A" ], "proteinEffect": { "hgvs": "ENSP00000366530.1:p.Val220Met", "hgvsWellDefined": "ENSP00000366530.1:p.Val220Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS913994" }, { "coordinates": [ { "allele": "A", "end": 701, "endIntronDirection": "+", "endIntronOffset": 3, "referenceAllele": "G", "start": 701, "startIntronDirection": "+", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000394374.8:c.640+3G>A" ], "proteinEffect": { "hgvs": "ENSP00000377899.4:n.640+3G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS914005" }, { "coordinates": [ { "allele": "A", "end": 707, "referenceAllele": "G", "start": 706 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000394376.7:c.643G>A" ], "proteinEffect": { "hgvs": "ENSP00000377901.3:p.Val215Met", "hgvsWellDefined": "ENSP00000377901.3:p.Val215Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS914006" }, { "coordinates": [ { "allele": "A", "end": 748, "referenceAllele": "G", "start": 747 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000413626.2:c.643G>A" ], "proteinEffect": { "hgvs": "ENSP00000411218.2:p.Val215Met", "hgvsWellDefined": "ENSP00000411218.2:p.Val215Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS914026" }, { "coordinates": [ { "allele": "A", "end": 1019, "referenceAllele": "G", "start": 1018 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000424912.2:c.643G>A" ], "proteinEffect": { "hgvs": "ENSP00000388016.2:p.Val215Met", "hgvsWellDefined": "ENSP00000388016.2:p.Val215Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS914043" }, { "coordinates": [ { "allele": "A", "end": 1147, "referenceAllele": "G", "start": 1146 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000429702.6:c.643G>A" ], "proteinEffect": { "hgvs": "ENSP00000402752.2:p.Val215Met", "hgvsWellDefined": "ENSP00000402752.2:p.Val215Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS914051" }, { "coordinates": [ { "allele": "A", "end": 857, "referenceAllele": "G", "start": 856 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000672079.2:c.643G>A" ], "proteinEffect": { "hgvs": "ENSP00000500905.2:p.Val215Met", "hgvsWellDefined": "ENSP00000500905.2:p.Val215Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS914443" }, { "coordinates": [ { "allele": "A", "end": 738, "referenceAllele": "G", "start": 737 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000710881.1:c.658G>A" ], "proteinEffect": { "hgvs": "ENSP00000518530.1:p.Val220Met", "hgvsWellDefined": "ENSP00000518530.1:p.Val220Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS914570" }, { "coordinates": [ { "allele": "A", "end": 401, "endIntronDirection": "+", "endIntronOffset": 3, "referenceAllele": "G", "start": 401, "startIntronDirection": "+", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000394374.7:c.401+3G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS824475" }, { "coordinates": [ { "allele": "A", "end": 675, "referenceAllele": "G", "start": 674 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000478548.3:n.675G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS825290" }, { "coordinates": [ { "allele": "A", "end": 395, "referenceAllele": "G", "start": 394 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000671939.2:n.395G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS826859" }, { "coordinates": [ { "allele": "A", "end": 303, "referenceAllele": "G", "start": 302 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000671965.2:n.303G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS826860" }, { "coordinates": [ { "allele": "A", "end": 723, "referenceAllele": "G", "start": 722 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000312049.11:c.643G>A" ], "proteinEffect": { "hgvs": "ENSP00000308975.6:p.Val215Met", "hgvsWellDefined": "ENSP00000308975.6:p.Val215Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS745769" }, { "coordinates": [ { "allele": "A", "end": 950, "referenceAllele": "G", "start": 949 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000315422.9:c.643G>A" ], "proteinEffect": { "hgvs": "ENSP00000323747.4:p.Val215Met", "hgvsWellDefined": "ENSP00000323747.4:p.Val215Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS745987" }, { "coordinates": [ { "allele": "A", "end": 681, "referenceAllele": "G", "start": 680 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000377313.6:c.658G>A" ], "proteinEffect": { "hgvs": "ENSP00000366530.1:p.Val220Met", "hgvsWellDefined": "ENSP00000366530.1:p.Val220Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS751900" }, { "coordinates": [ { "allele": "A", "end": 722, "referenceAllele": "G", "start": 721 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000440873.6:c.643G>A" ], "proteinEffect": { "hgvs": "ENSP00000413944.2:p.Val215Met", "hgvsWellDefined": "ENSP00000413944.2:p.Val215Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS755813" }, { "coordinates": [ { "allele": "A", "end": 704, "referenceAllele": "G", "start": 703 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000450708.7:c.643G>A" ], "proteinEffect": { "hgvs": "ENSP00000394933.3:p.Val215Met", "hgvsWellDefined": "ENSP00000394933.3:p.Val215Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS756300", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000450708.7:c.643G>A" }, "RefSeq": { "hgvs": "NM_001370259.2:c.643G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000394933.3:p.Val215Met" }, "RefSeq": { "hgvs": "NP_001357188.2:p.Val215Met" } } } }, { "coordinates": [ { "allele": "A", "end": 683, "referenceAllele": "G", "start": 682 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000478548.2:n.683G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS757266" }, { "coordinates": [ { "allele": "A", "end": 710, "referenceAllele": "G", "start": 709 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000671939.1:n.710G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773216" }, { "coordinates": [ { "allele": "A", "end": 303, "referenceAllele": "G", "start": 302 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000671965.1:n.303G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773225" }, { "coordinates": [ { "allele": "A", "end": 369, "referenceAllele": "G", "start": 368 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000672079.1:c.369G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773263" }, { "coordinates": [ { "allele": "A", "end": 692, "referenceAllele": "G", "start": 691 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000672304.1:c.643G>A" ], "proteinEffect": { "hgvs": "ENSP00000500585.1:p.Val215Met", "hgvsWellDefined": "ENSP00000500585.1:p.Val215Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS773338" }, { "coordinates": [ { "allele": "A", "end": 753, "referenceAllele": "G", "start": 752 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000312049.10:c.643G>A" ], "proteinEffect": { "hgvs": "ENSP00000308975.6:p.Val215Met", "hgvsWellDefined": "ENSP00000308975.6:p.Val215Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS247384" }, { "coordinates": [ { "allele": "A", "end": 1140, "referenceAllele": "G", "start": 1139 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000315422.8:c.643G>A" ], "proteinEffect": { "hgvs": "ENSP00000323747.4:p.Val215Met", "hgvsWellDefined": "ENSP00000323747.4:p.Val215Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS247139" }, { "coordinates": [ { "allele": "A", "end": 1162, "referenceAllele": "G", "start": 1161 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000337652.5:c.658G>A" ], "proteinEffect": { "hgvs": "ENSP00000337088.1:p.Val220Met", "hgvsWellDefined": "ENSP00000337088.1:p.Val220Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS246730" }, { "coordinates": [ { "allele": "A", "end": 681, "referenceAllele": "G", "start": 680 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000377313.5:c.658G>A" ], "proteinEffect": { "hgvs": "ENSP00000366530.1:p.Val220Met", "hgvsWellDefined": "ENSP00000366530.1:p.Val220Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS247164" }, { "coordinates": [ { "allele": "A", "end": 1019, "referenceAllele": "G", "start": 1018 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000377316.6:c.643G>A" ], "proteinEffect": { "hgvs": "ENSP00000366533.1:p.Val215Met", "hgvsWellDefined": "ENSP00000366533.1:p.Val215Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS246623" }, { "coordinates": [ { "allele": "A", "end": 617, "endIntronDirection": "+", "endIntronOffset": 94, "referenceAllele": "G", "start": 617, "startIntronDirection": "+", "startIntronOffset": 93 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000377321.5:c.549+94G>A" ], "proteinEffect": { "hgvs": "ENSP00000366538.1:n.549+94G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS247132" }, { "coordinates": [ { "allele": "A", "end": 1142, "referenceAllele": "G", "start": 1141 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000377326.7:c.643G>A" ], "proteinEffect": { "hgvs": "ENSP00000366543.3:p.Val215Met", "hgvsWellDefined": "ENSP00000366543.3:p.Val215Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS247410" }, { "coordinates": [ { "allele": "A", "end": 1155, "referenceAllele": "G", "start": 1154 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000394374.6:c.658G>A" ], "proteinEffect": { "hgvs": "ENSP00000377899.2:p.Val220Met", "hgvsWellDefined": "ENSP00000377899.2:p.Val220Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS247296" }, { "coordinates": [ { "allele": "A", "end": 1034, "referenceAllele": "G", "start": 1033 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000394376.5:c.658G>A" ], "proteinEffect": { "hgvs": "ENSP00000377901.1:p.Val220Met", "hgvsWellDefined": "ENSP00000377901.1:p.Val220Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS247366" }, { "coordinates": [ { "allele": "A", "end": 730, "referenceAllele": "G", "start": 729 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000413626.1:c.643G>A" ], "proteinEffect": { "hgvs": "ENSP00000411218.1:p.Val215Met", "hgvsWellDefined": "ENSP00000411218.1:p.Val215Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS247149" }, { "coordinates": [ { "allele": "A", "end": 711, "referenceAllele": "G", "start": 710 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000440873.5:c.643G>A" ], "proteinEffect": { "hgvs": "ENSP00000413944.1:p.Val215Met", "hgvsWellDefined": "ENSP00000413944.1:p.Val215Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS247401" }, { "coordinates": [ { "allele": "A", "end": 722, "referenceAllele": "G", "start": 721 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000450708.5:c.643G>A" ], "proteinEffect": { "hgvs": "ENSP00000394933.1:p.Val215Met", "hgvsWellDefined": "ENSP00000394933.1:p.Val215Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS247295" }, { "@id": "http://reg.genome.network/allele/PA306338", "coordinates": [ { "allele": "A", "end": 768, "referenceAllele": "G", "start": 767 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_000244.3:c.658G>A", "LRG_509t1:c.658G>A" ], "proteinEffect": { "hgvs": "NP_000235.2:p.Val220Met", "hgvsWellDefined": "NP_000235.2:p.Val220Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS006306" }, { "@id": "http://reg.genome.network/allele/PA306337", "coordinates": [ { "allele": "A", "end": 753, "referenceAllele": "G", "start": 752 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130799.2:c.643G>A", "LRG_509t2:c.643G>A" ], "proteinEffect": { "hgvs": "NP_570711.1:p.Val215Met", "hgvsWellDefined": "NP_570711.1:p.Val215Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS040412" }, { "coordinates": [ { "allele": "A", "end": 731, "referenceAllele": "G", "start": 730 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130800.2:c.658G>A" ], "proteinEffect": { "hgvs": "NP_570712.1:p.Val220Met", "hgvsWellDefined": "NP_570712.1:p.Val220Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS040413" }, { "coordinates": [ { "allele": "A", "end": 719, "referenceAllele": "G", "start": 718 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130801.2:c.658G>A" ], "proteinEffect": { "hgvs": "NP_570713.1:p.Val220Met", "hgvsWellDefined": "NP_570713.1:p.Val220Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS040414" }, { "coordinates": [ { "allele": "A", "end": 1155, "referenceAllele": "G", "start": 1154 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130802.2:c.658G>A" ], "proteinEffect": { "hgvs": "NP_570714.1:p.Val220Met", "hgvsWellDefined": "NP_570714.1:p.Val220Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS040415" }, { "coordinates": [ { "allele": "A", "end": 1162, "referenceAllele": "G", "start": 1161 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130803.2:c.658G>A" ], "proteinEffect": { "hgvs": "NP_570715.1:p.Val220Met", "hgvsWellDefined": "NP_570715.1:p.Val220Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS040416" }, { "@id": "http://reg.genome.network/allele/PA916059478", "coordinates": [ { "allele": "A", "end": 1034, "referenceAllele": "G", "start": 1033 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130804.2:c.658G>A" ], "proteinEffect": { "hgvs": "NP_570716.1:p.Val220Met", "hgvsWellDefined": "NP_570716.1:p.Val220Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS040417" }, { "coordinates": [ { "allele": "A", "end": 1135, "referenceAllele": "G", "start": 1134 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_005274001.3:c.643G>A" ], "proteinEffect": { "hgvs": "XP_005274058.1:p.Val215Met", "hgvsWellDefined": "XP_005274058.1:p.Val215Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS067795" }, { "coordinates": [ { "allele": "A", "end": 1135, "referenceAllele": "G", "start": 1134 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_011545040.1:c.643G>A" ], "proteinEffect": { "hgvs": "XP_011543342.1:p.Val215Met", "hgvsWellDefined": "XP_011543342.1:p.Val215Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS111947" }, { "coordinates": [ { "allele": "A", "end": 864, "referenceAllele": "G", "start": 863 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_011545041.1:c.643G>A" ], "proteinEffect": { "hgvs": "XP_011543343.1:p.Val215Met", "hgvsWellDefined": "XP_011543343.1:p.Val215Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS111948" }, { "coordinates": [ { "allele": "A", "end": 726, "referenceAllele": "G", "start": 725 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_011545042.1:c.643G>A" ], "proteinEffect": { "hgvs": "XP_011543344.1:p.Val215Met", "hgvsWellDefined": "XP_011543344.1:p.Val215Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS111949" }, { "coordinates": [ { "allele": "A", "end": 1135, "referenceAllele": "G", "start": 1134 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_005274001.4:c.643G>A" ], "proteinEffect": { "hgvs": "XP_005274058.1:p.Val215Met", "hgvsWellDefined": "XP_005274058.1:p.Val215Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS537539" }, { "coordinates": [ { "allele": "A", "end": 834, "referenceAllele": "G", "start": 833 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_011545041.2:c.643G>A" ], "proteinEffect": { "hgvs": "XP_011543343.1:p.Val215Met", "hgvsWellDefined": "XP_011543343.1:p.Val215Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS555895" }, { "coordinates": [ { "allele": "A", "end": 738, "referenceAllele": "G", "start": 737 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_011545042.3:c.643G>A" ], "proteinEffect": { "hgvs": "XP_011543344.1:p.Val215Met", "hgvsWellDefined": "XP_011543344.1:p.Val215Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS555896" }, { "coordinates": [ { "allele": "A", "end": 1150, "referenceAllele": "G", "start": 1149 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_017017765.1:c.658G>A" ], "proteinEffect": { "hgvs": "XP_016873254.1:p.Val220Met", "hgvsWellDefined": "XP_016873254.1:p.Val220Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS569877" }, { "coordinates": [ { "allele": "A", "end": 849, "referenceAllele": "G", "start": 848 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_017017766.1:c.658G>A" ], "proteinEffect": { "hgvs": "XP_016873255.1:p.Val220Met", "hgvsWellDefined": "XP_016873255.1:p.Val220Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS569878" }, { "coordinates": [ { "allele": "A", "end": 755, "referenceAllele": "G", "start": 754 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_017017767.2:c.658G>A" ], "proteinEffect": { "hgvs": "XP_016873256.1:p.Val220Met", "hgvsWellDefined": "XP_016873256.1:p.Val220Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS569879" }, { "coordinates": [ { "allele": "A", "end": 781, "referenceAllele": "G", "start": 780 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_017017768.1:c.658G>A" ], "proteinEffect": { "hgvs": "XP_016873257.1:p.Val220Met", "hgvsWellDefined": "XP_016873257.1:p.Val220Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS569880" }, { "coordinates": [ { "allele": "A", "end": 834, "referenceAllele": "G", "start": 833 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_017017769.1:c.643G>A" ], "proteinEffect": { "hgvs": "XP_016873258.1:p.Val215Met", "hgvsWellDefined": "XP_016873258.1:p.Val215Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS569881" }, { "coordinates": [ { "allele": "A", "end": 735, "referenceAllele": "G", "start": 734 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_017017770.2:c.643G>A" ], "proteinEffect": { "hgvs": "XP_016873259.1:p.Val215Met", "hgvsWellDefined": "XP_016873259.1:p.Val215Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS569882" }, { "coordinates": [ { "allele": "A", "end": 692, "referenceAllele": "G", "start": 691 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370251.1:c.643G>A" ], "proteinEffect": { "hgvs": "NP_001357180.1:p.Val215Met", "hgvsWellDefined": "NP_001357180.1:p.Val215Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS692261" }, { "@id": "http://reg.genome.network/allele/PA2828396223", "coordinates": [ { "allele": "A", "end": 704, "referenceAllele": "G", "start": 703 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370259.2:c.643G>A" ], "proteinEffect": { "hgvs": "NP_001357188.2:p.Val215Met", "hgvsWellDefined": "NP_001357188.2:p.Val215Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS692269", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000450708.7:c.643G>A" }, "RefSeq": { "hgvs": "NM_001370259.2:c.643G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000394933.3:p.Val215Met" }, "RefSeq": { "hgvs": "NP_001357188.2:p.Val215Met" } } } }, { "coordinates": [ { "allele": "A", "end": 692, "referenceAllele": "G", "start": 691 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370260.1:c.643G>A" ], "proteinEffect": { "hgvs": "NP_001357189.1:p.Val215Met", "hgvsWellDefined": "NP_001357189.1:p.Val215Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS692270" }, { "coordinates": [ { "allele": "A", "end": 950, "referenceAllele": "G", "start": 949 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370261.1:c.643G>A" ], "proteinEffect": { "hgvs": "NP_001357190.1:p.Val215Met", "hgvsWellDefined": "NP_001357190.1:p.Val215Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS692271" }, { "coordinates": [ { "allele": "A", "end": 856, "endIntronDirection": "+", "endIntronOffset": 94, "referenceAllele": "G", "start": 856, "startIntronDirection": "+", "startIntronOffset": 93 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370262.1:c.549+94G>A" ], "proteinEffect": { "hgvs": "NP_001357191.1:n.549+94G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS692272" }, { "coordinates": [ { "allele": "A", "end": 610, "endIntronDirection": "+", "endIntronOffset": 94, "referenceAllele": "G", "start": 610, "startIntronDirection": "+", "startIntronOffset": 93 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370263.1:c.549+94G>A" ], "proteinEffect": { "hgvs": "NP_001357192.1:n.549+94G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS692273" }, { "@id": "http://reg.genome.network/allele/PA2825100618", "coordinates": [ { "allele": "A", "end": 738, "referenceAllele": "G", "start": 737 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_000244.4:c.658G>A" ], "proteinEffect": { "hgvs": "NP_000235.3:p.Val220Met", "hgvsWellDefined": "NP_000235.3:p.Val220Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS781556" }, { "@id": "http://reg.genome.network/allele/PA2828394715", "coordinates": [ { "allele": "A", "end": 692, "referenceAllele": "G", "start": 691 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370251.2:c.643G>A" ], "proteinEffect": { "hgvs": "NP_001357180.2:p.Val215Met", "hgvsWellDefined": "NP_001357180.2:p.Val215Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS781994" }, { "@id": "http://reg.genome.network/allele/PA2828397870", "coordinates": [ { "allele": "A", "end": 692, "referenceAllele": "G", "start": 691 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370260.2:c.643G>A" ], "proteinEffect": { "hgvs": "NP_001357189.2:p.Val215Met", "hgvsWellDefined": "NP_001357189.2:p.Val215Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS781995" }, { "@id": "http://reg.genome.network/allele/PA2828399525", "coordinates": [ { "allele": "A", "end": 950, "referenceAllele": "G", "start": 949 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370261.2:c.643G>A" ], "proteinEffect": { "hgvs": "NP_001357190.2:p.Val215Met", "hgvsWellDefined": "NP_001357190.2:p.Val215Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS781996" }, { "coordinates": [ { "allele": "A", "end": 856, "endIntronDirection": "+", "endIntronOffset": 94, "referenceAllele": "G", "start": 856, "startIntronDirection": "+", "startIntronOffset": 93 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370262.2:c.549+94G>A" ], "proteinEffect": { "hgvs": "NP_001357191.2:n.549+94G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS781997" }, { "coordinates": [ { "allele": "A", "end": 610, "endIntronDirection": "+", "endIntronOffset": 94, "referenceAllele": "G", "start": 610, "startIntronDirection": "+", "startIntronOffset": 93 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370263.2:c.549+94G>A" ], "proteinEffect": { "hgvs": "NP_001357192.2:n.549+94G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS781998" }, { "@id": "http://reg.genome.network/allele/PA2830170872", "coordinates": [ { "allele": "A", "end": 723, "referenceAllele": "G", "start": 722 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130799.3:c.643G>A" ], "proteinEffect": { "hgvs": "NP_570711.2:p.Val215Met", "hgvsWellDefined": "NP_570711.2:p.Val215Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS784284" }, { "@id": "http://reg.genome.network/allele/PA2830172533", "coordinates": [ { "allele": "A", "end": 719, "referenceAllele": "G", "start": 718 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130800.3:c.658G>A" ], "proteinEffect": { "hgvs": "NP_570712.2:p.Val220Met", "hgvsWellDefined": "NP_570712.2:p.Val220Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS784285" }, { "@id": "http://reg.genome.network/allele/PA2830174191", "coordinates": [ { "allele": "A", "end": 707, "referenceAllele": "G", "start": 706 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130801.3:c.658G>A" ], "proteinEffect": { "hgvs": "NP_570713.2:p.Val220Met", "hgvsWellDefined": "NP_570713.2:p.Val220Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS784286" }, { "@id": "http://reg.genome.network/allele/PA2830175852", "coordinates": [ { "allele": "A", "end": 965, "referenceAllele": "G", "start": 964 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130802.3:c.658G>A" ], "proteinEffect": { "hgvs": "NP_570714.2:p.Val220Met", "hgvsWellDefined": "NP_570714.2:p.Val220Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS784287" }, { "@id": "http://reg.genome.network/allele/PA2830177511", "coordinates": [ { "allele": "A", "end": 1162, "referenceAllele": "G", "start": 1161 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130803.3:c.658G>A" ], "proteinEffect": { "hgvs": "NP_570715.2:p.Val220Met", "hgvsWellDefined": "NP_570715.2:p.Val220Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS784288" }, { "@id": "http://reg.genome.network/allele/PA2573297401", "coordinates": [ { "allele": "A", "end": 1034, "referenceAllele": "G", "start": 1033 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130804.3:c.658G>A" ], "proteinEffect": { "hgvs": "NP_570716.2:p.Val220Met", "hgvsWellDefined": "NP_570716.2:p.Val220Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS784289" } ], "type": "nucleotide" }