{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA6573002", "communityStandardTitle": [ "NM_000020.3(ACVRL1):c.822G>A (p.Trp274Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=241562[alleleid]", "alleleId": 241562, "preferredName": "NM_000020.3(ACVRL1):c.822G>A (p.Trp274Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/236553", "RCV": [ "RCV000231890", "RCV002408944" ], "variationId": 236553 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/12-52309058-G-A", "id": "12-52309058-G-A", "variant": "12:52309058 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr12:g.52309058G>A?assembly=hg19", "id": "chr12:g.52309058G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr12:g.51915274G>A?assembly=hg38", "id": "chr12:g.51915274G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/757645341", "rs": 757645341 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/12-52309058-G-A?dataset=gnomad_r2_1", "id": "12-52309058-G-A", "variant": "12:52309058 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/12-51915274-G-A?dataset=gnomad_r4", "id": "12-51915274-G-A", "variant": "12:51915274 G / A" } ] }, "genomicAlleles": [ { "chromosome": "12", "coordinates": [ { "allele": "A", "end": 51915274, "referenceAllele": "G", "start": 51915273 } ], "hgvs": [ "NC_000012.12:g.51915274G>A", "CM000674.2:g.51915274G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000060" }, { "chromosome": "12", "coordinates": [ { "allele": "A", "end": 52309058, "referenceAllele": "G", "start": 52309057 } ], "hgvs": [ "NC_000012.11:g.52309058G>A", "CM000674.1:g.52309058G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000036" }, { "chromosome": "12", "coordinates": [ { "allele": "A", "end": 50595325, "referenceAllele": "G", "start": 50595324 } ], "hgvs": [ "NC_000012.10:g.50595325G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000012" }, { "coordinates": [ { "allele": "A", "end": 12857, "referenceAllele": "G", "start": 12856 } ], "hgvs": [ "NG_009549.1:g.12857G>A", "LRG_543:g.12857G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001604" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 656, "referenceAllele": "G", "start": 655 } ], "gene": "http://reg.genome.network/gene/GN000175", "geneNCBI_id": 94, "geneSymbol": "ACVRL1", "hgvs": [ "ENST00000547400.6:c.552G>A" ], "proteinEffect": { "hgvs": "ENSP00000446724.2:p.Trp184Ter", "hgvsWellDefined": "ENSP00000446724.2:p.Trp184_Gln413delinsLeuIleThrHisTyrHisGluHisGlySerLeuTyrAspPheLeuGlnArgGlnThrLeuGluProHisLeuAlaLeuArgLeuAlaValSerAlaAlaCysGlyLeuAlaHisLeuHisValGluIlePheGlyThrGlnGlyLysProAlaIleAlaHisArgAspPheLysSerArgAsnValLeuValLysSerAsnLeuGlnCysCysIleAlaAspLeuGlyLeuAlaValMetHisSerGlnGlySerAspTyrLeuAspIleGlyAsnAsnProArgValGlyThrLysArgTyrMetAlaProGluValLeuAspGluGlnIleArgThrAspCysPheGluSerTyrLysTrpThrAspIleTrpAlaPheGlyLeuValLeuTrpGluIleAlaArgArgThrIleValAsnGlyIleValGluAspTyrArgProProPheTyrAspValValProAsnAspProSerPheGluAspMetLysLysValValCysValAspGlnGlnThrProThrIleProAsnArgLeuAlaAlaAspProValLeuSerGlyLeuAlaGlnMetMetArgGluCysTrpTyrProAsnProSerAlaArgLeuThrAlaLeuArgIleLysLysThrLeuGlnLysIleSerAsnSerProGluLysProLysValIleGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914257" }, { "coordinates": [ { "allele": "A", "end": 1112, "referenceAllele": "G", "start": 1111 } ], "gene": "http://reg.genome.network/gene/GN000175", "geneNCBI_id": 94, "geneSymbol": "ACVRL1", "hgvs": [ "ENST00000551576.6:c.822G>A" ], "proteinEffect": { "hgvs": "ENSP00000455848.2:p.Trp274Ter", "hgvsWellDefined": "ENSP00000455848.2:p.Trp274_Gln503delinsLeuIleThrHisTyrHisGluHisGlySerLeuTyrAspPheLeuGlnArgGlnThrLeuGluProHisLeuAlaLeuArgLeuAlaValSerAlaAlaCysGlyLeuAlaHisLeuHisValGluIlePheGlyThrGlnGlyLysProAlaIleAlaHisArgAspPheLysSerArgAsnValLeuValLysSerAsnLeuGlnCysCysIleAlaAspLeuGlyLeuAlaValMetHisSerGlnGlySerAspTyrLeuAspIleGlyAsnAsnProArgValGlyThrLysArgTyrMetAlaProGluValLeuAspGluGlnIleArgThrAspCysPheGluSerTyrLysTrpThrAspIleTrpAlaPheGlyLeuValLeuTrpGluIleAlaArgArgThrIleValAsnGlyIleValGluAspTyrArgProProPheTyrAspValValProAsnAspProSerPheGluAspMetLysLysValValCysValAspGlnGlnThrProThrIleProAsnArgLeuAlaAlaAspProValLeuSerGlyLeuAlaGlnMetMetArgGluCysTrpTyrProAsnProSerAlaArgLeuThrAlaLeuArgIleLysLysThrLeuGlnLysIleSerAsnSerProGluLysProLysValIleGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914260" }, { "coordinates": [ { "allele": "A", "end": 902, "referenceAllele": "G", "start": 901 } ], "gene": "http://reg.genome.network/gene/GN000175", "geneNCBI_id": 94, "geneSymbol": "ACVRL1", "hgvs": [ "ENST00000552678.2:c.822G>A" ], "proteinEffect": { "hgvs": "ENSP00000457394.2:p.Trp274Ter", "hgvsWellDefined": "ENSP00000457394.2:p.Trp274_Tyr494delinsLeuIleThrHisTyrHisGluHisGlySerLeuTyrAspPheLeuGlnArgGlnThrLeuGluProHisLeuAlaLeuArgLeuAlaValSerAlaAlaCysGlyLeuAlaHisLeuHisValGluIlePheGlyThrGlnGlyLysProAlaIleAlaHisArgAspPheLysSerArgAsnValLeuValLysSerAsnLeuGlnCysCysIleAlaAspLeuGlyLeuAlaValMetHisSerGlnGlySerAspTyrLeuAspIleGlyAsnAsnProArgValGlyThrLysArgTyrMetAlaProGluValLeuAspGluGlnIleArgThrAspCysPheGluSerTyrLysTrpThrAspIleTrpAlaPheGlyLeuValLeuTrpGluIleAlaArgArgThrIleValAsnGlyIleValGluAspTyrArgProProPheTyrAspValValProAsnAspProSerPheGluAspMetLysLysValValCysValAspGlnGlnThrProThrIleProAsnArgLeuAlaAlaAspProValArgProLeuLeuGlyLeuGlyTrpArgGlyValValAlaHisGlyTrpAspPheTrpAlaGlnGluLeuValSerGluAlaSerAlaSerSerHisArgTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914262" }, { "coordinates": [ { "allele": "A", "end": 1019, "referenceAllele": "G", "start": 1018 } ], "gene": "http://reg.genome.network/gene/GN000175", "geneNCBI_id": 94, "geneSymbol": "ACVRL1", "hgvs": [ "ENST00000388922.9:c.822G>A" ], "proteinEffect": { "hgvs": "ENSP00000373574.4:p.Trp274Ter", "hgvsWellDefined": "ENSP00000373574.4:p.Trp274_Gln503delinsLeuIleThrHisTyrHisGluHisGlySerLeuTyrAspPheLeuGlnArgGlnThrLeuGluProHisLeuAlaLeuArgLeuAlaValSerAlaAlaCysGlyLeuAlaHisLeuHisValGluIlePheGlyThrGlnGlyLysProAlaIleAlaHisArgAspPheLysSerArgAsnValLeuValLysSerAsnLeuGlnCysCysIleAlaAspLeuGlyLeuAlaValMetHisSerGlnGlySerAspTyrLeuAspIleGlyAsnAsnProArgValGlyThrLysArgTyrMetAlaProGluValLeuAspGluGlnIleArgThrAspCysPheGluSerTyrLysTrpThrAspIleTrpAlaPheGlyLeuValLeuTrpGluIleAlaArgArgThrIleValAsnGlyIleValGluAspTyrArgProProPheTyrAspValValProAsnAspProSerPheGluAspMetLysLysValValCysValAspGlnGlnThrProThrIleProAsnArgLeuAlaAlaAspProValLeuSerGlyLeuAlaGlnMetMetArgGluCysTrpTyrProAsnProSerAlaArgLeuThrAlaLeuArgIleLysLysThrLeuGlnLysIleSerAsnSerProGluLysProLysValIleGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS752763", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000388922.9:c.822G>A" }, "RefSeq": { "hgvs": "NM_000020.3:c.822G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000373574.4:p.Trp274Ter" }, "RefSeq": { "hgvs": "NP_000011.2:p.Trp274Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1105, "referenceAllele": "G", "start": 1104 } ], "gene": "http://reg.genome.network/gene/GN000175", "geneNCBI_id": 94, "geneSymbol": "ACVRL1", "hgvs": [ "ENST00000388922.8:c.822G>A" ], "proteinEffect": { "hgvs": "ENSP00000373574.4:p.Trp274Ter", "hgvsWellDefined": "ENSP00000373574.4:p.Trp274_Gln503delinsLeuIleThrHisTyrHisGluHisGlySerLeuTyrAspPheLeuGlnArgGlnThrLeuGluProHisLeuAlaLeuArgLeuAlaValSerAlaAlaCysGlyLeuAlaHisLeuHisValGluIlePheGlyThrGlnGlyLysProAlaIleAlaHisArgAspPheLysSerArgAsnValLeuValLysSerAsnLeuGlnCysCysIleAlaAspLeuGlyLeuAlaValMetHisSerGlnGlySerAspTyrLeuAspIleGlyAsnAsnProArgValGlyThrLysArgTyrMetAlaProGluValLeuAspGluGlnIleArgThrAspCysPheGluSerTyrLysTrpThrAspIleTrpAlaPheGlyLeuValLeuTrpGluIleAlaArgArgThrIleValAsnGlyIleValGluAspTyrArgProProPheTyrAspValValProAsnAspProSerPheGluAspMetLysLysValValCysValAspGlnGlnThrProThrIleProAsnArgLeuAlaAlaAspProValLeuSerGlyLeuAlaGlnMetMetArgGluCysTrpTyrProAsnProSerAlaArgLeuThrAlaLeuArgIleLysLysThrLeuGlnLysIleSerAsnSerProGluLysProLysValIleGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS274102" }, { "coordinates": [ { "allele": "A", "end": 362, "referenceAllele": "G", "start": 361 } ], "gene": "http://reg.genome.network/gene/GN000175", "geneNCBI_id": 94, "geneSymbol": "ACVRL1", "hgvs": [ "ENST00000419526.6:c.300G>A" ], "proteinEffect": { "hgvs": "ENSP00000392492.2:p.Trp100Ter", "hgvsWellDefined": "ENSP00000392492.2:p.Trp100_Gln329delinsLeuIleThrHisTyrHisGluHisGlySerLeuTyrAspPheLeuGlnArgGlnThrLeuGluProHisLeuAlaLeuArgLeuAlaValSerAlaAlaCysGlyLeuAlaHisLeuHisValGluIlePheGlyThrGlnGlyLysProAlaIleAlaHisArgAspPheLysSerArgAsnValLeuValLysSerAsnLeuGlnCysCysIleAlaAspLeuGlyLeuAlaValMetHisSerGlnGlySerAspTyrLeuAspIleGlyAsnAsnProArgValGlyThrLysArgTyrMetAlaProGluValLeuAspGluGlnIleArgThrAspCysPheGluSerTyrLysTrpThrAspIleTrpAlaPheGlyLeuValLeuTrpGluIleAlaArgArgThrIleValAsnGlyIleValGluAspTyrArgProProPheTyrAspValValProAsnAspProSerPheGluAspMetLysLysValValCysValAspGlnGlnThrProThrIleProAsnArgLeuAlaAlaAspProValLeuSerGlyLeuAlaGlnMetMetArgGluCysTrpTyrProAsnProSerAlaArgLeuThrAlaLeuArgIleLysLysThrLeuGlnLysIleSerAsnSerProGluLysProLysValIleGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS285930" }, { "coordinates": [ { "allele": "A", "end": 965, "referenceAllele": "G", "start": 964 } ], "gene": "http://reg.genome.network/gene/GN000175", "geneNCBI_id": 94, "geneSymbol": "ACVRL1", "hgvs": [ "ENST00000550683.5:c.864G>A" ], "proteinEffect": { "hgvs": "ENSP00000447884.1:p.Trp288Ter", "hgvsWellDefined": "ENSP00000447884.1:p.Trp288_Gln517delinsLeuIleThrHisTyrHisGluHisGlySerLeuTyrAspPheLeuGlnArgGlnThrLeuGluProHisLeuAlaLeuArgLeuAlaValSerAlaAlaCysGlyLeuAlaHisLeuHisValGluIlePheGlyThrGlnGlyLysProAlaIleAlaHisArgAspPheLysSerArgAsnValLeuValLysSerAsnLeuGlnCysCysIleAlaAspLeuGlyLeuAlaValMetHisSerGlnGlySerAspTyrLeuAspIleGlyAsnAsnProArgValGlyThrLysArgTyrMetAlaProGluValLeuAspGluGlnIleArgThrAspCysPheGluSerTyrLysTrpThrAspIleTrpAlaPheGlyLeuValLeuTrpGluIleAlaArgArgThrIleValAsnGlyIleValGluAspTyrArgProProPheTyrAspValValProAsnAspProSerPheGluAspMetLysLysValValCysValAspGlnGlnThrProThrIleProAsnArgLeuAlaAlaAspProValLeuSerGlyLeuAlaGlnMetMetArgGluCysTrpTyrProAsnProSerAlaArgLeuThrAlaLeuArgIleLysLysThrLeuGlnLysIleSerAsnSerProGluLysProLysValIleGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS368202" }, { "@id": "http://reg.genome.network/allele/PA645430282", "coordinates": [ { "allele": "A", "end": 1105, "referenceAllele": "G", "start": 1104 } ], "gene": "http://reg.genome.network/gene/GN000175", "geneNCBI_id": 94, "geneSymbol": "ACVRL1", "hgvs": [ "NM_000020.2:c.822G>A", "LRG_543t1:c.822G>A" ], "proteinEffect": { "hgvs": "NP_000011.2:p.Trp274Ter", "hgvsWellDefined": "NP_000011.2:p.Trp274_Gln503delinsLeuIleThrHisTyrHisGluHisGlySerLeuTyrAspPheLeuGlnArgGlnThrLeuGluProHisLeuAlaLeuArgLeuAlaValSerAlaAlaCysGlyLeuAlaHisLeuHisValGluIlePheGlyThrGlnGlyLysProAlaIleAlaHisArgAspPheLysSerArgAsnValLeuValLysSerAsnLeuGlnCysCysIleAlaAspLeuGlyLeuAlaValMetHisSerGlnGlySerAspTyrLeuAspIleGlyAsnAsnProArgValGlyThrLysArgTyrMetAlaProGluValLeuAspGluGlnIleArgThrAspCysPheGluSerTyrLysTrpThrAspIleTrpAlaPheGlyLeuValLeuTrpGluIleAlaArgArgThrIleValAsnGlyIleValGluAspTyrArgProProPheTyrAspValValProAsnAspProSerPheGluAspMetLysLysValValCysValAspGlnGlnThrProThrIleProAsnArgLeuAlaAlaAspProValLeuSerGlyLeuAlaGlnMetMetArgGluCysTrpTyrProAsnProSerAlaArgLeuThrAlaLeuArgIleLysLysThrLeuGlnLysIleSerAsnSerProGluLysProLysValIleGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006085" }, { "@id": "http://reg.genome.network/allele/PA915963536", "coordinates": [ { "allele": "A", "end": 968, "referenceAllele": "G", "start": 967 } ], "gene": "http://reg.genome.network/gene/GN000175", "geneNCBI_id": 94, "geneSymbol": "ACVRL1", "hgvs": [ "NM_001077401.1:c.822G>A" ], "proteinEffect": { "hgvs": "NP_001070869.1:p.Trp274Ter", "hgvsWellDefined": "NP_001070869.1:p.Trp274_Gln503delinsLeuIleThrHisTyrHisGluHisGlySerLeuTyrAspPheLeuGlnArgGlnThrLeuGluProHisLeuAlaLeuArgLeuAlaValSerAlaAlaCysGlyLeuAlaHisLeuHisValGluIlePheGlyThrGlnGlyLysProAlaIleAlaHisArgAspPheLysSerArgAsnValLeuValLysSerAsnLeuGlnCysCysIleAlaAspLeuGlyLeuAlaValMetHisSerGlnGlySerAspTyrLeuAspIleGlyAsnAsnProArgValGlyThrLysArgTyrMetAlaProGluValLeuAspGluGlnIleArgThrAspCysPheGluSerTyrLysTrpThrAspIleTrpAlaPheGlyLeuValLeuTrpGluIleAlaArgArgThrIleValAsnGlyIleValGluAspTyrArgProProPheTyrAspValValProAsnAspProSerPheGluAspMetLysLysValValCysValAspGlnGlnThrProThrIleProAsnArgLeuAlaAlaAspProValLeuSerGlyLeuAlaGlnMetMetArgGluCysTrpTyrProAsnProSerAlaArgLeuThrAlaLeuArgIleLysLysThrLeuGlnLysIleSerAsnSerProGluLysProLysValIleGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009968" }, { "coordinates": [ { "allele": "A", "end": 1107, "referenceAllele": "G", "start": 1106 } ], "gene": "http://reg.genome.network/gene/GN000175", "geneNCBI_id": 94, "geneSymbol": "ACVRL1", "hgvs": [ "XM_005269235.2:c.822G>A" ], "proteinEffect": { "hgvs": "XP_005269292.1:p.Trp274Ter", "hgvsWellDefined": "XP_005269292.1:p.Trp274_Gln503delinsLeuIleThrHisTyrHisGluHisGlySerLeuTyrAspPheLeuGlnArgGlnThrLeuGluProHisLeuAlaLeuArgLeuAlaValSerAlaAlaCysGlyLeuAlaHisLeuHisValGluIlePheGlyThrGlnGlyLysProAlaIleAlaHisArgAspPheLysSerArgAsnValLeuValLysSerAsnLeuGlnCysCysIleAlaAspLeuGlyLeuAlaValMetHisSerGlnGlySerAspTyrLeuAspIleGlyAsnAsnProArgValGlyThrLysArgTyrMetAlaProGluValLeuAspGluGlnIleArgThrAspCysPheGluSerTyrLysTrpThrAspIleTrpAlaPheGlyLeuValLeuTrpGluIleAlaArgArgThrIleValAsnGlyIleValGluAspTyrArgProProPheTyrAspValValProAsnAspProSerPheGluAspMetLysLysValValCysValAspGlnGlnThrProThrIleProAsnArgLeuAlaAlaAspProValLeuSerGlyLeuAlaGlnMetMetArgGluCysTrpTyrProAsnProSerAlaArgLeuThrAlaLeuArgIleLysLysThrLeuGlnLysIleSerAsnSerProGluLysProLysValIleGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS066074" }, { "coordinates": [ { "allele": "A", "end": 651, "referenceAllele": "G", "start": 650 } ], "gene": "http://reg.genome.network/gene/GN000175", "geneNCBI_id": 94, "geneSymbol": "ACVRL1", "hgvs": [ "XM_011539008.1:c.552G>A" ], "proteinEffect": { "hgvs": "XP_011537310.1:p.Trp184Ter", "hgvsWellDefined": "XP_011537310.1:p.Trp184_Gln413delinsLeuIleThrHisTyrHisGluHisGlySerLeuTyrAspPheLeuGlnArgGlnThrLeuGluProHisLeuAlaLeuArgLeuAlaValSerAlaAlaCysGlyLeuAlaHisLeuHisValGluIlePheGlyThrGlnGlyLysProAlaIleAlaHisArgAspPheLysSerArgAsnValLeuValLysSerAsnLeuGlnCysCysIleAlaAspLeuGlyLeuAlaValMetHisSerGlnGlySerAspTyrLeuAspIleGlyAsnAsnProArgValGlyThrLysArgTyrMetAlaProGluValLeuAspGluGlnIleArgThrAspCysPheGluSerTyrLysTrpThrAspIleTrpAlaPheGlyLeuValLeuTrpGluIleAlaArgArgThrIleValAsnGlyIleValGluAspTyrArgProProPheTyrAspValValProAsnAspProSerPheGluAspMetLysLysValValCysValAspGlnGlnThrProThrIleProAsnArgLeuAlaAlaAspProValLeuSerGlyLeuAlaGlnMetMetArgGluCysTrpTyrProAsnProSerAlaArgLeuThrAlaLeuArgIleLysLysThrLeuGlnLysIleSerAsnSerProGluLysProLysValIleGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105961" }, { "coordinates": [ { "allele": "A", "end": 481, "referenceAllele": "G", "start": 480 } ], "gene": "http://reg.genome.network/gene/GN000175", "geneNCBI_id": 94, "geneSymbol": "ACVRL1", "hgvs": [ "XM_024449279.1:c.33G>A" ], "proteinEffect": { "hgvs": "XP_024305047.1:p.Trp11Ter", "hgvsWellDefined": "XP_024305047.1:p.Trp11_Gln240delinsLeuIleThrHisTyrHisGluHisGlySerLeuTyrAspPheLeuGlnArgGlnThrLeuGluProHisLeuAlaLeuArgLeuAlaValSerAlaAlaCysGlyLeuAlaHisLeuHisValGluIlePheGlyThrGlnGlyLysProAlaIleAlaHisArgAspPheLysSerArgAsnValLeuValLysSerAsnLeuGlnCysCysIleAlaAspLeuGlyLeuAlaValMetHisSerGlnGlySerAspTyrLeuAspIleGlyAsnAsnProArgValGlyThrLysArgTyrMetAlaProGluValLeuAspGluGlnIleArgThrAspCysPheGluSerTyrLysTrpThrAspIleTrpAlaPheGlyLeuValLeuTrpGluIleAlaArgArgThrIleValAsnGlyIleValGluAspTyrArgProProPheTyrAspValValProAsnAspProSerPheGluAspMetLysLysValValCysValAspGlnGlnThrProThrIleProAsnArgLeuAlaAlaAspProValLeuSerGlyLeuAlaGlnMetMetArgGluCysTrpTyrProAsnProSerAlaArgLeuThrAlaLeuArgIleLysLysThrLeuGlnLysIleSerAsnSerProGluLysProLysValIleGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS582837" }, { "@id": "http://reg.genome.network/allele/PA645430282", "coordinates": [ { "allele": "A", "end": 1019, "referenceAllele": "G", "start": 1018 } ], "gene": "http://reg.genome.network/gene/GN000175", "geneNCBI_id": 94, "geneSymbol": "ACVRL1", "hgvs": [ "NM_000020.3:c.822G>A" ], "proteinEffect": { "hgvs": "NP_000011.2:p.Trp274Ter", "hgvsWellDefined": "NP_000011.2:p.Trp274_Gln503delinsLeuIleThrHisTyrHisGluHisGlySerLeuTyrAspPheLeuGlnArgGlnThrLeuGluProHisLeuAlaLeuArgLeuAlaValSerAlaAlaCysGlyLeuAlaHisLeuHisValGluIlePheGlyThrGlnGlyLysProAlaIleAlaHisArgAspPheLysSerArgAsnValLeuValLysSerAsnLeuGlnCysCysIleAlaAspLeuGlyLeuAlaValMetHisSerGlnGlySerAspTyrLeuAspIleGlyAsnAsnProArgValGlyThrLysArgTyrMetAlaProGluValLeuAspGluGlnIleArgThrAspCysPheGluSerTyrLysTrpThrAspIleTrpAlaPheGlyLeuValLeuTrpGluIleAlaArgArgThrIleValAsnGlyIleValGluAspTyrArgProProPheTyrAspValValProAsnAspProSerPheGluAspMetLysLysValValCysValAspGlnGlnThrProThrIleProAsnArgLeuAlaAlaAspProValLeuSerGlyLeuAlaGlnMetMetArgGluCysTrpTyrProAsnProSerAlaArgLeuThrAlaLeuArgIleLysLysThrLeuGlnLysIleSerAsnSerProGluLysProLysValIleGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674671", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000388922.9:c.822G>A" }, "RefSeq": { "hgvs": "NM_000020.3:c.822G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000373574.4:p.Trp274Ter" }, "RefSeq": { "hgvs": "NP_000011.2:p.Trp274Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA915963536", "coordinates": [ { "allele": "A", "end": 914, "referenceAllele": "G", "start": 913 } ], "gene": "http://reg.genome.network/gene/GN000175", "geneNCBI_id": 94, "geneSymbol": "ACVRL1", "hgvs": [ "NM_001077401.2:c.822G>A" ], "proteinEffect": { "hgvs": "NP_001070869.1:p.Trp274Ter", "hgvsWellDefined": "NP_001070869.1:p.Trp274_Gln503delinsLeuIleThrHisTyrHisGluHisGlySerLeuTyrAspPheLeuGlnArgGlnThrLeuGluProHisLeuAlaLeuArgLeuAlaValSerAlaAlaCysGlyLeuAlaHisLeuHisValGluIlePheGlyThrGlnGlyLysProAlaIleAlaHisArgAspPheLysSerArgAsnValLeuValLysSerAsnLeuGlnCysCysIleAlaAspLeuGlyLeuAlaValMetHisSerGlnGlySerAspTyrLeuAspIleGlyAsnAsnProArgValGlyThrLysArgTyrMetAlaProGluValLeuAspGluGlnIleArgThrAspCysPheGluSerTyrLysTrpThrAspIleTrpAlaPheGlyLeuValLeuTrpGluIleAlaArgArgThrIleValAsnGlyIleValGluAspTyrArgProProPheTyrAspValValProAsnAspProSerPheGluAspMetLysLysValValCysValAspGlnGlnThrProThrIleProAsnArgLeuAlaAlaAspProValLeuSerGlyLeuAlaGlnMetMetArgGluCysTrpTyrProAsnProSerAlaArgLeuThrAlaLeuArgIleLysLysThrLeuGlnLysIleSerAsnSerProGluLysProLysValIleGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676153" } ], "type": "nucleotide" }