Canonical Allele Identifier: CA1442714
Gene: ACTA1 HGNC NCBI

Linked Data

dbSNP Id: rs768709092
ExAC: 1:229567348 G / T
gnomAD v2: 1-229567348-G-T
gnomAD v4: 1-229431601-G-T
MyVariant Identifiers: chr1:g.229567348G>T (hg19) chr1:g.229431601G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431601G>T , CM000663.2:g.229431601G>T GRCh38
NC_000001.10:g.229567348G>T , CM000663.1:g.229567348G>T GRCh37
NC_000001.9:g.227633971G>T NCBI36
NG_006672.1:g.7496C>A , LRG_429:g.7496C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.991-37C>A ENSP00000355644.4:n.991-37C>A
ENST00000684723.1:c.897C>A ENSP00000508084.1:p.Gly299=
ENST00000366683.3:c.663C>A ENSP00000355644.3:p.Gly221=
ENST00000366684.7:c.1032C>A MANE Select ENSP00000355645.3:p.Gly344=
NM_001100.3:c.1032C>A , LRG_429t1:c.1032C>A NP_001091.1:p.Gly344=
NM_001100.4:c.1032C>A MANE Select NP_001091.1:p.Gly344=
Search 100 bp 5'
Search 100 bp 3'