Canonical Allele Identifier: CA38814782
Gene: ACTA1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.229431626T>C
GRCh37 chr1:g.229567373T>C
Revel Score:
ENST00000366684 (MANE Select) 0.808
ENST00000308794 0.808
ENST00000366683 0.808
ENST00000366682 0.808
ENST00000342787 0.808
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431626T>C , CM000663.2:g.229431626T>C GRCh38
NC_000001.10:g.229567373T>C , CM000663.1:g.229567373T>C GRCh37
NC_000001.9:g.227633996T>C NCBI36
NG_006672.1:g.7471A>G , LRG_429:g.7471A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.991-62A>G ENSP00000355644.4:n.991-62A>G
ENST00000684723.1:c.872A>G ENSP00000508084.1:p.Glu291Gly
ENST00000366683.3:c.638A>G ENSP00000355644.3:p.Glu213Gly
ENST00000366684.7:c.1007A>G MANE Select ENSP00000355645.3:p.Glu336Gly
NM_001100.3:c.1007A>G , LRG_429t1:c.1007A>G NP_001091.1:p.Glu336Gly
NM_001100.4:c.1007A>G MANE Select NP_001091.1:p.Glu336Gly
Search 100 bp 5'
Search 100 bp 3'