Canonical Allele Identifier: CA16603575
Gene: ACTA1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.229432126C>G
GRCh37 chr1:g.229567873C>G
Revel Score:
ENST00000366684 (MANE Select) 0.772
ENST00000308794 0.772
ENST00000366683 0.772
ENST00000366682 0.772
ClinVar RCV:
RCV000440063
RCV000555238
ClinVar Variation:
381640
dbSNP:
1057521118
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432126C>G , CM000663.2:g.229432126C>G GRCh38
NC_000001.10:g.229567873C>G , CM000663.1:g.229567873C>G GRCh37
NC_000001.9:g.227634496C>G NCBI36
NG_006672.1:g.6971G>C , LRG_429:g.6971G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.676G>C ENSP00000355644.4:p.Glu226Gln
ENST00000684723.1:c.541G>C ENSP00000508084.1:p.Glu181Gln
ENST00000366683.3:c.480-264G>C ENSP00000355644.3:n.480-264G>C
ENST00000366684.7:c.676G>C MANE Select ENSP00000355645.3:p.Glu226Gln
NM_001100.3:c.676G>C , LRG_429t1:c.676G>C NP_001091.1:p.Glu226Gln
NM_001100.4:c.676G>C MANE Select NP_001091.1:p.Glu226Gln
Search 100 bp 5'
Search 100 bp 3'