Canonical Allele Identifier: CA342826667

Gene: LMNA

Linked Data

• ClinVar Variation Id: 1779689
• ClinVar RCV Id: RCV002401744 ; RCV004007361
• dbSNP Id: rs1651861063
• MyVariant Identifiers: chr1:g.156108346G>A (hg19) ; chr1:g.156138555G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156138555G>A , CM000663.2:g.156138555G>A	GRCh38
NC_000001.10:g.156108346G>A , CM000663.1:g.156108346G>A	GRCh37
NC_000001.9:g.154374970G>A	NCBI36
NG_008692.2:g.60983G>A , LRG_254:g.60983G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.1208G>A	ENSP00000426535.3:p.Gly403Glu
ENST00000682650.1:c.1676G>A	ENSP00000506904.1:p.Gly559Glu
ENST00000683032.1:c.1766G>A	ENSP00000506771.1:p.Gly589Glu
ENST00000683773.1:n.111G>A
ENST00000684195.1:c.*858G>A	ENSP00000508220.1:n.*858G>A
ENST00000361308.9:c.1766G>A	ENSP00000355292.6:p.Gly589Glu
ENST00000368300.9:c.1766G>A MANE Select	ENSP00000357283.4:p.Gly589Glu
ENST00000496738.6:n.2969G>A
ENST00000674518.1:c.*1116G>A	ENSP00000502261.1:n.*1116G>A
ENST00000674600.1:c.*1565G>A	ENSP00000501666.1:n.*1565G>A
ENST00000674720.1:c.*1072G>A	ENSP00000502798.1:n.*1072G>A
ENST00000675455.1:c.*1566G>A	ENSP00000501795.1:n.*1566G>A
ENST00000675667.1:c.1766G>A	ENSP00000501803.1:p.Gly589Glu
ENST00000675874.1:c.*1237G>A	ENSP00000501851.1:n.*1237G>A
ENST00000675881.1:c.*777G>A	ENSP00000501670.1:n.*777G>A
ENST00000675939.1:c.1766G>A	ENSP00000502256.1:p.Gly589Glu
ENST00000675989.1:n.3369G>A
ENST00000676208.1:c.*869G>A	ENSP00000502468.1:n.*869G>A
ENST00000676283.1:n.3306G>A
ENST00000676385.2:c.1676G>A	ENSP00000502091.1:p.Gly559Glu
ENST00000676434.1:c.*1521G>A	ENSP00000501648.1:n.*1521G>A
ENST00000347559.6:c.1676G>A	ENSP00000292304.3:p.Gly559Glu
ENST00000368299.7:c.1766G>A	ENSP00000357282.3:p.Gly589Glu
ENST00000368300.8:c.1766G>A	ENSP00000357283.4:p.Gly589Glu
ENST00000448611.6:c.1430G>A	ENSP00000395597.2:p.Gly477Glu
ENST00000473598.6:c.1469G>A	ENSP00000421821.1:p.Gly490Glu
ENST00000496738.5:n.1979G>A
ENST00000506981.1:n.350G>A
ENST00000508500.1:c.554G>A	ENSP00000424977.1:p.Gly185Glu
NM_001257374.2:c.1430G>A	NP_001244303.1:p.Gly477Glu
NM_001282626.1:c.1766G>A	NP_001269555.1:p.Gly589Glu
NM_170707.3:c.1766G>A	NP_733821.1:p.Gly589Glu
NM_170708.3:c.1676G>A	NP_733822.1:p.Gly559Glu
XM_011509533.1:c.1430G>A	XP_011507835.1:p.Gly477Glu
XM_011509534.1:c.1142G>A	XP_011507836.1:p.Gly381Glu
XR_921781.1:n.2055G>A
XM_011509534.2:c.1142G>A	XP_011507836.1:p.Gly381Glu
XR_921781.2:n.2053G>A
NM_170707.4:c.1766G>A MANE Select	NP_733821.1:p.Gly589Glu
NM_001257374.3:c.1430G>A	NP_001244303.1:p.Gly477Glu
NM_001282626.2:c.1766G>A	NP_001269555.1:p.Gly589Glu
NM_170708.4:c.1676G>A	NP_733822.1:p.Gly559Glu