Canonical Allele Identifier: CA345145771
Gene: ACTA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.229567560C>T (hg19) chr1:g.229431813C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431813C>T , CM000663.2:g.229431813C>T GRCh38
NC_000001.10:g.229567560C>T , CM000663.1:g.229567560C>T GRCh37
NC_000001.9:g.227634183C>T NCBI36
NG_006672.1:g.7284G>A , LRG_429:g.7284G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.898G>A ENSP00000355644.4:p.Val300Ile
ENST00000684723.1:c.763G>A ENSP00000508084.1:p.Val255Ile
ENST00000366683.3:c.529G>A ENSP00000355644.3:p.Val177Ile
ENST00000366684.7:c.898G>A MANE Select ENSP00000355645.3:p.Val300Ile
NM_001100.3:c.898G>A , LRG_429t1:c.898G>A NP_001091.1:p.Val300Ile
NM_001100.4:c.898G>A MANE Select NP_001091.1:p.Val300Ile
Search 100 bp 5'
Search 100 bp 3'