Canonical Allele Identifier: CA38814650
Gene: ACTA1 HGNC NCBI

Linked Data

dbSNP Id: rs866113004
gnomAD v4: 1-229431541-G-A
MyVariant Identifiers: chr1:g.229567288G>A (hg19) chr1:g.229431541G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431541G>A , CM000663.2:g.229431541G>A GRCh38
NC_000001.10:g.229567288G>A , CM000663.1:g.229567288G>A GRCh37
NC_000001.9:g.227633911G>A NCBI36
NG_006672.1:g.7556C>T , LRG_429:g.7556C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.1014C>T ENSP00000355644.4:p.Tyr338=
ENST00000684723.1:c.957C>T ENSP00000508084.1:p.Tyr319=
ENST00000366683.3:c.723C>T ENSP00000355644.3:p.Tyr241=
ENST00000366684.7:c.1092C>T MANE Select ENSP00000355645.3:p.Tyr364=
NM_001100.3:c.1092C>T , LRG_429t1:c.1092C>T NP_001091.1:p.Tyr364=
NM_001100.4:c.1092C>T MANE Select NP_001091.1:p.Tyr364=
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