{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA321605", "communityStandardTitle": [ "NM_000020.3(ACVRL1):c.430C>T (p.Arg144Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1628668", "active": true, "id": "COSM1628668" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=210228[alleleid]", "alleleId": 210228, "preferredName": "NM_000020.3(ACVRL1):c.430C>T (p.Arg144Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/212804", "RCV": [ "RCV000488769", "RCV000472148", "RCV000755781", "RCV002327029" ], "variationId": 212804 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/12-52307459-C-T", "id": "12-52307459-C-T", "variant": "12:52307459 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr12:g.52307459C>T?assembly=hg19", "id": "chr12:g.52307459C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr12:g.51913675C>T?assembly=hg38", "id": "chr12:g.51913675C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/758683062", "rs": 758683062 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/12-52307459-C-T?dataset=gnomad_r2_1", "id": "12-52307459-C-T", "variant": "12:52307459 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/12-51913675-C-T?dataset=gnomad_r4", "id": "12-51913675-C-T", "variant": "12:51913675 C / T" } ] }, "genomicAlleles": [ { "chromosome": "12", "coordinates": [ { "allele": "T", "end": 51913675, "referenceAllele": "C", "start": 51913674 } ], "hgvs": [ "NC_000012.12:g.51913675C>T", "CM000674.2:g.51913675C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000060" }, { "chromosome": "12", "coordinates": [ { "allele": "T", "end": 52307459, "referenceAllele": "C", "start": 52307458 } ], "hgvs": [ "NC_000012.11:g.52307459C>T", "CM000674.1:g.52307459C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000036" }, { "chromosome": "12", "coordinates": [ { "allele": "T", "end": 50593726, "referenceAllele": "C", "start": 50593725 } ], "hgvs": [ "NC_000012.10:g.50593726C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000012" }, { "coordinates": [ { "allele": "T", "end": 11258, "referenceAllele": "C", "start": 11257 } ], "hgvs": [ "NG_009549.1:g.11258C>T", "LRG_543:g.11258C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001604" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 459, "endIntronDirection": "+", "endIntronOffset": 325, "referenceAllele": "C", "start": 459, "startIntronDirection": "+", "startIntronOffset": 324 } ], "gene": "http://reg.genome.network/gene/GN000175", "geneNCBI_id": 94, "geneSymbol": "ACVRL1", "hgvs": [ "ENST00000547400.6:c.355+325C>T" ], "proteinEffect": { "hgvs": "ENSP00000446724.2:n.355+325C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS914257" }, { "coordinates": [ { "allele": "T", "end": 720, "referenceAllele": "C", "start": 719 } ], "gene": "http://reg.genome.network/gene/GN000175", "geneNCBI_id": 94, "geneSymbol": "ACVRL1", "hgvs": [ "ENST00000551576.6:c.430C>T" ], "proteinEffect": { "hgvs": "ENSP00000455848.2:p.Arg144Ter", "hgvsWellDefined": "ENSP00000455848.2:p.Arg146_Gln503delinsGlnGluLysGlnArgGlyLeuHisSerGluLeuGlyGluSerSerLeuIleLeuLysAlaSerGluGlnGlyAspSerMetLeuGlyAspLeuLeuAspSerAspCysThrThrGlySerGlySerGlyLeuProPheLeuValGlnArgThrValAlaArgGlnValAlaLeuValGluCysValGlyLysGlyArgTyrGlyGluValTrpArgGlyLeuTrpHisGlyGluSerValAlaValLysIlePheSerSerArgAspGluGlnSerTrpPheArgGluThrGluIleTyrAsnThrValLeuLeuArgHisAspAsnIleLeuGlyPheIleAlaSerAspMetThrSerArgAsnSerSerThrGlnLeuTrpLeuIleThrHisTyrHisGluHisGlySerLeuTyrAspPheLeuGlnArgGlnThrLeuGluProHisLeuAlaLeuArgLeuAlaValSerAlaAlaCysGlyLeuAlaHisLeuHisValGluIlePheGlyThrGlnGlyLysProAlaIleAlaHisArgAspPheLysSerArgAsnValLeuValLysSerAsnLeuGlnCysCysIleAlaAspLeuGlyLeuAlaValMetHisSerGlnGlySerAspTyrLeuAspIleGlyAsnAsnProArgValGlyThrLysArgTyrMetAlaProGluValLeuAspGluGlnIleArgThrAspCysPheGluSerTyrLysTrpThrAspIleTrpAlaPheGlyLeuValLeuTrpGluIleAlaArgArgThrIleValAsnGlyIleValGluAspTyrArgProProPheTyrAspValValProAsnAspProSerPheGluAspMetLysLysValValCysValAspGlnGlnThrProThrIleProAsnArgLeuAlaAlaAspProValLeuSerGlyLeuAlaGlnMetMetArgGluCysTrpTyrProAsnProSerAlaArgLeuThrAlaLeuArgIleLysLysThrLeuGlnLysIleSerAsnSerProGluLysProLysValIleGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914260" }, { "coordinates": [ { "allele": "T", "end": 510, "referenceAllele": "C", "start": 509 } ], "gene": "http://reg.genome.network/gene/GN000175", "geneNCBI_id": 94, "geneSymbol": "ACVRL1", "hgvs": [ "ENST00000552678.2:c.430C>T" ], "proteinEffect": { "hgvs": "ENSP00000457394.2:p.Arg144Ter", "hgvsWellDefined": "ENSP00000457394.2:p.Arg146_Tyr494delinsGlnGluLysGlnArgGlyLeuHisSerGluLeuGlyGluSerSerLeuIleLeuLysAlaSerGluGlnGlyAspSerMetLeuGlyAspLeuLeuAspSerAspCysThrThrGlySerGlySerGlyLeuProPheLeuValGlnArgThrValAlaArgGlnValAlaLeuValGluCysValGlyLysGlyArgTyrGlyGluValTrpArgGlyLeuTrpHisGlyGluSerValAlaValLysIlePheSerSerArgAspGluGlnSerTrpPheArgGluThrGluIleTyrAsnThrValLeuLeuArgHisAspAsnIleLeuGlyPheIleAlaSerAspMetThrSerArgAsnSerSerThrGlnLeuTrpLeuIleThrHisTyrHisGluHisGlySerLeuTyrAspPheLeuGlnArgGlnThrLeuGluProHisLeuAlaLeuArgLeuAlaValSerAlaAlaCysGlyLeuAlaHisLeuHisValGluIlePheGlyThrGlnGlyLysProAlaIleAlaHisArgAspPheLysSerArgAsnValLeuValLysSerAsnLeuGlnCysCysIleAlaAspLeuGlyLeuAlaValMetHisSerGlnGlySerAspTyrLeuAspIleGlyAsnAsnProArgValGlyThrLysArgTyrMetAlaProGluValLeuAspGluGlnIleArgThrAspCysPheGluSerTyrLysTrpThrAspIleTrpAlaPheGlyLeuValLeuTrpGluIleAlaArgArgThrIleValAsnGlyIleValGluAspTyrArgProProPheTyrAspValValProAsnAspProSerPheGluAspMetLysLysValValCysValAspGlnGlnThrProThrIleProAsnArgLeuAlaAlaAspProValArgProLeuLeuGlyLeuGlyTrpArgGlyValValAlaHisGlyTrpAspPheTrpAlaGlnGluLeuValSerGluAlaSerAlaSerSerHisArgTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914262" }, { "coordinates": [ { "allele": "T", "end": 627, "referenceAllele": "C", "start": 626 } ], "gene": "http://reg.genome.network/gene/GN000175", "geneNCBI_id": 94, "geneSymbol": "ACVRL1", "hgvs": [ "ENST00000388922.9:c.430C>T" ], "proteinEffect": { "hgvs": "ENSP00000373574.4:p.Arg144Ter", "hgvsWellDefined": "ENSP00000373574.4:p.Arg146_Gln503delinsGlnGluLysGlnArgGlyLeuHisSerGluLeuGlyGluSerSerLeuIleLeuLysAlaSerGluGlnGlyAspSerMetLeuGlyAspLeuLeuAspSerAspCysThrThrGlySerGlySerGlyLeuProPheLeuValGlnArgThrValAlaArgGlnValAlaLeuValGluCysValGlyLysGlyArgTyrGlyGluValTrpArgGlyLeuTrpHisGlyGluSerValAlaValLysIlePheSerSerArgAspGluGlnSerTrpPheArgGluThrGluIleTyrAsnThrValLeuLeuArgHisAspAsnIleLeuGlyPheIleAlaSerAspMetThrSerArgAsnSerSerThrGlnLeuTrpLeuIleThrHisTyrHisGluHisGlySerLeuTyrAspPheLeuGlnArgGlnThrLeuGluProHisLeuAlaLeuArgLeuAlaValSerAlaAlaCysGlyLeuAlaHisLeuHisValGluIlePheGlyThrGlnGlyLysProAlaIleAlaHisArgAspPheLysSerArgAsnValLeuValLysSerAsnLeuGlnCysCysIleAlaAspLeuGlyLeuAlaValMetHisSerGlnGlySerAspTyrLeuAspIleGlyAsnAsnProArgValGlyThrLysArgTyrMetAlaProGluValLeuAspGluGlnIleArgThrAspCysPheGluSerTyrLysTrpThrAspIleTrpAlaPheGlyLeuValLeuTrpGluIleAlaArgArgThrIleValAsnGlyIleValGluAspTyrArgProProPheTyrAspValValProAsnAspProSerPheGluAspMetLysLysValValCysValAspGlnGlnThrProThrIleProAsnArgLeuAlaAlaAspProValLeuSerGlyLeuAlaGlnMetMetArgGluCysTrpTyrProAsnProSerAlaArgLeuThrAlaLeuArgIleLysLysThrLeuGlnLysIleSerAsnSerProGluLysProLysValIleGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS752763", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000388922.9:c.430C>T" }, "RefSeq": { "hgvs": "NM_000020.3:c.430C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000373574.4:p.Arg144Ter" }, "RefSeq": { "hgvs": "NP_000011.2:p.Arg144Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 713, "referenceAllele": "C", "start": 712 } ], "gene": "http://reg.genome.network/gene/GN000175", "geneNCBI_id": 94, "geneSymbol": "ACVRL1", "hgvs": [ "ENST00000388922.8:c.430C>T" ], "proteinEffect": { "hgvs": "ENSP00000373574.4:p.Arg144Ter", "hgvsWellDefined": "ENSP00000373574.4:p.Arg146_Gln503delinsGlnGluLysGlnArgGlyLeuHisSerGluLeuGlyGluSerSerLeuIleLeuLysAlaSerGluGlnGlyAspSerMetLeuGlyAspLeuLeuAspSerAspCysThrThrGlySerGlySerGlyLeuProPheLeuValGlnArgThrValAlaArgGlnValAlaLeuValGluCysValGlyLysGlyArgTyrGlyGluValTrpArgGlyLeuTrpHisGlyGluSerValAlaValLysIlePheSerSerArgAspGluGlnSerTrpPheArgGluThrGluIleTyrAsnThrValLeuLeuArgHisAspAsnIleLeuGlyPheIleAlaSerAspMetThrSerArgAsnSerSerThrGlnLeuTrpLeuIleThrHisTyrHisGluHisGlySerLeuTyrAspPheLeuGlnArgGlnThrLeuGluProHisLeuAlaLeuArgLeuAlaValSerAlaAlaCysGlyLeuAlaHisLeuHisValGluIlePheGlyThrGlnGlyLysProAlaIleAlaHisArgAspPheLysSerArgAsnValLeuValLysSerAsnLeuGlnCysCysIleAlaAspLeuGlyLeuAlaValMetHisSerGlnGlySerAspTyrLeuAspIleGlyAsnAsnProArgValGlyThrLysArgTyrMetAlaProGluValLeuAspGluGlnIleArgThrAspCysPheGluSerTyrLysTrpThrAspIleTrpAlaPheGlyLeuValLeuTrpGluIleAlaArgArgThrIleValAsnGlyIleValGluAspTyrArgProProPheTyrAspValValProAsnAspProSerPheGluAspMetLysLysValValCysValAspGlnGlnThrProThrIleProAsnArgLeuAlaAlaAspProValLeuSerGlyLeuAlaGlnMetMetArgGluCysTrpTyrProAsnProSerAlaArgLeuThrAlaLeuArgIleLysLysThrLeuGlnLysIleSerAsnSerProGluLysProLysValIleGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS274102" }, { "coordinates": [ { "allele": "T", "end": 165, "endIntronDirection": "-", "endIntronOffset": 763, "referenceAllele": "C", "start": 165, "startIntronDirection": "-", "startIntronOffset": 764 } ], "gene": "http://reg.genome.network/gene/GN000175", "geneNCBI_id": 94, "geneSymbol": "ACVRL1", "hgvs": [ "ENST00000419526.6:c.104-764C>T" ], "proteinEffect": { "hgvs": "ENSP00000392492.2:n.104-764C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS285930" }, { "coordinates": [ { "allele": "T", "end": 459, "endIntronDirection": "+", "endIntronOffset": 325, "referenceAllele": "C", "start": 459, "startIntronDirection": "+", "startIntronOffset": 324 } ], "gene": "http://reg.genome.network/gene/GN000175", "geneNCBI_id": 94, "geneSymbol": "ACVRL1", "hgvs": [ "ENST00000547400.5:c.355+325C>T" ], "proteinEffect": { "hgvs": "ENSP00000446724.1:n.355+325C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS366255" }, { "coordinates": [ { "allele": "T", "end": 573, "referenceAllele": "C", "start": 572 } ], "gene": "http://reg.genome.network/gene/GN000175", "geneNCBI_id": 94, "geneSymbol": "ACVRL1", "hgvs": [ "ENST00000550683.5:c.472C>T" ], "proteinEffect": { "hgvs": "ENSP00000447884.1:p.Arg158Ter", "hgvsWellDefined": "ENSP00000447884.1:p.Arg160_Gln517delinsGlnGluLysGlnArgGlyLeuHisSerGluLeuGlyGluSerSerLeuIleLeuLysAlaSerGluGlnGlyAspSerMetLeuGlyAspLeuLeuAspSerAspCysThrThrGlySerGlySerGlyLeuProPheLeuValGlnArgThrValAlaArgGlnValAlaLeuValGluCysValGlyLysGlyArgTyrGlyGluValTrpArgGlyLeuTrpHisGlyGluSerValAlaValLysIlePheSerSerArgAspGluGlnSerTrpPheArgGluThrGluIleTyrAsnThrValLeuLeuArgHisAspAsnIleLeuGlyPheIleAlaSerAspMetThrSerArgAsnSerSerThrGlnLeuTrpLeuIleThrHisTyrHisGluHisGlySerLeuTyrAspPheLeuGlnArgGlnThrLeuGluProHisLeuAlaLeuArgLeuAlaValSerAlaAlaCysGlyLeuAlaHisLeuHisValGluIlePheGlyThrGlnGlyLysProAlaIleAlaHisArgAspPheLysSerArgAsnValLeuValLysSerAsnLeuGlnCysCysIleAlaAspLeuGlyLeuAlaValMetHisSerGlnGlySerAspTyrLeuAspIleGlyAsnAsnProArgValGlyThrLysArgTyrMetAlaProGluValLeuAspGluGlnIleArgThrAspCysPheGluSerTyrLysTrpThrAspIleTrpAlaPheGlyLeuValLeuTrpGluIleAlaArgArgThrIleValAsnGlyIleValGluAspTyrArgProProPheTyrAspValValProAsnAspProSerPheGluAspMetLysLysValValCysValAspGlnGlnThrProThrIleProAsnArgLeuAlaAlaAspProValLeuSerGlyLeuAlaGlnMetMetArgGluCysTrpTyrProAsnProSerAlaArgLeuThrAlaLeuArgIleLysLysThrLeuGlnLysIleSerAsnSerProGluLysProLysValIleGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS368202" }, { "@id": "http://reg.genome.network/allele/PA321607", "coordinates": [ { "allele": "T", "end": 713, "referenceAllele": "C", "start": 712 } ], "gene": "http://reg.genome.network/gene/GN000175", "geneNCBI_id": 94, "geneSymbol": "ACVRL1", "hgvs": [ "NM_000020.2:c.430C>T", "LRG_543t1:c.430C>T" ], "proteinEffect": { "hgvs": "NP_000011.2:p.Arg144Ter", "hgvsWellDefined": "NP_000011.2:p.Arg146_Gln503delinsGlnGluLysGlnArgGlyLeuHisSerGluLeuGlyGluSerSerLeuIleLeuLysAlaSerGluGlnGlyAspSerMetLeuGlyAspLeuLeuAspSerAspCysThrThrGlySerGlySerGlyLeuProPheLeuValGlnArgThrValAlaArgGlnValAlaLeuValGluCysValGlyLysGlyArgTyrGlyGluValTrpArgGlyLeuTrpHisGlyGluSerValAlaValLysIlePheSerSerArgAspGluGlnSerTrpPheArgGluThrGluIleTyrAsnThrValLeuLeuArgHisAspAsnIleLeuGlyPheIleAlaSerAspMetThrSerArgAsnSerSerThrGlnLeuTrpLeuIleThrHisTyrHisGluHisGlySerLeuTyrAspPheLeuGlnArgGlnThrLeuGluProHisLeuAlaLeuArgLeuAlaValSerAlaAlaCysGlyLeuAlaHisLeuHisValGluIlePheGlyThrGlnGlyLysProAlaIleAlaHisArgAspPheLysSerArgAsnValLeuValLysSerAsnLeuGlnCysCysIleAlaAspLeuGlyLeuAlaValMetHisSerGlnGlySerAspTyrLeuAspIleGlyAsnAsnProArgValGlyThrLysArgTyrMetAlaProGluValLeuAspGluGlnIleArgThrAspCysPheGluSerTyrLysTrpThrAspIleTrpAlaPheGlyLeuValLeuTrpGluIleAlaArgArgThrIleValAsnGlyIleValGluAspTyrArgProProPheTyrAspValValProAsnAspProSerPheGluAspMetLysLysValValCysValAspGlnGlnThrProThrIleProAsnArgLeuAlaAlaAspProValLeuSerGlyLeuAlaGlnMetMetArgGluCysTrpTyrProAsnProSerAlaArgLeuThrAlaLeuArgIleLysLysThrLeuGlnLysIleSerAsnSerProGluLysProLysValIleGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006085" }, { "@id": "http://reg.genome.network/allele/PA915963385", "coordinates": [ { "allele": "T", "end": 576, "referenceAllele": "C", "start": 575 } ], "gene": "http://reg.genome.network/gene/GN000175", "geneNCBI_id": 94, "geneSymbol": "ACVRL1", "hgvs": [ "NM_001077401.1:c.430C>T" ], "proteinEffect": { "hgvs": "NP_001070869.1:p.Arg144Ter", "hgvsWellDefined": "NP_001070869.1:p.Arg146_Gln503delinsGlnGluLysGlnArgGlyLeuHisSerGluLeuGlyGluSerSerLeuIleLeuLysAlaSerGluGlnGlyAspSerMetLeuGlyAspLeuLeuAspSerAspCysThrThrGlySerGlySerGlyLeuProPheLeuValGlnArgThrValAlaArgGlnValAlaLeuValGluCysValGlyLysGlyArgTyrGlyGluValTrpArgGlyLeuTrpHisGlyGluSerValAlaValLysIlePheSerSerArgAspGluGlnSerTrpPheArgGluThrGluIleTyrAsnThrValLeuLeuArgHisAspAsnIleLeuGlyPheIleAlaSerAspMetThrSerArgAsnSerSerThrGlnLeuTrpLeuIleThrHisTyrHisGluHisGlySerLeuTyrAspPheLeuGlnArgGlnThrLeuGluProHisLeuAlaLeuArgLeuAlaValSerAlaAlaCysGlyLeuAlaHisLeuHisValGluIlePheGlyThrGlnGlyLysProAlaIleAlaHisArgAspPheLysSerArgAsnValLeuValLysSerAsnLeuGlnCysCysIleAlaAspLeuGlyLeuAlaValMetHisSerGlnGlySerAspTyrLeuAspIleGlyAsnAsnProArgValGlyThrLysArgTyrMetAlaProGluValLeuAspGluGlnIleArgThrAspCysPheGluSerTyrLysTrpThrAspIleTrpAlaPheGlyLeuValLeuTrpGluIleAlaArgArgThrIleValAsnGlyIleValGluAspTyrArgProProPheTyrAspValValProAsnAspProSerPheGluAspMetLysLysValValCysValAspGlnGlnThrProThrIleProAsnArgLeuAlaAlaAspProValLeuSerGlyLeuAlaGlnMetMetArgGluCysTrpTyrProAsnProSerAlaArgLeuThrAlaLeuArgIleLysLysThrLeuGlnLysIleSerAsnSerProGluLysProLysValIleGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009968" }, { "coordinates": [ { "allele": "T", "end": 715, "referenceAllele": "C", "start": 714 } ], "gene": "http://reg.genome.network/gene/GN000175", "geneNCBI_id": 94, "geneSymbol": "ACVRL1", "hgvs": [ "XM_005269235.2:c.430C>T" ], "proteinEffect": { "hgvs": "XP_005269292.1:p.Arg144Ter", "hgvsWellDefined": "XP_005269292.1:p.Arg146_Gln503delinsGlnGluLysGlnArgGlyLeuHisSerGluLeuGlyGluSerSerLeuIleLeuLysAlaSerGluGlnGlyAspSerMetLeuGlyAspLeuLeuAspSerAspCysThrThrGlySerGlySerGlyLeuProPheLeuValGlnArgThrValAlaArgGlnValAlaLeuValGluCysValGlyLysGlyArgTyrGlyGluValTrpArgGlyLeuTrpHisGlyGluSerValAlaValLysIlePheSerSerArgAspGluGlnSerTrpPheArgGluThrGluIleTyrAsnThrValLeuLeuArgHisAspAsnIleLeuGlyPheIleAlaSerAspMetThrSerArgAsnSerSerThrGlnLeuTrpLeuIleThrHisTyrHisGluHisGlySerLeuTyrAspPheLeuGlnArgGlnThrLeuGluProHisLeuAlaLeuArgLeuAlaValSerAlaAlaCysGlyLeuAlaHisLeuHisValGluIlePheGlyThrGlnGlyLysProAlaIleAlaHisArgAspPheLysSerArgAsnValLeuValLysSerAsnLeuGlnCysCysIleAlaAspLeuGlyLeuAlaValMetHisSerGlnGlySerAspTyrLeuAspIleGlyAsnAsnProArgValGlyThrLysArgTyrMetAlaProGluValLeuAspGluGlnIleArgThrAspCysPheGluSerTyrLysTrpThrAspIleTrpAlaPheGlyLeuValLeuTrpGluIleAlaArgArgThrIleValAsnGlyIleValGluAspTyrArgProProPheTyrAspValValProAsnAspProSerPheGluAspMetLysLysValValCysValAspGlnGlnThrProThrIleProAsnArgLeuAlaAlaAspProValLeuSerGlyLeuAlaGlnMetMetArgGluCysTrpTyrProAsnProSerAlaArgLeuThrAlaLeuArgIleLysLysThrLeuGlnLysIleSerAsnSerProGluLysProLysValIleGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS066074" }, { "coordinates": [ { "allele": "T", "end": 454, "endIntronDirection": "+", "endIntronOffset": 325, "referenceAllele": "C", "start": 454, "startIntronDirection": "+", "startIntronOffset": 324 } ], "gene": "http://reg.genome.network/gene/GN000175", "geneNCBI_id": 94, "geneSymbol": "ACVRL1", "hgvs": [ "XM_011539008.1:c.355+325C>T" ], "proteinEffect": { "hgvs": "XP_011537310.1:n.355+325C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS105961" }, { "coordinates": [ { "allele": "T", "end": 189, "referenceAllele": "C", "start": 188 } ], "gene": "http://reg.genome.network/gene/GN000175", "geneNCBI_id": 94, "geneSymbol": "ACVRL1", "hgvs": [ "XM_024449279.1:c.-260C>T" ], "proteinEffect": { "hgvs": "XP_024305047.1:n.-260C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS582837" }, { "@id": "http://reg.genome.network/allele/PA321607", "coordinates": [ { "allele": "T", "end": 627, "referenceAllele": "C", "start": 626 } ], "gene": "http://reg.genome.network/gene/GN000175", "geneNCBI_id": 94, "geneSymbol": "ACVRL1", "hgvs": [ "NM_000020.3:c.430C>T" ], "proteinEffect": { "hgvs": "NP_000011.2:p.Arg144Ter", "hgvsWellDefined": "NP_000011.2:p.Arg146_Gln503delinsGlnGluLysGlnArgGlyLeuHisSerGluLeuGlyGluSerSerLeuIleLeuLysAlaSerGluGlnGlyAspSerMetLeuGlyAspLeuLeuAspSerAspCysThrThrGlySerGlySerGlyLeuProPheLeuValGlnArgThrValAlaArgGlnValAlaLeuValGluCysValGlyLysGlyArgTyrGlyGluValTrpArgGlyLeuTrpHisGlyGluSerValAlaValLysIlePheSerSerArgAspGluGlnSerTrpPheArgGluThrGluIleTyrAsnThrValLeuLeuArgHisAspAsnIleLeuGlyPheIleAlaSerAspMetThrSerArgAsnSerSerThrGlnLeuTrpLeuIleThrHisTyrHisGluHisGlySerLeuTyrAspPheLeuGlnArgGlnThrLeuGluProHisLeuAlaLeuArgLeuAlaValSerAlaAlaCysGlyLeuAlaHisLeuHisValGluIlePheGlyThrGlnGlyLysProAlaIleAlaHisArgAspPheLysSerArgAsnValLeuValLysSerAsnLeuGlnCysCysIleAlaAspLeuGlyLeuAlaValMetHisSerGlnGlySerAspTyrLeuAspIleGlyAsnAsnProArgValGlyThrLysArgTyrMetAlaProGluValLeuAspGluGlnIleArgThrAspCysPheGluSerTyrLysTrpThrAspIleTrpAlaPheGlyLeuValLeuTrpGluIleAlaArgArgThrIleValAsnGlyIleValGluAspTyrArgProProPheTyrAspValValProAsnAspProSerPheGluAspMetLysLysValValCysValAspGlnGlnThrProThrIleProAsnArgLeuAlaAlaAspProValLeuSerGlyLeuAlaGlnMetMetArgGluCysTrpTyrProAsnProSerAlaArgLeuThrAlaLeuArgIleLysLysThrLeuGlnLysIleSerAsnSerProGluLysProLysValIleGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674671", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000388922.9:c.430C>T" }, "RefSeq": { "hgvs": "NM_000020.3:c.430C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000373574.4:p.Arg144Ter" }, "RefSeq": { "hgvs": "NP_000011.2:p.Arg144Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA915963385", "coordinates": [ { "allele": "T", "end": 522, "referenceAllele": "C", "start": 521 } ], "gene": "http://reg.genome.network/gene/GN000175", "geneNCBI_id": 94, "geneSymbol": "ACVRL1", "hgvs": [ "NM_001077401.2:c.430C>T" ], "proteinEffect": { "hgvs": "NP_001070869.1:p.Arg144Ter", "hgvsWellDefined": "NP_001070869.1:p.Arg146_Gln503delinsGlnGluLysGlnArgGlyLeuHisSerGluLeuGlyGluSerSerLeuIleLeuLysAlaSerGluGlnGlyAspSerMetLeuGlyAspLeuLeuAspSerAspCysThrThrGlySerGlySerGlyLeuProPheLeuValGlnArgThrValAlaArgGlnValAlaLeuValGluCysValGlyLysGlyArgTyrGlyGluValTrpArgGlyLeuTrpHisGlyGluSerValAlaValLysIlePheSerSerArgAspGluGlnSerTrpPheArgGluThrGluIleTyrAsnThrValLeuLeuArgHisAspAsnIleLeuGlyPheIleAlaSerAspMetThrSerArgAsnSerSerThrGlnLeuTrpLeuIleThrHisTyrHisGluHisGlySerLeuTyrAspPheLeuGlnArgGlnThrLeuGluProHisLeuAlaLeuArgLeuAlaValSerAlaAlaCysGlyLeuAlaHisLeuHisValGluIlePheGlyThrGlnGlyLysProAlaIleAlaHisArgAspPheLysSerArgAsnValLeuValLysSerAsnLeuGlnCysCysIleAlaAspLeuGlyLeuAlaValMetHisSerGlnGlySerAspTyrLeuAspIleGlyAsnAsnProArgValGlyThrLysArgTyrMetAlaProGluValLeuAspGluGlnIleArgThrAspCysPheGluSerTyrLysTrpThrAspIleTrpAlaPheGlyLeuValLeuTrpGluIleAlaArgArgThrIleValAsnGlyIleValGluAspTyrArgProProPheTyrAspValValProAsnAspProSerPheGluAspMetLysLysValValCysValAspGlnGlnThrProThrIleProAsnArgLeuAlaAlaAspProValLeuSerGlyLeuAlaGlnMetMetArgGluCysTrpTyrProAsnProSerAlaArgLeuThrAlaLeuArgIleLysLysThrLeuGlnLysIleSerAsnSerProGluLysProLysValIleGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676153" } ], "type": "nucleotide" }