Canonical Allele Identifier: CA7241961

Gene: ACTN1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.68875189G>A , CM000676.2:g.68875189G>A	GRCh38
NC_000014.8:g.69341906G>A , CM000676.1:g.69341906G>A	GRCh37
NC_000014.7:g.68411659G>A	NCBI36
NG_029480.1:g.109178C>T , LRG_886:g.109178C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553882.2:n.2019-172C>T
ENST00000682130.1:n.3828-172C>T
ENST00000682291.1:c.2584-172C>T	ENSP00000507093.1:n.2584-172C>T
ENST00000682298.1:n.4177-172C>T
ENST00000682331.1:c.2323-172C>T	ENSP00000508329.1:n.2323-172C>T
ENST00000682378.1:n.4557-172C>T
ENST00000682381.1:n.4092-172C>T
ENST00000682522.1:n.2476-172C>T
ENST00000682559.1:c.*2040-172C>T	ENSP00000507271.1:n.*2040-172C>T
ENST00000683069.1:n.3923-172C>T
ENST00000683198.1:c.2611-172C>T	ENSP00000507889.1:n.2611-172C>T
ENST00000683225.1:c.2311-172C>T	ENSP00000506977.1:n.2311-172C>T
ENST00000683267.1:c.*1799-172C>T	ENSP00000508356.1:n.*1799-172C>T
ENST00000683342.1:c.2587-43C>T	ENSP00000508301.1:n.2587-43C>T
ENST00000683780.1:n.3433-172C>T
ENST00000684146.1:n.3340-172C>T
ENST00000684182.1:c.2326-172C>T	ENSP00000508177.1:n.2326-172C>T
ENST00000684287.1:n.1853-172C>T
ENST00000684340.1:n.4011-172C>T
ENST00000684598.1:c.2503-172C>T	ENSP00000507785.1:n.2503-172C>T
ENST00000684638.1:c.*1865-172C>T	ENSP00000507609.1:n.*1865-172C>T
ENST00000684639.1:c.2467-172C>T	ENSP00000507653.1:n.2467-172C>T
ENST00000684713.1:c.2494-172C>T	ENSP00000507155.1:n.2494-172C>T
ENST00000394419.9:c.2587-172C>T MANE Select	ENSP00000377941.4:n.2587-172C>T
ENST00000679147.1:c.2530-172C>T	ENSP00000504355.1:n.2530-172C>T
ENST00000193403.10:c.2521-172C>T	ENSP00000193403.6:n.2521-172C>T
ENST00000376839.7:c.2311-172C>T	ENSP00000366035.3:n.2311-172C>T
ENST00000394419.8:c.2587-172C>T	ENSP00000377941.4:n.2587-172C>T
ENST00000438964.6:c.2506-172C>T	ENSP00000414272.2:n.2506-172C>T
ENST00000538545.6:c.2506-43C>T	ENSP00000439828.2:n.2506-43C>T
ENST00000553882.1:n.1942-172C>T
ENST00000555075.5:c.597-172C>T
ENST00000556083.1:n.3975-172C>T
NM_001102.3:c.2521-172C>T	NP_001093.1:n.2521-172C>T
NM_001130004.1:c.2587-172C>T , LRG_886t1:c.2587-172C>T	NP_001123476.1:n.2587-172C>T
NM_001130005.1:c.2506-172C>T	NP_001123477.1:n.2506-172C>T
XM_011537265.1:c.2632-172C>T	XP_011535567.1:n.2632-172C>T
XM_011537266.1:c.2617-172C>T	XP_011535568.1:n.2617-172C>T
XM_011537267.1:c.2608-172C>T	XP_011535569.1:n.2608-172C>T
XM_011537268.1:c.2593-172C>T	XP_011535570.1:n.2593-172C>T
XM_011537269.1:c.2545-172C>T	XP_011535571.1:n.2545-172C>T
XM_011537270.1:c.2482-172C>T	XP_011535572.1:n.2482-172C>T
XM_011537271.1:c.2458-172C>T	XP_011535573.1:n.2458-172C>T
XM_011537265.2:c.2632-172C>T	XP_011535567.1:n.2632-172C>T
XM_011537266.3:c.2617-172C>T	XP_011535568.1:n.2617-172C>T
XM_011537267.3:c.2608-172C>T	XP_011535569.1:n.2608-172C>T
XM_011537268.3:c.2593-172C>T	XP_011535570.1:n.2593-172C>T
XM_017021720.1:c.3163-172C>T	XP_016877209.1:n.3163-172C>T
XM_017021721.2:c.3139-172C>T	XP_016877210.1:n.3139-172C>T
XM_017021722.2:c.3076-172C>T	XP_016877211.1:n.3076-172C>T
XM_017021723.2:c.3052-172C>T	XP_016877212.1:n.3052-172C>T
XM_017021725.1:c.3013-172C>T	XP_016877214.1:n.3013-172C>T
XM_017021726.2:c.2989-172C>T	XP_016877215.1:n.2989-172C>T
XM_017021727.2:c.2530-172C>T	XP_016877216.1:n.2530-172C>T
XM_017021728.2:c.2443-172C>T	XP_016877217.1:n.2443-172C>T
NM_001102.4:c.2521-172C>T	NP_001093.1:n.2521-172C>T
NM_001130005.2:c.2506-172C>T	NP_001123477.1:n.2506-172C>T
NM_001130004.2:c.2587-172C>T MANE Select	NP_001123476.1:n.2587-172C>T