Canonical Allele Identifier: CA019794
Gene: ACTC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 18330
ClinVar RCV Id: RCV000019995
dbSNP Id: rs267606628

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34792528G>C , CM000677.2:g.34792528G>C GRCh38
NC_000015.9:g.35084729G>C , CM000677.1:g.35084729G>C GRCh37
NC_000015.8:g.32872021G>C NCBI36
NG_007553.1:g.8199C>G , LRG_388:g.8199C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000290378.6:c.496C>G MANE Select ENSP00000290378.4:p.Pro166Ala
ENST00000647798.1:n.590C>G
ENST00000648556.1:n.653C>G
ENST00000650163.1:n.576C>G
ENST00000290378.4:c.496C>G ENSP00000290378.4:p.Pro166Ala
ENST00000557860.1:n.186C>G
NM_005159.4:c.496C>G , LRG_388t1:c.496C>G NP_005150.1:p.Pro166Ala
NR_120329.1:n.299+15097G>C
NM_005159.5:c.496C>G MANE Select NP_005150.1:p.Pro166Ala