Canonical Allele Identifier: CA345151305
Gene: ACTA1 HGNC NCBI
ClinGen Classification:
Classification Pathogenic
Condition alpha-actinopathy
VCEP Congenital Myopathies VCEP
ClinVar RCV:
RCV000558312
ClinVar Variation:
464114
dbSNP:
1553255521
MyVariant.info:
GRCh38 chr1:g.229433007C>A
GRCh37 chr1:g.229568754C>A
Revel Score:
ENST00000366684 (MANE Select) 0.881
ENST00000308794 0.881
ENST00000366683 0.881
ENST00000366682 0.881
ENST00000342787 0.881
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229433007C>A , CM000663.2:g.229433007C>A GRCh38
NC_000001.10:g.229568754C>A , CM000663.1:g.229568754C>A GRCh37
NC_000001.9:g.227635377C>A NCBI36
NG_006672.1:g.6090G>T , LRG_429:g.6090G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.109G>T ENSP00000355644.4:p.Val37Leu
ENST00000684723.1:c.-6-127G>T ENSP00000508084.1:n.-6-127G>T
ENST00000366683.3:c.109G>T ENSP00000355644.3:p.Val37Leu
ENST00000366684.7:c.109G>T MANE Select ENSP00000355645.3:p.Val37Leu
NM_001100.3:c.109G>T , LRG_429t1:c.109G>T NP_001091.1:p.Val37Leu
NM_001100.4:c.109G>T MANE Select NP_001091.1:p.Val37Leu
Search 100 bp 5'
Search 100 bp 3'