Canonical Allele Identifier: CA391629711
Gene: ACTC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34792102G>T , CM000677.2:g.34792102G>T GRCh38
NC_000015.9:g.35084303G>T , CM000677.1:g.35084303G>T GRCh37
NC_000015.8:g.32871595G>T NCBI36
NG_007553.1:g.8625C>A , LRG_388:g.8625C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000290378.6:c.796C>A MANE Select ENSP00000290378.4:p.Pro266Thr
ENST00000647798.1:n.890C>A
ENST00000650163.1:n.876C>A
ENST00000290378.4:c.796C>A ENSP00000290378.4:p.Pro266Thr
ENST00000557860.1:n.486C>A
ENST00000560563.1:n.295C>A
NM_005159.4:c.796C>A , LRG_388t1:c.796C>A NP_005150.1:p.Pro266Thr
NR_120329.1:n.299+14671G>T
NM_005159.5:c.796C>A MANE Select NP_005150.1:p.Pro266Thr