Canonical Allele Identifier: CA423755255
Gene: ACTA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.229567913G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432166G>T , CM000663.2:g.229432166G>T GRCh38
NC_000001.10:g.229567913G>T , CM000663.1:g.229567913G>T GRCh37
NC_000001.9:g.227634536G>T NCBI36
NG_006672.1:g.6931C>A , LRG_429:g.6931C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.636C>A ENSP00000355644.4:p.Arg212=
ENST00000684723.1:c.501C>A ENSP00000508084.1:p.Arg167=
ENST00000366683.3:c.479+241C>A ENSP00000355644.3:n.479+241C>A
ENST00000366684.7:c.636C>A MANE Select ENSP00000355645.3:p.Arg212=
NM_001100.3:c.636C>A , LRG_429t1:c.636C>A NP_001091.1:p.Arg212=
NM_001100.4:c.636C>A MANE Select NP_001091.1:p.Arg212=
Search 100 bp 5'
Search 100 bp 3'