The ACTN1 gene homepage

General information
Gene symbol ACTN1
Gene name actinin, alpha 1
Chromosome 14
Chromosomal band q24.1
Imprinted Unknown
Genomic reference NG_029480.1
Transcript reference NM_001102.3
Associated with diseases BDPLT15
Citation reference(s) -
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 26
Unique public DNA variants reported 25
Individuals with public variants 3
Hidden variants -
Date created September 13, 2012
Date last updated April 16, 2023
Version ACTN1:230416

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
HGNC 163
Entrez Gene 87
PubMed articles ACTN1
OMIM - Gene 102575
OMIM - Diseases BDPLT15 (bleeding disorder, platelet type 15 (BDPLT-15))
GeneCards ACTN1
GeneTests ACTN1
Orphanet ACTN1

Active transcripts




NCBI ID     

NCBI Protein ID     

00001076 14 transcript variant 2 NM_001102.3 NP_001093.1 26

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