Canonical Allele Identifier: CA345144937
Gene: ACTA1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.229431629G>C
GRCh37 chr1:g.229567376G>C
Revel Score:
ENST00000366684 (MANE Select) 0.842
ENST00000308794 0.842
ENST00000366683 0.842
ENST00000366682 0.842
ENST00000342787 0.842
ClinVar RCV:
RCV000986566
ClinVar Variation:
801631
dbSNP:
1057518493
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431629G>C , CM000663.2:g.229431629G>C GRCh38
NC_000001.10:g.229567376G>C , CM000663.1:g.229567376G>C GRCh37
NC_000001.9:g.227633999G>C NCBI36
NG_006672.1:g.7468C>G , LRG_429:g.7468C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.991-65C>G ENSP00000355644.4:n.991-65C>G
ENST00000684723.1:c.869C>G ENSP00000508084.1:p.Pro290Arg
ENST00000366683.3:c.635C>G ENSP00000355644.3:p.Pro212Arg
ENST00000366684.7:c.1004C>G MANE Select ENSP00000355645.3:p.Pro335Arg
NM_001100.3:c.1004C>G , LRG_429t1:c.1004C>G NP_001091.1:p.Pro335Arg
NM_001100.4:c.1004C>G MANE Select NP_001091.1:p.Pro335Arg
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