Canonical Allele Identifier: CA051614

Gene: LMNA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156138679G>A , CM000663.2:g.156138679G>A	GRCh38
NC_000001.10:g.156108470G>A , CM000663.1:g.156108470G>A	GRCh37
NC_000001.9:g.154375094G>A	NCBI36
NG_008692.2:g.61107G>A , LRG_254:g.61107G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_170707.4:c.1890G>A MANE Select	NP_733821.1:p.Gly630=
ENST00000368300.9:c.1890G>A MANE Select	ENSP00000357283.4:p.Gly630=
NM_001257374.2:c.1554G>A	NP_001244303.1:p.Gly518=
NM_001257374.3:c.1554G>A	NP_001244303.1:p.Gly518=
NM_001282626.1:c.1818+72G>A	NP_001269555.1:n.1818+72G>A
NM_001282626.2:c.1818+72G>A	NP_001269555.1:n.1818+72G>A
NM_170707.3:c.1890G>A	NP_733821.1:p.Gly630=
NM_170708.3:c.1800G>A	NP_733822.1:p.Gly600=
NM_170708.4:c.1800G>A	NP_733822.1:p.Gly600=
ENST00000347559.6:c.1800G>A	ENSP00000292304.3:p.Gly600=
ENST00000361308.9:c.1890G>A	ENSP00000355292.6:p.Gly630=
ENST00000368299.7:c.1818+72G>A	ENSP00000357282.3:n.1818+72G>A
ENST00000368300.8:c.1890G>A	ENSP00000357283.4:p.Gly630=
ENST00000448611.6:c.1554G>A	ENSP00000395597.2:p.Gly518=
ENST00000473598.6:c.1593G>A	ENSP00000421821.1:p.Gly531=
ENST00000496738.5:n.2103G>A
ENST00000504687.7:c.1332G>A	ENSP00000426535.3:p.Gly444=
ENST00000506981.1:n.474G>A
ENST00000508500.1:c.678G>A	ENSP00000424977.1:p.Gly226=
ENST00000674518.1:c.*1240G>A	ENSP00000502261.1:n.*1240G>A
ENST00000674600.1:c.*1689G>A	ENSP00000501666.1:n.*1689G>A
ENST00000675455.1:c.*1690G>A	ENSP00000501795.1:n.*1690G>A
ENST00000675667.1:c.1890G>A	ENSP00000501803.1:p.Gly630=
ENST00000675874.1:c.*1361G>A	ENSP00000501851.1:n.*1361G>A
ENST00000675881.1:c.*901G>A	ENSP00000501670.1:n.*901G>A
ENST00000675939.1:c.1890G>A	ENSP00000502256.1:p.Gly630=
ENST00000675989.1:n.3493G>A
ENST00000676208.1:c.*993G>A	ENSP00000502468.1:n.*993G>A
ENST00000676385.2:c.1800G>A	ENSP00000502091.1:p.Gly600=
ENST00000676434.1:c.*1645G>A	ENSP00000501648.1:n.*1645G>A
ENST00000682650.1:c.1800G>A	ENSP00000506904.1:p.Gly600=
ENST00000683032.1:c.1890G>A	ENSP00000506771.1:p.Gly630=
ENST00000683773.1:n.163+72G>A
ENST00000684195.1:c.*982G>A	ENSP00000508220.1:n.*982G>A
XM_011509533.1:c.1554G>A	XP_011507835.1:p.Gly518=
XM_011509534.1:c.1266G>A	XP_011507836.1:p.Gly422=
XM_011509534.2:c.1266G>A	XP_011507836.1:p.Gly422=
XR_921781.1:n.2179G>A
XR_921781.2:n.2177G>A