Canonical Allele Identifier: CA342825377

Gene: LMNA

Linked Data

• gnomAD v4: 1-156137669-A-G
• MyVariant Identifiers: chr1:g.156107460A>G (hg19) ; chr1:g.156137669A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156137669A>G , CM000663.2:g.156137669A>G	GRCh38
NC_000001.10:g.156107460A>G , CM000663.1:g.156107460A>G	GRCh37
NC_000001.9:g.154374084A>G	NCBI36
NG_008692.2:g.60097A>G , LRG_254:g.60097A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000504687.7:c.1066A>G	ENSP00000426535.3:p.Lys356Glu
ENST00000498722.3:n.856A>G
ENST00000682650.1:c.1608+437A>G	ENSP00000506904.1:n.1608+437A>G
ENST00000683032.1:c.1624A>G	ENSP00000506771.1:p.Lys542Glu
ENST00000684195.1:c.1595A>G	ENSP00000508220.1:p.Gln532Arg
ENST00000361308.9:c.1624A>G	ENSP00000355292.6:p.Lys542Glu
ENST00000368300.9:c.1624A>G MANE Select	ENSP00000357283.4:p.Lys542Glu
ENST00000496738.6:n.2083A>G
ENST00000674518.1:c.*974A>G	ENSP00000502261.1:n.*974A>G
ENST00000674600.1:c.*1423A>G	ENSP00000501666.1:n.*1423A>G
ENST00000674720.1:c.*186A>G	ENSP00000502798.1:n.*186A>G
ENST00000675431.1:n.1317A>G
ENST00000675455.1:c.*1424A>G	ENSP00000501795.1:n.*1424A>G
ENST00000675667.1:c.1624A>G	ENSP00000501803.1:p.Lys542Glu
ENST00000675874.1:c.*1095A>G	ENSP00000501851.1:n.*1095A>G
ENST00000675881.1:c.*635A>G	ENSP00000501670.1:n.*635A>G
ENST00000675939.1:c.1624A>G	ENSP00000502256.1:p.Lys542Glu
ENST00000675989.1:n.2483A>G
ENST00000676208.1:c.*727A>G	ENSP00000502468.1:n.*727A>G
ENST00000676283.1:n.2420A>G
ENST00000676385.2:c.1608+437A>G	ENSP00000502091.1:n.1608+437A>G
ENST00000676434.1:c.*635A>G	ENSP00000501648.1:n.*635A>G
ENST00000677389.1:c.1624A>G MANE Plus Clinical	ENSP00000503633.1:p.Lys542Glu
ENST00000347559.6:c.1608+437A>G	ENSP00000292304.3:n.1608+437A>G
ENST00000361308.8:c.1369A>G	ENSP00000355292.5:p.Lys457Glu
ENST00000368297.5:c.1381A>G	ENSP00000357280.1:p.Lys461Glu
ENST00000368299.7:c.1624A>G	ENSP00000357282.3:p.Lys542Glu
ENST00000368300.8:c.1624A>G	ENSP00000357283.4:p.Lys542Glu
ENST00000368301.6:c.1624A>G	ENSP00000357284.2:p.Lys542Glu
ENST00000448611.6:c.1288A>G	ENSP00000395597.2:p.Lys430Glu
ENST00000473598.6:c.1327A>G	ENSP00000421821.1:p.Lys443Glu
ENST00000496738.5:n.1093A>G
ENST00000498722.2:n.856A>G
ENST00000506981.1:n.208A>G
ENST00000508500.1:c.486+437A>G	ENSP00000424977.1:n.486+437A>G
NM_001257374.2:c.1288A>G	NP_001244303.1:p.Lys430Glu
NM_001282624.1:c.1381A>G	NP_001269553.1:p.Lys461Glu
NM_001282625.1:c.1624A>G	NP_001269554.1:p.Lys542Glu
NM_001282626.1:c.1624A>G	NP_001269555.1:p.Lys542Glu
NM_005572.3:c.1624A>G , LRG_254t1:c.1624A>G	NP_005563.1:p.Lys542Glu
NM_170707.3:c.1624A>G	NP_733821.1:p.Lys542Glu
NM_170708.3:c.1608+437A>G	NP_733822.1:n.1608+437A>G
XM_011509533.1:c.1288A>G	XP_011507835.1:p.Lys430Glu
XM_011509534.1:c.1000A>G	XP_011507836.1:p.Lys334Glu
XR_921781.1:n.1913A>G
XM_011509534.2:c.1000A>G	XP_011507836.1:p.Lys334Glu
XR_921781.2:n.1911A>G
NM_170707.4:c.1624A>G MANE Select	NP_733821.1:p.Lys542Glu
NM_001257374.3:c.1288A>G	NP_001244303.1:p.Lys430Glu
NM_001282626.2:c.1624A>G	NP_001269555.1:p.Lys542Glu
NM_001282624.2:c.1381A>G	NP_001269553.1:p.Lys461Glu
NM_001282625.2:c.1624A>G	NP_001269554.1:p.Lys542Glu
NM_005572.4:c.1624A>G MANE Plus Clinical	NP_005563.1:p.Lys542Glu
NM_170708.4:c.1608+437A>G	NP_733822.1:n.1608+437A>G