Canonical Allele Identifier: CA342817720

Gene: LMNA

Linked Data

• ClinVar Variation Id: 2990583
• ClinVar RCV Id: RCV003847262
• dbSNP Id: rs1651454980
• gnomAD v4: 1-156135254-A-G
• MyVariant Identifiers: chr1:g.156105045A>G (hg19) ; chr1:g.156135254A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156135254A>G , CM000663.2:g.156135254A>G	GRCh38
NC_000001.10:g.156105045A>G , CM000663.1:g.156105045A>G	GRCh37
NC_000001.9:g.154371669A>G	NCBI36
NG_008692.2:g.57682A>G , LRG_254:g.57682A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.320A>G	ENSP00000426535.3:p.Gln107Arg
ENST00000682650.1:c.878A>G	ENSP00000506904.1:p.Gln293Arg
ENST00000683032.1:c.878A>G	ENSP00000506771.1:p.Gln293Arg
ENST00000684195.1:c.878A>G	ENSP00000508220.1:p.Gln293Arg
ENST00000361308.9:c.878A>G	ENSP00000355292.6:p.Gln293Arg
ENST00000368300.9:c.878A>G MANE Select	ENSP00000357283.4:p.Gln293Arg
ENST00000496738.6:n.1253A>G
ENST00000674518.1:c.*228A>G	ENSP00000502261.1:n.*228A>G
ENST00000674600.1:c.*677A>G	ENSP00000501666.1:n.*677A>G
ENST00000674720.1:c.878A>G	ENSP00000502798.1:p.Gln293Arg
ENST00000675431.1:n.571A>G
ENST00000675455.1:c.*678A>G	ENSP00000501795.1:n.*678A>G
ENST00000675667.1:c.878A>G	ENSP00000501803.1:p.Gln293Arg
ENST00000675874.1:c.*349A>G	ENSP00000501851.1:n.*349A>G
ENST00000675881.1:c.878A>G	ENSP00000501670.1:p.Gln293Arg
ENST00000675939.1:c.878A>G	ENSP00000502256.1:p.Gln293Arg
ENST00000675989.1:n.1253A>G
ENST00000676208.1:c.878A>G	ENSP00000502468.1:p.Gln293Arg
ENST00000676283.1:n.1253A>G
ENST00000676385.2:c.878A>G	ENSP00000502091.1:p.Gln293Arg
ENST00000676434.1:c.878A>G	ENSP00000501648.1:p.Gln293Arg
ENST00000677389.1:c.878A>G MANE Plus Clinical	ENSP00000503633.1:p.Gln293Arg
ENST00000347559.6:c.878A>G	ENSP00000292304.3:p.Gln293Arg
ENST00000361308.8:c.878A>G	ENSP00000355292.5:p.Gln293Arg
ENST00000368297.5:c.635A>G	ENSP00000357280.1:p.Gln212Arg
ENST00000368298.2:n.142A>G
ENST00000368299.7:c.878A>G	ENSP00000357282.3:p.Gln293Arg
ENST00000368300.8:c.878A>G	ENSP00000357283.4:p.Gln293Arg
ENST00000368301.6:c.878A>G	ENSP00000357284.2:p.Gln293Arg
ENST00000448611.6:c.542A>G	ENSP00000395597.2:p.Gln181Arg
ENST00000473598.6:c.581A>G	ENSP00000421821.1:p.Gln194Arg
ENST00000496738.5:n.223A>G
ENST00000515824.1:n.239A>G
NM_001257374.2:c.542A>G	NP_001244303.1:p.Gln181Arg
NM_001282624.1:c.635A>G	NP_001269553.1:p.Gln212Arg
NM_001282625.1:c.878A>G	NP_001269554.1:p.Gln293Arg
NM_001282626.1:c.878A>G	NP_001269555.1:p.Gln293Arg
NM_005572.3:c.878A>G , LRG_254t1:c.878A>G	NP_005563.1:p.Gln293Arg
NM_170707.3:c.878A>G	NP_733821.1:p.Gln293Arg
NM_170708.3:c.878A>G	NP_733822.1:p.Gln293Arg
XM_011509533.1:c.542A>G	XP_011507835.1:p.Gln181Arg
XM_011509534.1:c.214A>G	XP_011507836.1:p.Ser72Gly
XR_921781.1:n.1127A>G
XM_011509534.2:c.214A>G	XP_011507836.1:p.Ser72Gly
XR_921781.2:n.1125A>G
NM_170707.4:c.878A>G MANE Select	NP_733821.1:p.Gln293Arg
NM_001257374.3:c.542A>G	NP_001244303.1:p.Gln181Arg
NM_001282626.2:c.878A>G	NP_001269555.1:p.Gln293Arg
NM_001282624.2:c.635A>G	NP_001269553.1:p.Gln212Arg
NM_001282625.2:c.878A>G	NP_001269554.1:p.Gln293Arg
NM_005572.4:c.878A>G MANE Plus Clinical	NP_005563.1:p.Gln293Arg
NM_170708.4:c.878A>G	NP_733822.1:p.Gln293Arg