Canonical Allele Identifier: CA390190996

Gene: ACTN1

Linked Data

• ClinVar Variation Id: 627351
• ClinVar RCV Id: RCV000852177
• dbSNP Id: rs1594790025
• gnomAD v4: 14-68904679-T-C
• MyVariant Identifiers: chr14:g.69371396T>C (hg19) ; chr14:g.68904679T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.68904679T>C , CM000676.2:g.68904679T>C	GRCh38
NC_000014.8:g.69371396T>C , CM000676.1:g.69371396T>C	GRCh37
NC_000014.7:g.68441149T>C	NCBI36
NG_029480.1:g.79688A>G , LRG_886:g.79688A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000554508.6:c.457A>G	ENSP00000507578.1:p.Ile153Val
ENST00000682130.1:n.940A>G
ENST00000682291.1:c.652A>G	ENSP00000507093.1:p.Ile218Val
ENST00000682298.1:n.940A>G
ENST00000682331.1:c.652A>G	ENSP00000508329.1:p.Ile218Val
ENST00000682378.1:n.940A>G
ENST00000682381.1:n.940A>G
ENST00000682522.1:n.541A>G
ENST00000682559.1:c.*105A>G	ENSP00000507271.1:n.*105A>G
ENST00000683069.1:n.852A>G
ENST00000683198.1:c.652A>G	ENSP00000507889.1:p.Ile218Val
ENST00000683225.1:c.457A>G	ENSP00000506977.1:p.Ile153Val
ENST00000683261.1:n.940A>G
ENST00000683267.1:c.652A>G	ENSP00000508356.1:p.Ile218Val
ENST00000683342.1:c.652A>G	ENSP00000508301.1:p.Ile218Val
ENST00000683780.1:n.1498A>G
ENST00000684096.1:n.1111A>G
ENST00000684146.1:n.940A>G
ENST00000684182.1:c.457A>G	ENSP00000508177.1:p.Ile153Val
ENST00000684340.1:n.940A>G
ENST00000684598.1:c.652A>G	ENSP00000507785.1:p.Ile218Val
ENST00000684638.1:c.652A>G	ENSP00000507609.1:p.Ile218Val
ENST00000684639.1:c.532A>G	ENSP00000507653.1:p.Ile178Val
ENST00000684713.1:c.652A>G	ENSP00000507155.1:p.Ile218Val
ENST00000394419.9:c.652A>G MANE Select	ENSP00000377941.4:p.Ile218Val
ENST00000679147.1:c.652A>G	ENSP00000504355.1:p.Ile218Val
ENST00000193403.10:c.652A>G	ENSP00000193403.6:p.Ile218Val
ENST00000376839.7:c.457A>G	ENSP00000366035.3:p.Ile153Val
ENST00000394419.8:c.652A>G	ENSP00000377941.4:p.Ile218Val
ENST00000438964.6:c.652A>G	ENSP00000414272.2:p.Ile218Val
ENST00000538545.6:c.652A>G	ENSP00000439828.2:p.Ile218Val
ENST00000554158.1:n.527A>G
ENST00000554508.5:n.345A>G
ENST00000555616.5:c.457A>G	ENSP00000450903.1:p.Ile153Val
ENST00000556433.5:c.589A>G	ENSP00000450764.1:p.Ile197Val
NM_001102.3:c.652A>G	NP_001093.1:p.Ile218Val
NM_001130004.1:c.652A>G , LRG_886t1:c.652A>G	NP_001123476.1:p.Ile218Val
NM_001130005.1:c.652A>G	NP_001123477.1:p.Ile218Val
XM_011537265.1:c.739A>G	XP_011535567.1:p.Ile247Val
XM_011537266.1:c.739A>G	XP_011535568.1:p.Ile247Val
XM_011537267.1:c.739A>G	XP_011535569.1:p.Ile247Val
XM_011537268.1:c.739A>G	XP_011535570.1:p.Ile247Val
XM_011537269.1:c.652A>G	XP_011535571.1:p.Ile218Val
XM_011537270.1:c.589A>G	XP_011535572.1:p.Ile197Val
XM_011537271.1:c.589A>G	XP_011535573.1:p.Ile197Val
XM_011537265.2:c.739A>G	XP_011535567.1:p.Ile247Val
XM_011537266.3:c.739A>G	XP_011535568.1:p.Ile247Val
XM_011537267.3:c.739A>G	XP_011535569.1:p.Ile247Val
XM_011537268.3:c.739A>G	XP_011535570.1:p.Ile247Val
XM_017021720.1:c.739A>G	XP_016877209.1:p.Ile247Val
XM_017021721.2:c.739A>G	XP_016877210.1:p.Ile247Val
XM_017021722.2:c.652A>G	XP_016877211.1:p.Ile218Val
XM_017021723.2:c.652A>G	XP_016877212.1:p.Ile218Val
XM_017021725.1:c.589A>G	XP_016877214.1:p.Ile197Val
XM_017021726.2:c.589A>G	XP_016877215.1:p.Ile197Val
XM_017021727.2:c.652A>G	XP_016877216.1:p.Ile218Val
XM_017021728.2:c.589A>G	XP_016877217.1:p.Ile197Val
NM_001102.4:c.652A>G	NP_001093.1:p.Ile218Val
NM_001130005.2:c.652A>G	NP_001123477.1:p.Ile218Val
NM_001130004.2:c.652A>G MANE Select	NP_001123476.1:p.Ile218Val