Canonical Allele Identifier: CA1442746
Gene: ACTA1 HGNC NCBI
ClinGen Evidence Repository:
Classification Pathogenic
Condition alpha-actinopathy
VCEP Congenital Myopathies VCEP
MyVariant.info:
GRCh38 chr1:g.229431720C>A
GRCh37 chr1:g.229567467C>A
gnomAD v2:
1:229567467 C / A
gnomAD v3:
1:229431720 C / A
gnomAD v4:
chr1-229431720-C-A
Joint Max Group AF 0.00001883 (NFE)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.00001746 (NFE)
ClinVar RCV:
RCV000535490
RCV002060316
ClinVar Variation:
464139
dbSNP:
372686280
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431720C>A , CM000663.2:g.229431720C>A GRCh38
NC_000001.10:g.229567467C>A , CM000663.1:g.229567467C>A GRCh37
NC_000001.9:g.227634090C>A NCBI36
NG_006672.1:g.7377G>T , LRG_429:g.7377G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.990+1G>T ENSP00000355644.4:n.990+1G>T
ENST00000684723.1:c.855+1G>T ENSP00000508084.1:n.855+1G>T
ENST00000366683.3:c.621+1G>T ENSP00000355644.3:n.621+1G>T
ENST00000366684.7:c.990+1G>T MANE Select ENSP00000355645.3:n.990+1G>T
NM_001100.3:c.990+1G>T , LRG_429t1:c.990+1G>T NP_001091.1:n.990+1G>T
NM_001100.4:c.990+1G>T MANE Select NP_001091.1:n.990+1G>T
Search 100 bp 5'
Search 100 bp 3'