Canonical Allele Identifier: CA1442849
Gene: ACTA1 HGNC NCBI

Linked Data

dbSNP Id: rs779530455
ExAC: 1:229568162 G / A
gnomAD v2: 1-229568162-G-A
gnomAD v4: 1-229432415-G-A
MyVariant Identifiers: chr1:g.229568162G>A (hg19) chr1:g.229432415G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432415G>A , CM000663.2:g.229432415G>A GRCh38
NC_000001.10:g.229568162G>A , CM000663.1:g.229568162G>A GRCh37
NC_000001.9:g.227634785G>A NCBI36
NG_006672.1:g.6682C>T , LRG_429:g.6682C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.471C>T ENSP00000355644.4:p.Ser157=
ENST00000684723.1:c.336C>T ENSP00000508084.1:p.Ser112=
ENST00000366683.3:c.471C>T ENSP00000355644.3:p.Ser157=
ENST00000366684.7:c.471C>T MANE Select ENSP00000355645.3:p.Ser157=
NM_001100.3:c.471C>T , LRG_429t1:c.471C>T NP_001091.1:p.Ser157=
NM_001100.4:c.471C>T MANE Select NP_001091.1:p.Ser157=
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