Canonical Allele Identifier: CA019648
Gene: ACTC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 180774
dbSNP Id: rs730880407

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34790434A>G , CM000677.2:g.34790434A>G GRCh38
NC_000015.9:g.35082635A>G , CM000677.1:g.35082635A>G GRCh37
NC_000015.8:g.32869927A>G NCBI36
NG_007553.1:g.10293T>C , LRG_388:g.10293T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000290378.6:c.1112T>C MANE Select ENSP00000290378.4:p.Ile371Thr
ENST00000647798.1:n.1206T>C
ENST00000650163.1:n.1192T>C
ENST00000290378.4:c.1112T>C ENSP00000290378.4:p.Ile371Thr
NM_005159.4:c.1112T>C , LRG_388t1:c.1112T>C NP_005150.1:p.Ile371Thr
NR_120329.1:n.299+13003A>G
NM_005159.5:c.1112T>C MANE Select NP_005150.1:p.Ile371Thr