Canonical Allele Identifier: CA130967
Gene: ACTN1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 42031
ClinVar RCV Id: RCV000034869
dbSNP Id: rs387907348

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.68925641C>T , CM000676.2:g.68925641C>T GRCh38
NC_000014.8:g.69392358C>T , CM000676.1:g.69392358C>T GRCh37
NC_000014.7:g.68462111C>T NCBI36
NG_029480.1:g.58726G>A , LRG_886:g.58726G>A

Transcript Alleles

HGVS Amino-acid change
NM_001102.3:c.137G>A VV NP_001093.1:p.Arg46Gln
NM_001130004.1:c.137G>A , LRG_886t1:c.137G>A NP_001123476.1:p.Arg46Gln
NM_001130005.1:c.137G>A VV NP_001123477.1:p.Arg46Gln
XM_011537265.1:c.224G>A XP_011535567.1:p.Arg75Gln
XM_011537266.1:c.224G>A XP_011535568.1:p.Arg75Gln
XM_011537267.1:c.224G>A XP_011535569.1:p.Arg75Gln
XM_011537268.1:c.224G>A XP_011535570.1:p.Arg75Gln
XM_011537269.1:c.137G>A XP_011535571.1:p.Arg46Gln
XM_011537270.1:c.74G>A XP_011535572.1:p.Arg25Gln
XM_011537271.1:c.74G>A XP_011535573.1:p.Arg25Gln
XM_011537265.2:c.224G>A
XM_011537266.3:c.224G>A
XM_011537267.3:c.224G>A
XM_011537268.3:c.224G>A
XM_017021720.1:c.224G>A XP_016877209.1:p.Arg75Gln
XM_017021721.2:c.224G>A XP_016877210.1:p.Arg75Gln
XM_017021722.2:c.137G>A XP_016877211.1:p.Arg46Gln
XM_017021723.2:c.137G>A XP_016877212.1:p.Arg46Gln
XM_017021725.1:c.74G>A XP_016877214.1:p.Arg25Gln
XM_017021726.2:c.74G>A XP_016877215.1:p.Arg25Gln
XM_017021727.2:c.137G>A XP_016877216.1:p.Arg46Gln
XM_017021728.2:c.74G>A XP_016877217.1:p.Arg25Gln
ENST00000193403.10:c.137G>A ENSP00000193403.6:p.Arg46Gln
ENST00000376839.7:c.-59G>A ENSP00000366035.3:p.=
ENST00000394419.8:c.137G>A ENSP00000377941.4:p.Arg46Gln
ENST00000438964.6:c.137G>A ENSP00000414272.2:p.Arg46Gln
ENST00000538545.6:c.137G>A ENSP00000439828.2:p.Arg46Gln
ENST00000553370.5:c.-59G>A ENSP00000450925.1:p.=
ENST00000553659.1:c.134G>A ENSP00000451086.1:p.Arg45Gln
ENST00000553779.5:c.-59G>A ENSP00000450618.1:p.=
ENST00000555616.5:c.-59G>A ENSP00000450903.1:p.=
ENST00000556433.5:c.74G>A ENSP00000450764.1:p.Arg25Gln
ENST00000556571.1:c.68G>A ENSP00000452423.1:p.Arg23Gln