Canonical Allele Identifier: CA130961
Gene: ACTN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 42029
ClinVar RCV Id: RCV000034867
dbSNP Id: rs387907346

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.68978963G>T , CM000676.2:g.68978963G>T GRCh38
NC_000014.8:g.69445680G>T , CM000676.1:g.69445680G>T GRCh37
NC_000014.7:g.68515433G>T NCBI36
NG_029480.1:g.5404C>A , LRG_886:g.5404C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000394419.9:c.94C>A MANE Select ENSP00000377941.4:p.Gln32Lys
ENST00000679147.1:c.94C>A ENSP00000504355.1:p.Gln32Lys
ENST00000193403.10:c.94C>A ENSP00000193403.6:p.Gln32Lys
ENST00000394419.8:c.94C>A ENSP00000377941.4:p.Gln32Lys
ENST00000438964.6:c.94C>A ENSP00000414272.2:p.Gln32Lys
ENST00000538545.6:c.94C>A ENSP00000439828.2:p.Gln32Lys
ENST00000556203.1:n.69C>A
NM_001102.3:c.94C>A NP_001093.1:p.Gln32Lys
NM_001130004.1:c.94C>A , LRG_886t1:c.94C>A NP_001123476.1:p.Gln32Lys
NM_001130005.1:c.94C>A NP_001123477.1:p.Gln32Lys
XM_011537269.1:c.94C>A XP_011535571.1:p.Gln32Lys
XM_017021722.2:c.94C>A XP_016877211.1:p.Gln32Lys
XM_017021723.2:c.94C>A XP_016877212.1:p.Gln32Lys
XM_017021727.2:c.94C>A XP_016877216.1:p.Gln32Lys
NM_001102.4:c.94C>A NP_001093.1:p.Gln32Lys
NM_001130005.2:c.94C>A NP_001123477.1:p.Gln32Lys
NM_001130004.2:c.94C>A MANE Select NP_001123476.1:p.Gln32Lys