RGD:12906109 Rat Genome Database

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Variant: RGD:12906109 -  Homo sapiens

RGD ID: 12906109
RS ID: rs121909289
ClinVar ID: CV414398
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACVRL1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 52,309,967
GRCh38 12 51,916,183
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_543t1:c.1196G>T
LRG_543:g.13766G>T
NG_009549.1:g.13766G>T
NC_000012.12:g.51916183G>T
More...
missense variant pathogenic PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ACVRL1
Accession:NM_000020
Location:EXON
Amino Acid Prediction: W to L (nonsynonymous)
Amino Acid Position: 399
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTLGSPRKGLLMLLMALVTQGDPVKPSRGPLVTCTCESPHCKGPTCRGAWCTVVLVREEGRHPQEHRGCGNLHRELCRGR
PTEFVNHYCCDSHLCNHNVSLVLEATQPPSEQPGTDGQLALILGPVLALLALVALGVLGLWHVRRRQEKQRGLHSELGES
SLILKASEQGDSMLGDLLDSDCTTGSGSGLPFLVQRTVARQVALVECVGKGRYGEVWRGLWHGESVAVKIFSSRDEQSWF
RETEIYNTVLLRHDNILGFIASDMTSRNSSTQLWLITHYHEHGSLYDFLQRQTLEPHLALRLAVSAACGLAHLHVEIFGT
QGKPAIAHRDFKSRNVLVKSNLQCCIADLGLAVMHSQGSDYLDIGNNPRVGTKRYMAPEVLDEQIRTDCFESYKWTDILA
FGLVLWEIARRTIVNGIVEDYRPPFYDVVPNDPSFEDMKKVVCVDQQTPTIPNRLAADPVLSGLAQMMRECWYPNPSARL
TALRIKKTLQKISNSPEKPKVIQ*

Gene Symbol:ACVRL1
Accession:NM_001077401
Location:EXON
Amino Acid Prediction: W to L (nonsynonymous)
Amino Acid Position: 399
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTLGSPRKGLLMLLMALVTQGDPVKPSRGPLVTCTCESPHCKGPTCRGAWCTVVLVREEGRHPQEHRGCGNLHRELCRGR
PTEFVNHYCCDSHLCNHNVSLVLEATQPPSEQPGTDGQLALILGPVLALLALVALGVLGLWHVRRRQEKQRGLHSELGES
SLILKASEQGDSMLGDLLDSDCTTGSGSGLPFLVQRTVARQVALVECVGKGRYGEVWRGLWHGESVAVKIFSSRDEQSWF
RETEIYNTVLLRHDNILGFIASDMTSRNSSTQLWLITHYHEHGSLYDFLQRQTLEPHLALRLAVSAACGLAHLHVEIFGT
QGKPAIAHRDFKSRNVLVKSNLQCCIADLGLAVMHSQGSDYLDIGNNPRVGTKRYMAPEVLDEQIRTDCFESYKWTDILA
FGLVLWEIARRTIVNGIVEDYRPPFYDVVPNDPSFEDMKKVVCVDQQTPTIPNRLAADPVLSGLAQMMRECWYPNPSARL
TALRIKKTLQKISNSPEKPKVIQ*

Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: W to L (nonsynonymous)
Amino Acid Position: 399
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTLGSPRKGLLMLLMALVTQGDPVKPSRGPLVTCTCESPHCKGPTCRGAWCTVVLVREEGRHPQEHRGCGNLHRELCRGR
PTEFVNHYCCDSHLCNHNVSLVLEATQPPSEQPGTDGQLALILGPVLALLALVALGVLGLWHVRRRQEKQRGLHSELGES
SLILKASEQGDSMLGDLLDSDCTTGSGSGLPFLVQRTVARQVALVECVGKGRYGEVWRGLWHGESVAVKIFSSRDEQSWF
RETEIYNTVLLRHDNILGFIASDMTSRNSSTQLWLITHYHEHGSLYDFLQRQTLEPHLALRLAVSAACGLAHLHVEIFGT
QGKPAIAHRDFKSRNVLVKSNLQCCIADLGLAVMHSQGSDYLDIGNNPRVGTKRYMAPEVLDEQIRTDCFESYKWTDILA
FGLVLWEIARRTIVNGIVEDYRPPFYDVVPNDPSFEDMKKVVCVDQQTPTIPNRLAADPVLSGLAQMMRECWYPNPSARL
TALRIKKTLQKISNSPEKPKVIQ*

Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: W to L (nonsynonymous)
Amino Acid Position: 309
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALTPPLLLLSAGTMTLGSPRKGLLMLLMALVTQGDPVKPSRGPLVTCTCESPHCKGPTCRGAWCTVVLVREEGRHPQEH
RGCGNLHRELCRGRPTEFVNHYCCDSHLCNHNVSLVLEGKGRYGEVWRGLWHGESVAVKIFSSRDEQSWFRETEIYNTVL
LRHDNILGFIASDMTSRNSSTQLWLITHYHEHGSLYDFLQRQTLEPHLALRLAVSAACGLAHLHVEIFGTQGKPAIAHRD
FKSRNVLVKSNLQCCIADLGLAVMHSQGSDYLDIGNNPRVGTKRYMAPEVLDEQIRTDCFESYKWTDILAFGLVLWEIAR
RTIVNGIVEDYRPPFYDVVPNDPSFEDMKKVVCVDQQTPTIPNRLAADPVLSGLAQMMRECWYPNPSARLTALRIKKTLQ
KISNSPEKPKVIQ*

Gene Symbol:ACVRL1
Accession:XM_047429901
Location:EXON
Amino Acid Prediction: W to L (nonsynonymous)
Amino Acid Position: 399
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTLGSPRKGLLMLLMALVTQGDPVKPSRGPLVTCTCESPHCKGPTCRGAWCTVVLVREEGRHPQEHRGCGNLHRELCRGR
PTEFVNHYCCDSHLCNHNVSLVLEATQPPSEQPGTDGQLALILGPVLALLALVALGVLGLWHVRRRQEKQRGLHSELGES
SLILKASEQGDSMLGDLLDSDCTTGSGSGLPFLVQRTVARQVALVECVGKGRYGEVWRGLWHGESVAVKIFSSRDEQSWF
RETEIYNTVLLRHDNILGFIASDMTSRNSSTQLWLITHYHEHGSLYDFLQRQTLEPHLALRLAVSAACGLAHLHVEIFGT
QGKPAIAHRDFKSRNVLVKSNLQCCIADLGLAVMHSQGSDYLDIGNNPRVGTKRYMAPEVLDEQIRTDCFESYKWTDILA
FGLVLWEIARRTIVNGIVEDYRPPFYDVVPNDPSFEDMKKVVCVDQQTPTIPNRLAADPVLSGLAQMMRECWYPNPSARL
TALRIKKTLQKISNSPEKPKVIQ*

Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: W to L (nonsynonymous)
Amino Acid Position: 295
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTLGSPRKGLLMLLMALVTQGDPVKPSRGPLVTCTCESPHCKGPTCRGAWCTVVLVREEGRHPQEHRGCGNLHRELCRGR
PTEFVNHYCCDSHLCNHNVSLVLEGKGRYGEVWRGLWHGESVAVKIFSSRDEQSWFRETEIYNTVLLRHDNILGFIASDM
TSRNSSTQLWLITHYHEHGSLYDFLQRQTLEPHLALRLAVSAACGLAHLHVEIFGTQGKPAIAHRDFKSRNVLVKSNLQC
CIADLGLAVMHSQGSDYLDIGNNPRVGTKRYMAPEVLDEQIRTDCFESYKWTDILAFGLVLWEIARRTIVNGIVEDYRPP
FYDVVPNDPSFEDMKKVVCVDQQTPTIPNRLAADPVLSGLAQMMRECWYPNPSARLTALRIKKTLQKISNSPEKPKVIQ*

Gene Symbol:ACVRL1
Accession:NM_001406487
Location:EXON
Amino Acid Prediction: W to L (nonsynonymous)
Amino Acid Position: 399
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTLGSPRKGLLMLLMALVTQGDPVKPSRGPLVTCTCESPHCKGPTCRGAWCTVVLVREEGRHPQEHRGCGNLHRELCRGR
PTEFVNHYCCDSHLCNHNVSLVLEATQPPSEQPGTDGQLALILGPVLALLALVALGVLGLWHVRRRQEKQRGLHSELGES
SLILKASEQGDSMLGDLLDSDCTTGSGSGLPFLVQRTVARQVALVECVGKGRYGEVWRGLWHGESVAVKIFSSRDEQSWF
RETEIYNTVLLRHDNILGFIASDMTSRNSSTQLWLITHYHEHGSLYDFLQRQTLEPHLALRLAVSAACGLAHLHVEIFGT
QGKPAIAHRDFKSRNVLVKSNLQCCIADLGLAVMHSQGSDYLDIGNNPRVGTKRYMAPEVLDEQIRTDCFESYKWTDILA
FGLVLWEIARRTIVNGIVEDYRPPFYDVVPNDPSFEDMKKVVCVDQQTPTIPNRLAADPVLSGLAQMMRECWYPNPSARL
TALRIKKTLQKISNSPEKPKVIQ*

Gene Symbol:ACVRL1
Accession:NM_001406491
Location:EXON
Amino Acid Prediction: W to L (nonsynonymous)
Amino Acid Position: 295
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTLGSPRKGLLMLLMALVTQGDPVKPSRGPLVTCTCESPHCKGPTCRGAWCTVVLVREEGRHPQEHRGCGNLHRELCRGR
PTEFVNHYCCDSHLCNHNVSLVLEGKGRYGEVWRGLWHGESVAVKIFSSRDEQSWFRETEIYNTVLLRHDNILGFIASDM
TSRNSSTQLWLITHYHEHGSLYDFLQRQTLEPHLALRLAVSAACGLAHLHVEIFGTQGKPAIAHRDFKSRNVLVKSNLQC
CIADLGLAVMHSQGSDYLDIGNNPRVGTKRYMAPEVLDEQIRTDCFESYKWTDILAFGLVLWEIARRTIVNGIVEDYRPP
FYDVVPNDPSFEDMKKVVCVDQQTPTIPNRLAADPVLSGLAQMMRECWYPNPSARLTALRIKKTLQKISNSPEKPKVIQ*

Gene Symbol:ACVRL1
Accession:NM_001406488
Location:EXON
Amino Acid Prediction: W to L (nonsynonymous)
Amino Acid Position: 399
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTLGSPRKGLLMLLMALVTQGDPVKPSRGPLVTCTCESPHCKGPTCRGAWCTVVLVREEGRHPQEHRGCGNLHRELCRGR
PTEFVNHYCCDSHLCNHNVSLVLEATQPPSEQPGTDGQLALILGPVLALLALVALGVLGLWHVRRRQEKQRGLHSELGES
SLILKASEQGDSMLGDLLDSDCTTGSGSGLPFLVQRTVARQVALVECVGKGRYGEVWRGLWHGESVAVKIFSSRDEQSWF
RETEIYNTVLLRHDNILGFIASDMTSRNSSTQLWLITHYHEHGSLYDFLQRQTLEPHLALRLAVSAACGLAHLHVEIFGT
QGKPAIAHRDFKSRNVLVKSNLQCCIADLGLAVMHSQGSDYLDIGNNPRVGTKRYMAPEVLDEQIRTDCFESYKWTDILA
FGLVLWEIARRTIVNGIVEDYRPPFYDVVPNDPSFEDMKKVVCVDQQTPTIPNRLAADPVRPLLGLGWRGVVAHGWDFWA
QELVSEASASSHRY*

Gene Symbol:ACVRL1
Accession:NM_001406490
Location:EXON
Amino Acid Prediction: W to L (nonsynonymous)
Amino Acid Position: 295
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTLGSPRKGLLMLLMALVTQGDPVKPSRGPLVTCTCESPHCKGPTCRGAWCTVVLVREEGRHPQEHRGCGNLHRELCRGR
PTEFVNHYCCDSHLCNHNVSLVLEGKGRYGEVWRGLWHGESVAVKIFSSRDEQSWFRETEIYNTVLLRHDNILGFIASDM
TSRNSSTQLWLITHYHEHGSLYDFLQRQTLEPHLALRLAVSAACGLAHLHVEIFGTQGKPAIAHRDFKSRNVLVKSNLQC
CIADLGLAVMHSQGSDYLDIGNNPRVGTKRYMAPEVLDEQIRTDCFESYKWTDILAFGLVLWEIARRTIVNGYGWSPASW
GQGCPHFLSIYQEPAPCQTSFVLGGHQLKTEAVVSPVPWGDSRGIVEDYRPPFYDVVPNDPSFEDMKKVVCVDQQTPTIP
NRLAADPVLSGLAQMMRECWYPNPSARLTALRIKKTLQKISNSPEKPKVIQ*

Gene Symbol:ACVRL1
Accession:NM_001406492
Location:EXON
Amino Acid Prediction: W to L (nonsynonymous)
Amino Acid Position: 295
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTLGSPRKGLLMLLMALVTQGDPVKPSRGPLVTCTCESPHCKGPTCRGAWCTVVLVREEGRHPQEHRGCGNLHRELCRGR
PTEFVNHYCCDSHLCNHNVSLVLEGKGRYGEVWRGLWHGESVAVKIFSSRDEQSWFRETEIYNTVLLRHDNILGFIASDM
TSRNSSTQLWLITHYHEHGSLYDFLQRQTLEPHLALRLAVSAACGLAHLHVEIFGTQGKPAIAHRDFKSRNVLVKSNLQC
CIADLGLAVMHSQGSDYLDIGNNPRVGTKRYMAPEVLDEQIRTDCFESYKWTDILAFGLVLWEIARRTIVNGIVEDYRPP
FYDVVPNDPSFEDMKKVVCVDQQTPTIPNRLAADPVLSGLAQMMRECWYPNPSARLTALRIKKTLQKISNSPEKPKVIQ*

Gene Symbol:ACVRL1
Accession:NM_001406495
Location:EXON
Amino Acid Prediction: W to L (nonsynonymous)
Amino Acid Position: 211
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTLGSPRKGLLMLLMALVTQGKGRYGEVWRGLWHGESVAVKIFSSRDEQSWFRETEIYNTVLLRHDNILGFIASDMTSRN
SSTQLWLITHYHEHGSLYDFLQRQTLEPHLALRLAVSAACGLAHLHVEIFGTQGKPAIAHRDFKSRNVLVKSNLQCCIAD
LGLAVMHSQGSDYLDIGNNPRVGTKRYMAPEVLDEQIRTDCFESYKWTDILAFGLVLWEIARRTIVNGIVEDYRPPFYDV
VPNDPSFEDMKKVVCVDQQTPTIPNRLAADPVLSGLAQMMRECWYPNPSARLTALRIKKTLQKISNSPEKPKVIQ*

Gene Symbol:ACVRL1
Accession:NM_001406489
Location:EXON
Amino Acid Prediction: W to L (nonsynonymous)
Amino Acid Position: 399
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTLGSPRKGLLMLLMALVTQGDPVKPSRGPLVTCTCESPHCKGPTCRGAWCTVVLVREEGRHPQEHRGCGNLHRELCRGR
PTEFVNHYCCDSHLCNHNVSLVLEATQPPSEQPGTDGQLALILGPVLALLALVALGVLGLWHVRRRQEKQRGLHSELGES
SLILKASEQGDSMLGDLLDSDCTTGSGSGLPFLVQRTVARQVALVECVGKGRYGEVWRGLWHGESVAVKIFSSRDEQSWF
RETEIYNTVLLRHDNILGFIASDMTSRNSSTQLWLITHYHEHGSLYDFLQRQTLEPHLALRLAVSAACGLAHLHVEIFGT
QGKPAIAHRDFKSRNVLVKSNLQCCIADLGLAVMHSQGSDYLDIGNNPRVGTKRYMAPEVLDEQIRTDCFESYKWTDILA
FGLVLWEIARRTIVNGIVEDYRPPFYDVVPNDPSFEDMKKVVCVDQQTPTIPNRLAADPVRPLLGLGWRGVVAHGWDFWA
QELVSEASASSHRY*

Gene Symbol:ACVRL1
Accession:NM_001406493
Location:EXON
Amino Acid Prediction: W to L (nonsynonymous)
Amino Acid Position: 295
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTLGSPRKGLLMLLMALVTQGDPVKPSRGPLVTCTCESPHCKGPTCRGAWCTVVLVREEGRHPQEHRGCGNLHRELCRGR
PTEFVNHYCCDSHLCNHNVSLVLEGKGRYGEVWRGLWHGESVAVKIFSSRDEQSWFRETEIYNTVLLRHDNILGFIASDM
TSRNSSTQLWLITHYHEHGSLYDFLQRQTLEPHLALRLAVSAACGLAHLHVEIFGTQGKPAIAHRDFKSRNVLVKSNLQC
CIADLGLAVMHSQGSDYLDIGNNPRVGTKRYMAPEVLDEQIRTDCFESYKWTDILAFGLVLWEIARRTIVNGIVEDYRPP
FYDVVPNDPSFEDMKKVVCVDQQTPTIPNRLAADPVRPLLGLGWRGVVAHGWDFWAQELVSEASASSHRY*

Gene Symbol:ACVRL1
Accession:NM_001406494
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25318803   PMID:26387786  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000488470 CLINVAR
dbSNP (RS) rs121909289 CLINVAR
MedGen C1832529 CLINVAR
NCBI Gene ACVRL1 CLINVAR
OMIM 601284 CLINVAR