Canonical Allele Identifier: CA345145766
Gene: ACTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 464136
ClinVar RCV Id: RCV000536409
dbSNP Id: rs1553255349
MyVariant Identifiers: chr1:g.229567560C>A (hg19) chr1:g.229431813C>A (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.898G>T ENSP00000355644.4:p.Val300Phe
ENST00000684723.1:c.763G>T ENSP00000508084.1:p.Val255Phe
ENST00000366683.3:c.529G>T ENSP00000355644.3:p.Val177Phe
ENST00000366684.7:c.898G>T MANE Select ENSP00000355645.3:p.Val300Phe
NM_001100.3:c.898G>T , LRG_429t1:c.898G>T NP_001091.1:p.Val300Phe
NM_001100.4:c.898G>T MANE Select NP_001091.1:p.Val300Phe
Search 100 bp 5'
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