The CPT1A gene homepage

General information
Gene symbol CPT1A
Gene name carnitine palmitoyltransferase 1A (liver)
Chromosome 11
Chromosomal band q13.2
Imprinted Unknown
Genomic reference NG_011801.1
Transcript reference NM_001031847.2, NM_001876.3, XM_005273762.1, XM_005273763.1
Associated with diseases carnitine palmitoyltransferase I deficiency
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 116
Unique public DNA variants reported 15
Individuals with public variants 35
Hidden variants 76
Date created November 30, -0001
Date last updated September 28, 2016
Version CPT1A: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:2328
Entrez Gene 1374
PubMed articles CPT1A
OMIM - Gene 600528
OMIM - Diseases carnitine palmitoyltransferase I deficiency


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00010956 11 transcript variant 2 NM_001031847.2 NP_001027017.1 116
00010957 11 transcript variant 1 NM_001876.3 NP_001867.2 116
00034464 11 transcript variant X2 XM_005273763.1 XP_005273820.1 -
00034465 11 transcript variant X1 XM_005273762.1 XP_005273819.1 -