Canonical Allele Identifier: CA345147061

Gene: ACTA1

Linked Data

• ClinVar Variation Id: 2635623
• ClinVar RCV Id: RCV003419069
• MyVariant Identifiers: chr1:g.229567863A>G (hg19) ; chr1:g.229432116A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.229432116A>G , CM000663.2:g.229432116A>G	GRCh38
NC_000001.10:g.229567863A>G , CM000663.1:g.229567863A>G	GRCh37
NC_000001.9:g.227634486A>G	NCBI36
NG_006672.1:g.6981T>C , LRG_429:g.6981T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366683.4:c.686T>C	ENSP00000355644.4:p.Met229Thr
ENST00000684723.1:c.551T>C	ENSP00000508084.1:p.Met184Thr
ENST00000366683.3:c.480-254T>C	ENSP00000355644.3:n.480-254T>C
ENST00000366684.7:c.686T>C MANE Select	ENSP00000355645.3:p.Met229Thr
NM_001100.3:c.686T>C , LRG_429t1:c.686T>C	NP_001091.1:p.Met229Thr
NM_001100.4:c.686T>C MANE Select	NP_001091.1:p.Met229Thr