Canonical Allele Identifier: CA342817408

Gene: LMNA

Linked Data

• ClinVar Variation Id: 518473
• ClinVar RCV Id: RCV000622065 ; RCV001301578 ; RCV001181566 ; RCV003133403 ; RCV002476374
• dbSNP Id: rs750246389
• gnomAD v2: 1-156104743-C-A
• gnomAD v4: 1-156134952-C-A
• MyVariant Identifiers: chr1:g.156104743C>A (hg19) ; chr1:g.156134952C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156134952C>A , CM000663.2:g.156134952C>A	GRCh38
NC_000001.10:g.156104743C>A , CM000663.1:g.156104743C>A	GRCh37
NC_000001.9:g.154371367C>A	NCBI36
NG_008692.2:g.57380C>A , LRG_254:g.57380C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.229C>A	ENSP00000426535.3:p.Leu77Met
ENST00000682650.1:c.787C>A	ENSP00000506904.1:p.Leu263Met
ENST00000683032.1:c.787C>A	ENSP00000506771.1:p.Leu263Met
ENST00000684195.1:c.787C>A	ENSP00000508220.1:p.Leu263Met
ENST00000361308.9:c.787C>A	ENSP00000355292.6:p.Leu263Met
ENST00000368300.9:c.787C>A MANE Select	ENSP00000357283.4:p.Leu263Met
ENST00000496738.6:n.1162C>A
ENST00000504687.6:c.123C>A	ENSP00000426535.2:p.Ser41Arg
ENST00000674518.1:c.*137C>A	ENSP00000502261.1:n.*137C>A
ENST00000674600.1:c.*586C>A	ENSP00000501666.1:n.*586C>A
ENST00000674720.1:c.787C>A	ENSP00000502798.1:p.Leu263Met
ENST00000675431.1:n.480C>A
ENST00000675455.1:c.*587C>A	ENSP00000501795.1:n.*587C>A
ENST00000675667.1:c.787C>A	ENSP00000501803.1:p.Leu263Met
ENST00000675874.1:c.*258C>A	ENSP00000501851.1:n.*258C>A
ENST00000675881.1:c.787C>A	ENSP00000501670.1:p.Leu263Met
ENST00000675939.1:c.787C>A	ENSP00000502256.1:p.Leu263Met
ENST00000675989.1:n.1162C>A
ENST00000676208.1:c.787C>A	ENSP00000502468.1:p.Leu263Met
ENST00000676283.1:n.1162C>A
ENST00000676385.2:c.787C>A	ENSP00000502091.1:p.Leu263Met
ENST00000676434.1:c.787C>A	ENSP00000501648.1:p.Leu263Met
ENST00000677389.1:c.787C>A MANE Plus Clinical	ENSP00000503633.1:p.Leu263Met
ENST00000347559.6:c.787C>A	ENSP00000292304.3:p.Leu263Met
ENST00000361308.8:c.787C>A	ENSP00000355292.5:p.Leu263Met
ENST00000368297.5:c.544C>A	ENSP00000357280.1:p.Leu182Met
ENST00000368299.7:c.787C>A	ENSP00000357282.3:p.Leu263Met
ENST00000368300.8:c.787C>A	ENSP00000357283.4:p.Leu263Met
ENST00000368301.6:c.787C>A	ENSP00000357284.2:p.Leu263Met
ENST00000448611.6:c.451C>A	ENSP00000395597.2:p.Leu151Met
ENST00000473598.6:c.490C>A	ENSP00000421821.1:p.Leu164Met
ENST00000496738.5:n.132C>A
ENST00000504687.5:c.538C>A	ENSP00000426535.1:p.Leu180Met
ENST00000515459.5:c.*461C>A	ENSP00000424518.1:n.*461C>A
ENST00000515824.1:n.148C>A
NM_001257374.2:c.451C>A	NP_001244303.1:p.Leu151Met
NM_001282624.1:c.544C>A	NP_001269553.1:p.Leu182Met
NM_001282625.1:c.787C>A	NP_001269554.1:p.Leu263Met
NM_001282626.1:c.787C>A	NP_001269555.1:p.Leu263Met
NM_005572.3:c.787C>A , LRG_254t1:c.787C>A	NP_005563.1:p.Leu263Met
NM_170707.3:c.787C>A	NP_733821.1:p.Leu263Met
NM_170708.3:c.787C>A	NP_733822.1:p.Leu263Met
XM_011509533.1:c.451C>A	XP_011507835.1:p.Leu151Met
XM_011509534.1:c.123C>A	XP_011507836.1:p.Ser41Arg
XR_921781.1:n.1036C>A
XM_011509534.2:c.123C>A	XP_011507836.1:p.Ser41Arg
XR_921781.2:n.1034C>A
NM_170707.4:c.787C>A MANE Select	NP_733821.1:p.Leu263Met
NM_001257374.3:c.451C>A	NP_001244303.1:p.Leu151Met
NM_001282626.2:c.787C>A	NP_001269555.1:p.Leu263Met
NM_001282624.2:c.544C>A	NP_001269553.1:p.Leu182Met
NM_001282625.2:c.787C>A	NP_001269554.1:p.Leu263Met
NM_005572.4:c.787C>A MANE Plus Clinical	NP_005563.1:p.Leu263Met
NM_170708.4:c.787C>A	NP_733822.1:p.Leu263Met