NPL N-acetylneuraminate pyruvate lyase

Information
Symbol
NPL
Type
protein-coding
Description
N-acetylneuraminate pyruvate lyase
Entrez Gene ID
80896
Genome
hg19
Position
chr1:182,758,908-182,799,519
Genome
hg38
Position
chr1:182,789,773-182,830,384
MIM
611412 OMIM
HGNC
HGNC:16781 HGNC
Ensembl
ENSG00000135838 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 6
Likely benign 0 6
Uncertain significance 0 26
Ranking
ClinVar
0
0
2
36
0
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 C112
SYNONYM C1orf13
SYNONYM NAL
SYNONYM NPL1
MIM 611412 OMIM
HGNC HGNC:16781 HGNC
Ensembl ENSG00000135838 Ensembl
AllianceGenome HGNC:16781
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000614468.1 hg38 chr1 182,794,350 182,830,384 36,035
ENST00000367552.6 hg38 chr1 182,794,350 182,829,679 35,330
ENST00000367554.7 hg38 chr1 182,789,449 182,830,384 40,936
ENST00000367553.6 hg38 chr1 182,789,773 182,830,384 40,612
ENST00000367555.5 hg38 chr1 182,789,769 182,830,384 40,616
ENST00000258317.6 hg38 chr1 182,794,350 182,830,384 36,035
ENST00000367554.7 hg19 chr1 182,758,584 182,799,519 40,936
ENST00000367555.5 hg19 chr1 182,758,904 182,799,519 40,616
ENST00000367553.6 hg19 chr1 182,758,908 182,799,519 40,612
ENST00000367552.6 hg19 chr1 182,763,485 182,798,814 35,330
ENST00000258317.6 hg19 chr1 182,763,485 182,799,519 36,035
ENST00000614468.1 hg19 chr1 182,763,485 182,799,519 36,035
Genome browser