HNRNPA1 heterogeneous nuclear ribonucleoprotein A1

Information
Symbol
HNRNPA1
Type
protein-coding
Description
heterogeneous nuclear ribonucleoprotein A1
Entrez Gene ID
3178
Genome
hg19
Position
chr12:54,674,510-54,680,871
Genome
hg38
Position
chr12:54,280,726-54,287,087
MIM
164017 OMIM
HGNC
HGNC:5031 HGNC
Ensembl
ENSG00000135486 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 1 8
Likely pathogenic 0 32
Benign 0 14
Likely benign 0 54
Uncertain significance 0 60
Ranking
ClinVar
0
0
6
108
52
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 :
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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 ALS19
SYNONYM ALS20
SYNONYM HNRPA1
SYNONYM HNRPA1L3
SYNONYM IBMPFD3
SYNONYM MPD3
SYNONYM UP 1
SYNONYM hnRNP A1
SYNONYM hnRNP-A1
MIM 164017 OMIM
HGNC HGNC:5031 HGNC
Ensembl ENSG00000135486 Ensembl
AllianceGenome HGNC:5031
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000678077.1 hg38 chr12 54,280,872 54,285,239 4,368
ENST00000547276.5 hg38 chr12 54,280,780 54,285,251 4,472
ENST00000340913.11 hg38 chr12 54,280,726 54,287,087 6,362
ENST00000330752.12 hg38 chr12 54,280,775 54,284,881 4,107
ENST00000550482.2 hg38 chr12 54,280,704 54,285,842 5,139
ENST00000677210.1 hg38 chr12 54,280,663 54,285,842 5,180
ENST00000676794.1 hg38 chr12 54,280,775 54,284,317 3,543
ENST00000677385.1 hg38 chr12 54,280,663 54,285,843 5,181
ENST00000546500.5 hg38 chr12 54,280,193 54,287,087 6,895
ENST00000677249.1 hg38 chr12 54,280,691 54,285,745 5,055
ENST00000677375.1 hg38 chr12 54,280,663 54,285,229 4,567
ENST00000546500.5 hg19 chr12 54,673,977 54,680,871 6,895
ENST00000547276.5 hg19 chr12 54,674,564 54,679,035 4,472
ENST00000677375.1 hg19 chr12 54,674,447 54,679,013 4,567
ENST00000677210.1 hg19 chr12 54,674,447 54,679,626 5,180
ENST00000677385.1 hg19 chr12 54,674,447 54,679,627 5,181
ENST00000330752.12 hg19 chr12 54,674,559 54,678,665 4,107
ENST00000676794.1 hg19 chr12 54,674,559 54,678,101 3,543
ENST00000677249.1 hg19 chr12 54,674,475 54,679,529 5,055
ENST00000340913.11 hg19 chr12 54,674,510 54,680,871 6,362
ENST00000550482.2 hg19 chr12 54,674,488 54,679,626 5,139
ENST00000678077.1 hg19 chr12 54,674,656 54,679,023 4,368
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