Canonical Allele Identifier: CA020006
Gene: ACTC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 180770
ClinVar RCV Id: RCV000157798
dbSNP Id: rs730880403

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34791152C>T , CM000677.2:g.34791152C>T GRCh38
NC_000015.9:g.35083353C>T , CM000677.1:g.35083353C>T GRCh37
NC_000015.8:g.32870645C>T NCBI36
NG_007553.1:g.9575G>A , LRG_388:g.9575G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000290378.6:c.952G>A MANE Select ENSP00000290378.4:p.Glu318Lys
ENST00000647798.1:n.1046G>A
ENST00000650163.1:n.1032G>A
ENST00000290378.4:c.952G>A ENSP00000290378.4:p.Glu318Lys
NM_005159.4:c.952G>A , LRG_388t1:c.952G>A NP_005150.1:p.Glu318Lys
NR_120329.1:n.299+13721C>T
NM_005159.5:c.952G>A MANE Select NP_005150.1:p.Glu318Lys