Canonical Allele Identifier: CA10584120

Gene: LMNA

Linked Data

• ClinVar Variation Id: 245721
• ClinVar RCV Id: RCV000235237 ; RCV001379216 ; RCV004020919
• dbSNP Id: rs397517904
• MyVariant Identifiers: chr1:g.156100565G>A (hg19) ; chr1:g.156130774G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156130774G>A , CM000663.2:g.156130774G>A	GRCh38
NC_000001.10:g.156100565G>A , CM000663.1:g.156100565G>A	GRCh37
NC_000001.9:g.154367189G>A	NCBI36
NG_008692.2:g.53202G>A , LRG_254:g.53202G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.-46+1G>A	ENSP00000426535.3:n.-46+1G>A
ENST00000682650.1:c.513+1G>A	ENSP00000506904.1:n.513+1G>A
ENST00000683032.1:c.513+1G>A	ENSP00000506771.1:n.513+1G>A
ENST00000684195.1:c.513+1G>A	ENSP00000508220.1:n.513+1G>A
ENST00000361308.9:c.513+1G>A	ENSP00000355292.6:n.513+1G>A
ENST00000368300.9:c.513+1G>A MANE Select	ENSP00000357283.4:n.513+1G>A
ENST00000496738.6:n.888+1G>A
ENST00000504687.6:c.-152+1G>A	ENSP00000426535.2:n.-152+1G>A
ENST00000674518.1:c.513+1G>A	ENSP00000502261.1:n.513+1G>A
ENST00000674600.1:c.*312+1G>A	ENSP00000501666.1:n.*312+1G>A
ENST00000674720.1:c.513+1G>A	ENSP00000502798.1:n.513+1G>A
ENST00000675431.1:n.206+1G>A
ENST00000675455.1:c.*313+1G>A	ENSP00000501795.1:n.*313+1G>A
ENST00000675667.1:c.513+1G>A	ENSP00000501803.1:n.513+1G>A
ENST00000675874.1:c.357-3629G>A	ENSP00000501851.1:n.357-3629G>A
ENST00000675881.1:c.513+1G>A	ENSP00000501670.1:n.513+1G>A
ENST00000675939.1:c.513+1G>A	ENSP00000502256.1:n.513+1G>A
ENST00000675989.1:n.888+1G>A
ENST00000676208.1:c.513+1G>A	ENSP00000502468.1:n.513+1G>A
ENST00000676283.1:n.888+1G>A
ENST00000676385.2:c.513+1G>A	ENSP00000502091.1:n.513+1G>A
ENST00000676434.1:c.513+1G>A	ENSP00000501648.1:n.513+1G>A
ENST00000677389.1:c.513+1G>A MANE Plus Clinical	ENSP00000503633.1:n.513+1G>A
ENST00000347559.6:c.513+1G>A	ENSP00000292304.3:n.513+1G>A
ENST00000361308.8:c.513+1G>A	ENSP00000355292.5:n.513+1G>A
ENST00000368297.5:c.270+1G>A	ENSP00000357280.1:n.270+1G>A
ENST00000368299.7:c.513+1G>A	ENSP00000357282.3:n.513+1G>A
ENST00000368300.8:c.513+1G>A	ENSP00000357283.4:n.513+1G>A
ENST00000368301.6:c.513+1G>A	ENSP00000357284.2:n.513+1G>A
ENST00000448611.6:c.177+1G>A	ENSP00000395597.2:n.177+1G>A
ENST00000469565.6:n.547+1G>A
ENST00000470199.2:n.455+1G>A
ENST00000473598.6:c.216+1G>A	ENSP00000421821.1:n.216+1G>A
ENST00000502357.5:n.411+1G>A
ENST00000502751.5:n.485+1G>A
ENST00000504687.5:c.264+1G>A	ENSP00000426535.1:n.264+1G>A
ENST00000515459.5:c.*187+1G>A	ENSP00000424518.1:n.*187+1G>A
NM_001257374.2:c.177+1G>A	NP_001244303.1:n.177+1G>A
NM_001282624.1:c.270+1G>A	NP_001269553.1:n.270+1G>A
NM_001282625.1:c.513+1G>A	NP_001269554.1:n.513+1G>A
NM_001282626.1:c.513+1G>A	NP_001269555.1:n.513+1G>A
NM_005572.3:c.513+1G>A , LRG_254t1:c.513+1G>A	NP_005563.1:n.513+1G>A
NM_170707.3:c.513+1G>A	NP_733821.1:n.513+1G>A
NM_170708.3:c.513+1G>A	NP_733822.1:n.513+1G>A
XM_011509533.1:c.177+1G>A	XP_011507835.1:n.177+1G>A
XM_011509534.1:c.-152+1G>A	XP_011507836.1:n.-152+1G>A
XR_921781.1:n.762+1G>A
XM_011509534.2:c.-152+1G>A	XP_011507836.1:n.-152+1G>A
XR_921781.2:n.760+1G>A
NM_170707.4:c.513+1G>A MANE Select	NP_733821.1:n.513+1G>A
NM_001257374.3:c.177+1G>A	NP_001244303.1:n.177+1G>A
NM_001282626.2:c.513+1G>A	NP_001269555.1:n.513+1G>A
NM_001282624.2:c.270+1G>A	NP_001269553.1:n.270+1G>A
NM_001282625.2:c.513+1G>A	NP_001269554.1:n.513+1G>A
NM_005572.4:c.513+1G>A MANE Plus Clinical	NP_005563.1:n.513+1G>A
NM_170708.4:c.513+1G>A	NP_733822.1:n.513+1G>A