Canonical Allele Identifier: CA391629717
Gene: ACTC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34792105G>A , CM000677.2:g.34792105G>A GRCh38
NC_000015.9:g.35084306G>A , CM000677.1:g.35084306G>A GRCh37
NC_000015.8:g.32871598G>A NCBI36
NG_007553.1:g.8622C>T , LRG_388:g.8622C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000290378.6:c.793C>T MANE Select ENSP00000290378.4:p.Gln265Ter
ENST00000647798.1:n.887C>T
ENST00000650163.1:n.873C>T
ENST00000290378.4:c.793C>T ENSP00000290378.4:p.Gln265Ter
ENST00000557860.1:n.483C>T
ENST00000560563.1:n.292C>T
NM_005159.4:c.793C>T , LRG_388t1:c.793C>T NP_005150.1:p.Gln265Ter
NR_120329.1:n.299+14674G>A
NM_005159.5:c.793C>T MANE Select NP_005150.1:p.Gln265Ter