Canonical Allele Identifier: CA345149651
Gene: ACTA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.229568396T>G (hg19) chr1:g.229432649T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432649T>G , CM000663.2:g.229432649T>G GRCh38
NC_000001.10:g.229568396T>G , CM000663.1:g.229568396T>G GRCh37
NC_000001.9:g.227635019T>G NCBI36
NG_006672.1:g.6448A>C , LRG_429:g.6448A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.361A>C ENSP00000355644.4:p.Met121Leu
ENST00000684723.1:c.226A>C ENSP00000508084.1:p.Met76Leu
ENST00000366683.3:c.361A>C ENSP00000355644.3:p.Met121Leu
ENST00000366684.7:c.361A>C MANE Select ENSP00000355645.3:p.Met121Leu
NM_001100.3:c.361A>C , LRG_429t1:c.361A>C NP_001091.1:p.Met121Leu
NM_001100.4:c.361A>C MANE Select NP_001091.1:p.Met121Leu
Search 100 bp 5'
Search 100 bp 3'