The ACY1 gene homepage

General information
Gene symbol ACY1
Gene name aminoacylase 1
Chromosome 3
Chromosomal band p21.2
Imprinted Unknown
Genomic reference NG_012036.1
Transcript reference NM_000666.2, NM_001198895.1, NM_001198896.1, NM_001198897.1, NM_001198898.1
Associated with diseases ACY1D
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 37
Unique public DNA variants reported 14
Individuals with public variants 29
Hidden variants -
Date created November 30, -0001
Date last updated September 28, 2016
Version ACY1:160928

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC HGNC:177
Entrez Gene 95
PubMed articles ACY1
OMIM - Gene 104620
OMIM - Diseases ACY1D (aminoacylase 1 deficiency (ACY1D))


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00031272 3 transcript variant 2 NM_001198895.1 NP_001185824.1 37
00049482 3 transcript variant 1 NM_000666.2 NP_000657.1 37
00049481 3 transcript variant 5 NM_001198898.1 NP_001185827.1 36
00031271 3 transcript variant 3 NM_001198896.1 NP_001185825.1 30
00049483 3 transcript variant 4 NM_001198897.1 NP_001185826.1 27