{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA059937", "communityStandardTitle": [ "NM_001370259.2(MEN1):c.1099G>A (p.Val367Ile)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=398857[alleleid]", "alleleId": 398857, "preferredName": "NM_001370259.2(MEN1):c.1099G>A (p.Val367Ile)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/403848", "RCV": [ "RCV000456726", "RCV000569841", "RCV001289028" ], "variationId": 403848 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/11-64573193-C-T", "id": "11-64573193-C-T", "variant": "11:64573193 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.64573193C>T?assembly=hg19", "id": "chr11:g.64573193C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.64805721C>T?assembly=hg38", "id": "chr11:g.64805721C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/758404089", "rs": 758404089 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-64573193-C-T?dataset=gnomad_r2_1", "id": "11-64573193-C-T", "variant": "11:64573193 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-64805721-C-T?dataset=gnomad_r3", "id": "11-64805721-C-T", "variant": "11:64805721 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-64805721-C-T?dataset=gnomad_r4", "id": "11-64805721-C-T", "variant": "11:64805721 C / T" } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 64805721, "referenceAllele": "C", "start": 64805720 } ], "hgvs": [ "NC_000011.10:g.64805721C>T", "CM000673.2:g.64805721C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000059" }, { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 64573193, "referenceAllele": "C", "start": 64573192 } ], "hgvs": [ "NC_000011.9:g.64573193C>T", "CM000673.1:g.64573193C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000035" }, { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 64329769, "referenceAllele": "C", "start": 64329768 } ], "hgvs": [ "NC_000011.8:g.64329769C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000011" }, { "coordinates": [ { "allele": "A", "end": 10574, "referenceAllele": "G", "start": 10573 } ], "hgvs": [ "NG_008929.1:g.10574G>A", "LRG_509:g.10574G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001307" }, { "coordinates": [ { "allele": "A", "end": 2521, "referenceAllele": "G", "start": 2520 } ], "hgvs": [ "NG_033040.1:g.2521G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS005373" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1421, "referenceAllele": "G", "start": 1420 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000377313.7:c.1114G>A" ], "proteinEffect": { "hgvs": "ENSP00000366530.1:p.Val372Ile", "hgvsWellDefined": "ENSP00000366530.1:p.Val372Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS913994" }, { "coordinates": [ { "allele": "A", "end": 1146, "referenceAllele": "G", "start": 1145 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000394374.8:c.*407G>A" ], "proteinEffect": { "hgvs": "ENSP00000377899.4:n.*407G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS914005" }, { "coordinates": [ { "allele": "A", "end": 1163, "referenceAllele": "G", "start": 1162 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000394376.7:c.1099G>A" ], "proteinEffect": { "hgvs": "ENSP00000377901.3:p.Val367Ile", "hgvsWellDefined": "ENSP00000377901.3:p.Val367Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS914006" }, { "coordinates": [ { "allele": "A", "end": 1204, "referenceAllele": "G", "start": 1203 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000413626.2:c.1099G>A" ], "proteinEffect": { "hgvs": "ENSP00000411218.2:p.Val367Ile", "hgvsWellDefined": "ENSP00000411218.2:p.Val367Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS914026" }, { "coordinates": [ { "allele": "A", "end": 1475, "referenceAllele": "G", "start": 1474 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000424912.2:c.1099G>A" ], "proteinEffect": { "hgvs": "ENSP00000388016.2:p.Val367Ile", "hgvsWellDefined": "ENSP00000388016.2:p.Val367Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS914043" }, { "coordinates": [ { "allele": "A", "end": 1603, "referenceAllele": "G", "start": 1602 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000429702.6:c.1099G>A" ], "proteinEffect": { "hgvs": "ENSP00000402752.2:p.Val367Ile", "hgvsWellDefined": "ENSP00000402752.2:p.Val367Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS914051" }, { "coordinates": [ { "allele": "A", "end": 1462, "referenceAllele": "G", "start": 1461 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000672079.2:c.*195G>A" ], "proteinEffect": { "hgvs": "ENSP00000500905.2:n.*195G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS914443" }, { "coordinates": [ { "allele": "A", "end": 1194, "referenceAllele": "G", "start": 1193 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000710881.1:c.1114G>A" ], "proteinEffect": { "hgvs": "ENSP00000518530.1:p.Val372Ile", "hgvsWellDefined": "ENSP00000518530.1:p.Val372Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS914570" }, { "coordinates": [ { "allele": "A", "end": 846, "referenceAllele": "G", "start": 845 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000394374.7:c.846G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS824475" }, { "coordinates": [ { "allele": "A", "end": 450, "referenceAllele": "G", "start": 449 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000394376.6:c.450G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS824476" }, { "coordinates": [ { "allele": "A", "end": 1592, "referenceAllele": "G", "start": 1591 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000478548.3:n.1592G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS825290" }, { "coordinates": [ { "allele": "A", "end": 1061, "referenceAllele": "G", "start": 1060 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000671939.2:n.1061G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS826859" }, { "coordinates": [ { "allele": "A", "end": 1481, "referenceAllele": "G", "start": 1480 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000671965.2:n.1481G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS826860" }, { "coordinates": [ { "allele": "A", "end": 1179, "referenceAllele": "G", "start": 1178 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000312049.11:c.1099G>A" ], "proteinEffect": { "hgvs": "ENSP00000308975.6:p.Val367Ile", "hgvsWellDefined": "ENSP00000308975.6:p.Val367Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS745769" }, { "coordinates": [ { "allele": "A", "end": 1406, "referenceAllele": "G", "start": 1405 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000315422.9:c.1099G>A" ], "proteinEffect": { "hgvs": "ENSP00000323747.4:p.Val367Ile", "hgvsWellDefined": "ENSP00000323747.4:p.Val367Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS745987" }, { "coordinates": [ { "allele": "A", "end": 1137, "referenceAllele": "G", "start": 1136 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000377313.6:c.1114G>A" ], "proteinEffect": { "hgvs": "ENSP00000366530.1:p.Val372Ile", "hgvsWellDefined": "ENSP00000366530.1:p.Val372Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS751900" }, { "coordinates": [ { "allele": "A", "end": 1178, "referenceAllele": "G", "start": 1177 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000440873.6:c.1099G>A" ], "proteinEffect": { "hgvs": "ENSP00000413944.2:p.Val367Ile", "hgvsWellDefined": "ENSP00000413944.2:p.Val367Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS755813" }, { "coordinates": [ { "allele": "A", "end": 1160, "referenceAllele": "G", "start": 1159 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000450708.7:c.1099G>A" ], "proteinEffect": { "hgvs": "ENSP00000394933.3:p.Val367Ile", "hgvsWellDefined": "ENSP00000394933.3:p.Val367Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS756300", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000450708.7:c.1099G>A" }, "RefSeq": { "hgvs": "NM_001370259.2:c.1099G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000394933.3:p.Val367Ile" }, "RefSeq": { "hgvs": "NP_001357188.2:p.Val367Ile" } } } }, { "coordinates": [ { "allele": "A", "end": 1600, "referenceAllele": "G", "start": 1599 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000478548.2:n.1600G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS757266" }, { "coordinates": [ { "allele": "A", "end": 1376, "referenceAllele": "G", "start": 1375 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000671939.1:n.1376G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773216" }, { "coordinates": [ { "allele": "A", "end": 974, "referenceAllele": "G", "start": 973 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000672079.1:c.974G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773263" }, { "coordinates": [ { "allele": "A", "end": 1274, "referenceAllele": "G", "start": 1273 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000672304.1:c.1225G>A" ], "proteinEffect": { "hgvs": "ENSP00000500585.1:p.Val409Ile", "hgvsWellDefined": "ENSP00000500585.1:p.Val409Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS773338" }, { "coordinates": [ { "allele": "A", "end": 1209, "referenceAllele": "G", "start": 1208 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000312049.10:c.1099G>A" ], "proteinEffect": { "hgvs": "ENSP00000308975.6:p.Val367Ile", "hgvsWellDefined": "ENSP00000308975.6:p.Val367Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS247384" }, { "coordinates": [ { "allele": "A", "end": 1596, "referenceAllele": "G", "start": 1595 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000315422.8:c.1099G>A" ], "proteinEffect": { "hgvs": "ENSP00000323747.4:p.Val367Ile", "hgvsWellDefined": "ENSP00000323747.4:p.Val367Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS247139" }, { "coordinates": [ { "allele": "A", "end": 1618, "referenceAllele": "G", "start": 1617 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000337652.5:c.1114G>A" ], "proteinEffect": { "hgvs": "ENSP00000337088.1:p.Val372Ile", "hgvsWellDefined": "ENSP00000337088.1:p.Val372Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS246730" }, { "coordinates": [ { "allele": "A", "end": 1137, "referenceAllele": "G", "start": 1136 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000377313.5:c.1114G>A" ], "proteinEffect": { "hgvs": "ENSP00000366530.1:p.Val372Ile", "hgvsWellDefined": "ENSP00000366530.1:p.Val372Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS247164" }, { "coordinates": [ { "allele": "A", "end": 1475, "referenceAllele": "G", "start": 1474 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000377316.6:c.1099G>A" ], "proteinEffect": { "hgvs": "ENSP00000366533.1:p.Val367Ile", "hgvsWellDefined": "ENSP00000366533.1:p.Val367Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS246623" }, { "coordinates": [ { "allele": "A", "end": 1062, "referenceAllele": "G", "start": 1061 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000377321.5:c.994G>A" ], "proteinEffect": { "hgvs": "ENSP00000366538.1:p.Val332Ile", "hgvsWellDefined": "ENSP00000366538.1:p.Val332Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS247132" }, { "coordinates": [ { "allele": "A", "end": 1598, "referenceAllele": "G", "start": 1597 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000377326.7:c.1099G>A" ], "proteinEffect": { "hgvs": "ENSP00000366543.3:p.Val367Ile", "hgvsWellDefined": "ENSP00000366543.3:p.Val367Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS247410" }, { "coordinates": [ { "allele": "A", "end": 1611, "referenceAllele": "G", "start": 1610 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000394374.6:c.1114G>A" ], "proteinEffect": { "hgvs": "ENSP00000377899.2:p.Val372Ile", "hgvsWellDefined": "ENSP00000377899.2:p.Val372Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS247296" }, { "coordinates": [ { "allele": "A", "end": 1490, "referenceAllele": "G", "start": 1489 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000394376.5:c.1114G>A" ], "proteinEffect": { "hgvs": "ENSP00000377901.1:p.Val372Ile", "hgvsWellDefined": "ENSP00000377901.1:p.Val372Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS247366" }, { "coordinates": [ { "allele": "A", "end": 648, "referenceAllele": "G", "start": 647 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000478548.1:n.648G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS319131" }, { "coordinates": [ { "allele": "A", "end": 155, "referenceAllele": "G", "start": 154 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000487019.1:n.155G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS325686" }, { "@id": "http://reg.genome.network/allele/PA645497268", "coordinates": [ { "allele": "A", "end": 1224, "referenceAllele": "G", "start": 1223 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_000244.3:c.1114G>A", "LRG_509t1:c.1114G>A" ], "proteinEffect": { "hgvs": "NP_000235.2:p.Val372Ile", "hgvsWellDefined": "NP_000235.2:p.Val372Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS006306" }, { "coordinates": [ { "allele": "A", "end": 1209, "referenceAllele": "G", "start": 1208 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130799.2:c.1099G>A", "LRG_509t2:c.1099G>A" ], "proteinEffect": { "hgvs": "NP_570711.1:p.Val367Ile", "hgvsWellDefined": "NP_570711.1:p.Val367Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS040412" }, { "coordinates": [ { "allele": "A", "end": 1187, "referenceAllele": "G", "start": 1186 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130800.2:c.1114G>A" ], "proteinEffect": { "hgvs": "NP_570712.1:p.Val372Ile", "hgvsWellDefined": "NP_570712.1:p.Val372Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS040413" }, { "coordinates": [ { "allele": "A", "end": 1175, "referenceAllele": "G", "start": 1174 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130801.2:c.1114G>A" ], "proteinEffect": { "hgvs": "NP_570713.1:p.Val372Ile", "hgvsWellDefined": "NP_570713.1:p.Val372Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS040414" }, { "coordinates": [ { "allele": "A", "end": 1611, "referenceAllele": "G", "start": 1610 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130802.2:c.1114G>A" ], "proteinEffect": { "hgvs": "NP_570714.1:p.Val372Ile", "hgvsWellDefined": "NP_570714.1:p.Val372Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS040415" }, { "coordinates": [ { "allele": "A", "end": 1618, "referenceAllele": "G", "start": 1617 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130803.2:c.1114G>A" ], "proteinEffect": { "hgvs": "NP_570715.1:p.Val372Ile", "hgvsWellDefined": "NP_570715.1:p.Val372Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS040416" }, { "coordinates": [ { "allele": "A", "end": 1490, "referenceAllele": "G", "start": 1489 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130804.2:c.1114G>A" ], "proteinEffect": { "hgvs": "NP_570716.1:p.Val372Ile", "hgvsWellDefined": "NP_570716.1:p.Val372Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS040417" }, { "coordinates": [ { "allele": "A", "end": 1591, "referenceAllele": "G", "start": 1590 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_005274001.3:c.1099G>A" ], "proteinEffect": { "hgvs": "XP_005274058.1:p.Val367Ile", "hgvsWellDefined": "XP_005274058.1:p.Val367Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS067795" }, { "coordinates": [ { "allele": "A", "end": 1717, "referenceAllele": "G", "start": 1716 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_011545040.1:c.1225G>A" ], "proteinEffect": { "hgvs": "XP_011543342.1:p.Val409Ile", "hgvsWellDefined": "XP_011543342.1:p.Val409Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS111947" }, { "coordinates": [ { "allele": "A", "end": 1446, "referenceAllele": "G", "start": 1445 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_011545041.1:c.1225G>A" ], "proteinEffect": { "hgvs": "XP_011543343.1:p.Val409Ile", "hgvsWellDefined": "XP_011543343.1:p.Val409Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS111948" }, { "coordinates": [ { "allele": "A", "end": 1308, "referenceAllele": "G", "start": 1307 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_011545042.1:c.1225G>A" ], "proteinEffect": { "hgvs": "XP_011543344.1:p.Val409Ile", "hgvsWellDefined": "XP_011543344.1:p.Val409Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS111949" }, { "coordinates": [ { "allele": "A", "end": 1591, "referenceAllele": "G", "start": 1590 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_005274001.4:c.1099G>A" ], "proteinEffect": { "hgvs": "XP_005274058.1:p.Val367Ile", "hgvsWellDefined": "XP_005274058.1:p.Val367Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS537539" }, { "coordinates": [ { "allele": "A", "end": 1416, "referenceAllele": "G", "start": 1415 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_011545041.2:c.1225G>A" ], "proteinEffect": { "hgvs": "XP_011543343.1:p.Val409Ile", "hgvsWellDefined": "XP_011543343.1:p.Val409Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS555895" }, { "coordinates": [ { "allele": "A", "end": 1320, "referenceAllele": "G", "start": 1319 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_011545042.3:c.1225G>A" ], "proteinEffect": { "hgvs": "XP_011543344.1:p.Val409Ile", "hgvsWellDefined": "XP_011543344.1:p.Val409Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS555896" }, { "coordinates": [ { "allele": "A", "end": 1732, "referenceAllele": "G", "start": 1731 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_017017765.1:c.1240G>A" ], "proteinEffect": { "hgvs": "XP_016873254.1:p.Val414Ile", "hgvsWellDefined": "XP_016873254.1:p.Val414Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS569877" }, { "coordinates": [ { "allele": "A", "end": 1431, "referenceAllele": "G", "start": 1430 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_017017766.1:c.1240G>A" ], "proteinEffect": { "hgvs": "XP_016873255.1:p.Val414Ile", "hgvsWellDefined": "XP_016873255.1:p.Val414Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS569878" }, { "coordinates": [ { "allele": "A", "end": 1337, "referenceAllele": "G", "start": 1336 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_017017767.2:c.1240G>A" ], "proteinEffect": { "hgvs": "XP_016873256.1:p.Val414Ile", "hgvsWellDefined": "XP_016873256.1:p.Val414Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS569879" }, { "coordinates": [ { "allele": "A", "end": 1363, "referenceAllele": "G", "start": 1362 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_017017768.1:c.1240G>A" ], "proteinEffect": { "hgvs": "XP_016873257.1:p.Val414Ile", "hgvsWellDefined": "XP_016873257.1:p.Val414Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS569880" }, { "coordinates": [ { "allele": "A", "end": 1290, "referenceAllele": "G", "start": 1289 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_017017769.1:c.1099G>A" ], "proteinEffect": { "hgvs": "XP_016873258.1:p.Val367Ile", "hgvsWellDefined": "XP_016873258.1:p.Val367Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS569881" }, { "coordinates": [ { "allele": "A", "end": 1191, "referenceAllele": "G", "start": 1190 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_017017770.2:c.1099G>A" ], "proteinEffect": { "hgvs": "XP_016873259.1:p.Val367Ile", "hgvsWellDefined": "XP_016873259.1:p.Val367Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS569882" }, { "@id": "http://reg.genome.network/allele/PA916048176", "coordinates": [ { "allele": "A", "end": 1274, "referenceAllele": "G", "start": 1273 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370251.1:c.1225G>A" ], "proteinEffect": { "hgvs": "NP_001357180.1:p.Val409Ile", "hgvsWellDefined": "NP_001357180.1:p.Val409Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS692261" }, { "@id": "http://reg.genome.network/allele/PA2828396620", "coordinates": [ { "allele": "A", "end": 1160, "referenceAllele": "G", "start": 1159 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370259.2:c.1099G>A" ], "proteinEffect": { "hgvs": "NP_001357188.2:p.Val367Ile", "hgvsWellDefined": "NP_001357188.2:p.Val367Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS692269", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000450708.7:c.1099G>A" }, "RefSeq": { "hgvs": "NM_001370259.2:c.1099G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000394933.3:p.Val367Ile" }, "RefSeq": { "hgvs": "NP_001357188.2:p.Val367Ile" } } } }, { "coordinates": [ { "allele": "A", "end": 1148, "referenceAllele": "G", "start": 1147 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370260.1:c.1099G>A" ], "proteinEffect": { "hgvs": "NP_001357189.1:p.Val367Ile", "hgvsWellDefined": "NP_001357189.1:p.Val367Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS692270" }, { "coordinates": [ { "allele": "A", "end": 1406, "referenceAllele": "G", "start": 1405 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370261.1:c.1099G>A" ], "proteinEffect": { "hgvs": "NP_001357190.1:p.Val367Ile", "hgvsWellDefined": "NP_001357190.1:p.Val367Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS692271" }, { "coordinates": [ { "allele": "A", "end": 1301, "referenceAllele": "G", "start": 1300 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370262.1:c.994G>A" ], "proteinEffect": { "hgvs": "NP_001357191.1:p.Val332Ile", "hgvsWellDefined": "NP_001357191.1:p.Val332Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS692272" }, { "coordinates": [ { "allele": "A", "end": 1055, "referenceAllele": "G", "start": 1054 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370263.1:c.994G>A" ], "proteinEffect": { "hgvs": "NP_001357192.1:p.Val332Ile", "hgvsWellDefined": "NP_001357192.1:p.Val332Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS692273" }, { "@id": "http://reg.genome.network/allele/PA2825101016", "coordinates": [ { "allele": "A", "end": 1194, "referenceAllele": "G", "start": 1193 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_000244.4:c.1114G>A" ], "proteinEffect": { "hgvs": "NP_000235.3:p.Val372Ile", "hgvsWellDefined": "NP_000235.3:p.Val372Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS781556" }, { "@id": "http://reg.genome.network/allele/PA2573212181", "coordinates": [ { "allele": "A", "end": 1274, "referenceAllele": "G", "start": 1273 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370251.2:c.1225G>A" ], "proteinEffect": { "hgvs": "NP_001357180.2:p.Val409Ile", "hgvsWellDefined": "NP_001357180.2:p.Val409Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS781994" }, { "@id": "http://reg.genome.network/allele/PA2828398269", "coordinates": [ { "allele": "A", "end": 1148, "referenceAllele": "G", "start": 1147 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370260.2:c.1099G>A" ], "proteinEffect": { "hgvs": "NP_001357189.2:p.Val367Ile", "hgvsWellDefined": "NP_001357189.2:p.Val367Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS781995" }, { "@id": "http://reg.genome.network/allele/PA2828399920", "coordinates": [ { "allele": "A", "end": 1406, "referenceAllele": "G", "start": 1405 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370261.2:c.1099G>A" ], "proteinEffect": { "hgvs": "NP_001357190.2:p.Val367Ile", "hgvsWellDefined": "NP_001357190.2:p.Val367Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS781996" }, { "@id": "http://reg.genome.network/allele/PA2828401481", "coordinates": [ { "allele": "A", "end": 1301, "referenceAllele": "G", "start": 1300 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370262.2:c.994G>A" ], "proteinEffect": { "hgvs": "NP_001357191.2:p.Val332Ile", "hgvsWellDefined": "NP_001357191.2:p.Val332Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS781997" }, { "@id": "http://reg.genome.network/allele/PA2828403043", "coordinates": [ { "allele": "A", "end": 1055, "referenceAllele": "G", "start": 1054 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370263.2:c.994G>A" ], "proteinEffect": { "hgvs": "NP_001357192.2:p.Val332Ile", "hgvsWellDefined": "NP_001357192.2:p.Val332Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS781998" }, { "@id": "http://reg.genome.network/allele/PA2830171269", "coordinates": [ { "allele": "A", "end": 1179, "referenceAllele": "G", "start": 1178 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130799.3:c.1099G>A" ], "proteinEffect": { "hgvs": "NP_570711.2:p.Val367Ile", "hgvsWellDefined": "NP_570711.2:p.Val367Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS784284" }, { "@id": "http://reg.genome.network/allele/PA2830172930", "coordinates": [ { "allele": "A", "end": 1175, "referenceAllele": "G", "start": 1174 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130800.3:c.1114G>A" ], "proteinEffect": { "hgvs": "NP_570712.2:p.Val372Ile", "hgvsWellDefined": "NP_570712.2:p.Val372Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS784285" }, { "@id": "http://reg.genome.network/allele/PA2830174589", "coordinates": [ { "allele": "A", "end": 1163, "referenceAllele": "G", "start": 1162 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130801.3:c.1114G>A" ], "proteinEffect": { "hgvs": "NP_570713.2:p.Val372Ile", "hgvsWellDefined": "NP_570713.2:p.Val372Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS784286" }, { "@id": "http://reg.genome.network/allele/PA2830176250", "coordinates": [ { "allele": "A", "end": 1421, "referenceAllele": "G", "start": 1420 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130802.3:c.1114G>A" ], "proteinEffect": { "hgvs": "NP_570714.2:p.Val372Ile", "hgvsWellDefined": "NP_570714.2:p.Val372Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS784287" }, { "@id": "http://reg.genome.network/allele/PA2830177909", "coordinates": [ { "allele": "A", "end": 1618, "referenceAllele": "G", "start": 1617 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130803.3:c.1114G>A" ], "proteinEffect": { "hgvs": "NP_570715.2:p.Val372Ile", "hgvsWellDefined": "NP_570715.2:p.Val372Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS784288" }, { "@id": "http://reg.genome.network/allele/PA2830178864", "coordinates": [ { "allele": "A", "end": 1490, "referenceAllele": "G", "start": 1489 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130804.3:c.1114G>A" ], "proteinEffect": { "hgvs": "NP_570716.2:p.Val372Ile", "hgvsWellDefined": "NP_570716.2:p.Val372Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS784289" } ], "type": "nucleotide" }