Canonical Allele Identifier: CA019824
Gene: ACTC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 45183
dbSNP Id: rs397517065

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34792471G>A , CM000677.2:g.34792471G>A GRCh38
NC_000015.9:g.35084672G>A , CM000677.1:g.35084672G>A GRCh37
NC_000015.8:g.32871964G>A NCBI36
NG_007553.1:g.8256C>T , LRG_388:g.8256C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000290378.6:c.553C>T MANE Select ENSP00000290378.4:p.Arg185Trp
ENST00000647798.1:n.647C>T
ENST00000648556.1:n.710C>T
ENST00000650163.1:n.633C>T
ENST00000290378.4:c.553C>T ENSP00000290378.4:p.Arg185Trp
ENST00000557860.1:n.243C>T
ENST00000560563.1:n.52C>T
NM_005159.4:c.553C>T , LRG_388t1:c.553C>T NP_005150.1:p.Arg185Trp
NR_120329.1:n.299+15040G>A
NM_005159.5:c.553C>T MANE Select NP_005150.1:p.Arg185Trp