Canonical Allele Identifier: CA1442920

Gene: ACTA1

Linked Data

• dbSNP Id: rs542925509
• ExAC: 1:229568700 C / G
• gnomAD v2: 1-229568700-C-G
• gnomAD v3: 1-229432953-C-G
• gnomAD v4: 1-229432953-C-G
• MyVariant Identifiers: chr1:g.229568700C>G (hg19) ; chr1:g.229432953C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.229432953C>G , CM000663.2:g.229432953C>G	GRCh38
NC_000001.10:g.229568700C>G , CM000663.1:g.229568700C>G	GRCh37
NC_000001.9:g.227635323C>G	NCBI36
NG_006672.1:g.6144G>C , LRG_429:g.6144G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366683.4:c.129+34G>C	ENSP00000355644.4:n.129+34G>C
ENST00000684723.1:c.-6-73G>C	ENSP00000508084.1:n.-6-73G>C
ENST00000366683.3:c.129+34G>C	ENSP00000355644.3:n.129+34G>C
ENST00000366684.7:c.129+34G>C MANE Select	ENSP00000355645.3:n.129+34G>C
NM_001100.3:c.129+34G>C , LRG_429t1:c.129+34G>C	NP_001091.1:n.129+34G>C
NM_001100.4:c.129+34G>C MANE Select	NP_001091.1:n.129+34G>C