Canonical Allele Identifier: CA345151077
Gene: ACTA1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.229432877C>T
GRCh37 chr1:g.229568624C>T
Revel Score:
ENST00000366684 (MANE Select) 0.324
ENST00000308794 0.324
ENST00000366683 0.324
ENST00000366682 0.324
ENST00000342787 0.324
gnomAD v2:
1:229568624 C / T
gnomAD v4:
chr1-229432877-C-T
Joint Max Group AF 0.00000124 (NFE)
Exomes Max Group AF 0.00000132 (NFE)
ClinVar RCV:
RCV001068492
ClinVar Variation:
861879
dbSNP:
398123562
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432877C>T , CM000663.2:g.229432877C>T GRCh38
NC_000001.10:g.229568624C>T , CM000663.1:g.229568624C>T GRCh37
NC_000001.9:g.227635247C>T NCBI36
NG_006672.1:g.6220G>A , LRG_429:g.6220G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.133G>A ENSP00000355644.4:p.Val45Ile
ENST00000684723.1:c.-3G>A ENSP00000508084.1:n.-3G>A
ENST00000366683.3:c.133G>A ENSP00000355644.3:p.Val45Ile
ENST00000366684.7:c.133G>A MANE Select ENSP00000355645.3:p.Val45Ile
NM_001100.3:c.133G>A , LRG_429t1:c.133G>A NP_001091.1:p.Val45Ile
NM_001100.4:c.133G>A MANE Select NP_001091.1:p.Val45Ile
Search 100 bp 5'
Search 100 bp 3'