Canonical Allele Identifier: CA019894
Gene: ACTC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 180763
dbSNP Id: rs730880398

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34792143A>G , CM000677.2:g.34792143A>G GRCh38
NC_000015.9:g.35084344A>G , CM000677.1:g.35084344A>G GRCh37
NC_000015.8:g.32871636A>G NCBI36
NG_007553.1:g.8584T>C , LRG_388:g.8584T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000290378.6:c.755T>C MANE Select ENSP00000290378.4:p.Ile252Thr
ENST00000647798.1:n.849T>C
ENST00000650163.1:n.835T>C
ENST00000290378.4:c.755T>C ENSP00000290378.4:p.Ile252Thr
ENST00000557860.1:n.445T>C
ENST00000560563.1:n.254T>C
NM_005159.4:c.755T>C , LRG_388t1:c.755T>C NP_005150.1:p.Ile252Thr
NR_120329.1:n.299+14712A>G
NM_005159.5:c.755T>C MANE Select NP_005150.1:p.Ile252Thr