SERPINA1 serpin family A member 1

Information
Symbol
SERPINA1
Type
protein-coding
Description
serpin family A member 1
Entrez Gene ID
5265
Genome
hg19
Position
chr14:94,843,084-94,856,974
Genome
hg38
Position
chr14:94,376,747-94,390,637
MIM
107400 OMIM
HGNC
HGNC:8941 HGNC
Ensembl
ENSG00000197249 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 82
Likely pathogenic 0 82
Benign 0 64
Likely benign 0 412
Benign; other 0 2
Conflicting classifications of pathogenicity 0 92
Likely pathogenic; other 0 2
low penetrance; other 0 2
no classification for the single variant 0 6
not provided 0 4
other 0 2
Pathogenic; other 0 6
Pathogenic; risk factor 0 2
Uncertain significance 0 210
Ranking
ClinVar
0
0
124
646
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
[No Data.]
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 A1A
SYNONYM A1AT
SYNONYM AAT
SYNONYM PI
SYNONYM PI1
SYNONYM PRO2275
SYNONYM alpha1AT
SYNONYM nNIF
MIM 107400 OMIM
HGNC HGNC:8941 HGNC
Ensembl ENSG00000197249 Ensembl
AllianceGenome HGNC:8941
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000437397.5 hg38 chr14 94,376,747 94,390,692 13,946
ENST00000448921.5 hg38 chr14 94,376,747 94,390,692 13,946
ENST00000402629.1 hg38 chr14 94,379,113 94,388,589 9,477
ENST00000355814.8 hg38 chr14 94,376,747 94,390,692 13,946
ENST00000440909.5 hg38 chr14 94,376,747 94,390,637 13,891
ENST00000404814.8 hg38 chr14 94,378,389 94,390,662 12,274
ENST00000393088.8 hg38 chr14 94,378,376 94,390,693 12,318
ENST00000393087.9 hg38 chr14 94,376,747 94,388,602 11,856
ENST00000636712.1 hg38 chr14 94,378,373 94,388,847 10,475
ENST00000449399.7 hg38 chr14 94,378,449 94,390,650 12,202
ENST00000393087.9 hg19 chr14 94,843,084 94,854,939 11,856
ENST00000440909.5 hg19 chr14 94,843,084 94,856,974 13,891
ENST00000393088.8 hg19 chr14 94,844,713 94,857,030 12,318
ENST00000402629.1 hg19 chr14 94,845,450 94,854,926 9,477
ENST00000404814.8 hg19 chr14 94,844,726 94,856,999 12,274
ENST00000448921.5 hg19 chr14 94,843,084 94,857,029 13,946
ENST00000437397.5 hg19 chr14 94,843,084 94,857,029 13,946
ENST00000355814.8 hg19 chr14 94,843,084 94,857,029 13,946
ENST00000636712.1 hg19 chr14 94,844,710 94,855,184 10,475
ENST00000449399.7 hg19 chr14 94,844,786 94,856,987 12,202
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