Canonical Allele Identifier: CA221485
Gene: ACTA1 HGNC NCBI
ClinGen Evidence Repository:
Classification Likely Pathogenic
Condition alpha-actinopathy
VCEP Congenital Myopathies VCEP
MyVariant.info:
GRCh38 chr1:g.229432568C>T
GRCh37 chr1:g.229568315C>T
Revel Score:
ENST00000366684 (MANE Select) 0.935
ENST00000366682 0.935
ENST00000342787 0.935
ClinVar RCV:
RCV000578272
RCV000790672
ClinVar Variation:
93549
dbSNP:
398123563
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432568C>T , CM000663.2:g.229432568C>T GRCh38
NC_000001.10:g.229568315C>T , CM000663.1:g.229568315C>T GRCh37
NC_000001.9:g.227634938C>T NCBI36
NG_006672.1:g.6529G>A , LRG_429:g.6529G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.442G>A ENSP00000355644.4:p.Gly148Ser
ENST00000684723.1:c.307G>A ENSP00000508084.1:p.Gly103Ser
ENST00000366683.3:c.442G>A ENSP00000355644.3:p.Gly148Ser
ENST00000366684.7:c.442G>A MANE Select ENSP00000355645.3:p.Gly148Ser
NM_001100.3:c.442G>A , LRG_429t1:c.442G>A NP_001091.1:p.Gly148Ser
NM_001100.4:c.442G>A MANE Select NP_001091.1:p.Gly148Ser
Search 100 bp 5'
Search 100 bp 3'