ACVRL1 activin A receptor like type 1

Information
Symbol
ACVRL1
Type
protein-coding
Description
activin A receptor like type 1
Entrez Gene ID
94
Genome
hg19
Position
chr12:52,300,692-52,317,145
Genome
hg38
Position
chr12:51,906,908-51,923,361
MIM
601284 OMIM
HGNC
HGNC:175 HGNC
Ensembl
ENSG00000139567 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 42 678
Likely pathogenic 4 336
Benign 4 172
Likely benign 0 380
Conflicting classifications of pathogenicity 0 98
not provided 51 2
Uncertain significance 0 400
Ranking
ClinVar
0
32
526
1,220
40
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM ACVRLK1
SYNONYM ALK-1
SYNONYM ALK1
SYNONYM HHT
SYNONYM HHT2
SYNONYM ORW2
SYNONYM SKR3
SYNONYM TSR-I
MIM 601284 OMIM
HGNC HGNC:175 HGNC
Ensembl ENSG00000139567 Ensembl
AllianceGenome HGNC:175
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000388922.9 hg38 chr12 51,907,504 51,923,361 15,858
ENST00000550683.5 hg38 chr12 51,912,332 51,923,359 11,028
ENST00000547400.6 hg38 chr12 51,912,329 51,920,893 8,565
ENST00000552678.2 hg38 chr12 51,907,621 51,919,944 12,324
ENST00000419526.6 hg38 chr12 51,912,371 51,921,197 8,827
ENST00000713619.1 hg38 chr12 51,907,497 51,923,360 15,864
ENST00000551576.6 hg38 chr12 51,906,908 51,923,361 16,454
ENST00000551576.6 hg19 chr12 52,300,692 52,317,145 16,454
ENST00000713619.1 hg19 chr12 52,301,281 52,317,144 15,864
ENST00000388922.9 hg19 chr12 52,301,288 52,317,145 15,858
ENST00000552678.2 hg19 chr12 52,301,405 52,313,728 12,324
ENST00000547400.6 hg19 chr12 52,306,113 52,314,677 8,565
ENST00000550683.5 hg19 chr12 52,306,116 52,317,143 11,028
ENST00000419526.6 hg19 chr12 52,306,155 52,314,981 8,827
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