Canonical Allele Identifier: CA342825401

Gene: LMNA

Linked Data

• gnomAD v4: 1-156137672-C-A
• MyVariant Identifiers: chr1:g.156107463C>A (hg19) ; chr1:g.156137672C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156137672C>A , CM000663.2:g.156137672C>A	GRCh38
NC_000001.10:g.156107463C>A , CM000663.1:g.156107463C>A	GRCh37
NC_000001.9:g.154374087C>A	NCBI36
NG_008692.2:g.60100C>A , LRG_254:g.60100C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.1069C>A	ENSP00000426535.3:p.Leu357Met
ENST00000498722.3:n.859C>A
ENST00000682650.1:c.1608+440C>A	ENSP00000506904.1:n.1608+440C>A
ENST00000683032.1:c.1627C>A	ENSP00000506771.1:p.Leu543Met
ENST00000684195.1:c.1598C>A	ENSP00000508220.1:p.Ala533Asp
ENST00000361308.9:c.1627C>A	ENSP00000355292.6:p.Leu543Met
ENST00000368300.9:c.1627C>A MANE Select	ENSP00000357283.4:p.Leu543Met
ENST00000496738.6:n.2086C>A
ENST00000674518.1:c.*977C>A	ENSP00000502261.1:n.*977C>A
ENST00000674600.1:c.*1426C>A	ENSP00000501666.1:n.*1426C>A
ENST00000674720.1:c.*189C>A	ENSP00000502798.1:n.*189C>A
ENST00000675431.1:n.1320C>A
ENST00000675455.1:c.*1427C>A	ENSP00000501795.1:n.*1427C>A
ENST00000675667.1:c.1627C>A	ENSP00000501803.1:p.Leu543Met
ENST00000675874.1:c.*1098C>A	ENSP00000501851.1:n.*1098C>A
ENST00000675881.1:c.*638C>A	ENSP00000501670.1:n.*638C>A
ENST00000675939.1:c.1627C>A	ENSP00000502256.1:p.Leu543Met
ENST00000675989.1:n.2486C>A
ENST00000676208.1:c.*730C>A	ENSP00000502468.1:n.*730C>A
ENST00000676283.1:n.2423C>A
ENST00000676385.2:c.1608+440C>A	ENSP00000502091.1:n.1608+440C>A
ENST00000676434.1:c.*638C>A	ENSP00000501648.1:n.*638C>A
ENST00000677389.1:c.1627C>A MANE Plus Clinical	ENSP00000503633.1:p.Leu543Met
ENST00000347559.6:c.1608+440C>A	ENSP00000292304.3:n.1608+440C>A
ENST00000361308.8:c.1372C>A	ENSP00000355292.5:p.Leu458Met
ENST00000368297.5:c.1384C>A	ENSP00000357280.1:p.Leu462Met
ENST00000368299.7:c.1627C>A	ENSP00000357282.3:p.Leu543Met
ENST00000368300.8:c.1627C>A	ENSP00000357283.4:p.Leu543Met
ENST00000368301.6:c.1627C>A	ENSP00000357284.2:p.Leu543Met
ENST00000448611.6:c.1291C>A	ENSP00000395597.2:p.Leu431Met
ENST00000473598.6:c.1330C>A	ENSP00000421821.1:p.Leu444Met
ENST00000496738.5:n.1096C>A
ENST00000498722.2:n.859C>A
ENST00000506981.1:n.211C>A
ENST00000508500.1:c.486+440C>A	ENSP00000424977.1:n.486+440C>A
NM_001257374.2:c.1291C>A	NP_001244303.1:p.Leu431Met
NM_001282624.1:c.1384C>A	NP_001269553.1:p.Leu462Met
NM_001282625.1:c.1627C>A	NP_001269554.1:p.Leu543Met
NM_001282626.1:c.1627C>A	NP_001269555.1:p.Leu543Met
NM_005572.3:c.1627C>A , LRG_254t1:c.1627C>A	NP_005563.1:p.Leu543Met
NM_170707.3:c.1627C>A	NP_733821.1:p.Leu543Met
NM_170708.3:c.1608+440C>A	NP_733822.1:n.1608+440C>A
XM_011509533.1:c.1291C>A	XP_011507835.1:p.Leu431Met
XM_011509534.1:c.1003C>A	XP_011507836.1:p.Leu335Met
XR_921781.1:n.1916C>A
XM_011509534.2:c.1003C>A	XP_011507836.1:p.Leu335Met
XR_921781.2:n.1914C>A
NM_170707.4:c.1627C>A MANE Select	NP_733821.1:p.Leu543Met
NM_001257374.3:c.1291C>A	NP_001244303.1:p.Leu431Met
NM_001282626.2:c.1627C>A	NP_001269555.1:p.Leu543Met
NM_001282624.2:c.1384C>A	NP_001269553.1:p.Leu462Met
NM_001282625.2:c.1627C>A	NP_001269554.1:p.Leu543Met
NM_005572.4:c.1627C>A MANE Plus Clinical	NP_005563.1:p.Leu543Met
NM_170708.4:c.1608+440C>A	NP_733822.1:n.1608+440C>A