Canonical Allele Identifier: CA16603588
Gene: ACTA1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.229432063C>G
GRCh37 chr1:g.229567810C>G
Revel Score:
ENST00000366684 (MANE Select) 0.957
ENST00000308794 0.957
ENST00000366683 0.957
ENST00000366682 0.957
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432063C>G , CM000663.2:g.229432063C>G GRCh38
NC_000001.10:g.229567810C>G , CM000663.1:g.229567810C>G GRCh37
NC_000001.9:g.227634433C>G NCBI36
NG_006672.1:g.7034G>C , LRG_429:g.7034G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.739G>C ENSP00000355644.4:p.Gly247Arg
ENST00000684723.1:c.604G>C ENSP00000508084.1:p.Gly202Arg
ENST00000366683.3:c.480-201G>C ENSP00000355644.3:n.480-201G>C
ENST00000366684.7:c.739G>C MANE Select ENSP00000355645.3:p.Gly247Arg
NM_001100.3:c.739G>C , LRG_429t1:c.739G>C NP_001091.1:p.Gly247Arg
NM_001100.4:c.739G>C MANE Select NP_001091.1:p.Gly247Arg
Search 100 bp 5'
Search 100 bp 3'