Canonical Allele Identifier: CA421069073

Gene: LMNA

Linked Data

• ClinVar Variation Id: 928099
• ClinVar RCV Id: RCV001191754 ; RCV002504215
• dbSNP Id: rs1651703234
• gnomAD v4: 1-156137025-G-A
• MyVariant Identifiers: chr1:g.156106816G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156137025G>A , CM000663.2:g.156137025G>A	GRCh38
NC_000001.10:g.156106816G>A , CM000663.1:g.156106816G>A	GRCh37
NC_000001.9:g.154373440G>A	NCBI36
NG_008692.2:g.59453G>A , LRG_254:g.59453G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000504687.7:c.927G>A	ENSP00000426535.3:p.Val309=
ENST00000459904.2:n.733G>A
ENST00000498722.3:n.717G>A
ENST00000682650.1:c.1485G>A	ENSP00000506904.1:p.Val495=
ENST00000683032.1:c.1485G>A	ENSP00000506771.1:p.Val495=
ENST00000684195.1:c.1485G>A	ENSP00000508220.1:p.Val495=
ENST00000361308.9:c.1485G>A	ENSP00000355292.6:p.Val495=
ENST00000368300.9:c.1485G>A MANE Select	ENSP00000357283.4:p.Val495=
ENST00000496738.6:n.1860G>A
ENST00000674518.1:c.*835G>A	ENSP00000502261.1:n.*835G>A
ENST00000674600.1:c.*1284G>A	ENSP00000501666.1:n.*1284G>A
ENST00000674720.1:c.*47G>A	ENSP00000502798.1:n.*47G>A
ENST00000675431.1:n.1178G>A
ENST00000675455.1:c.*1285G>A	ENSP00000501795.1:n.*1285G>A
ENST00000675667.1:c.1485G>A	ENSP00000501803.1:p.Val495=
ENST00000675874.1:c.*956G>A	ENSP00000501851.1:n.*956G>A
ENST00000675881.1:c.*496G>A	ENSP00000501670.1:n.*496G>A
ENST00000675939.1:c.1485G>A	ENSP00000502256.1:p.Val495=
ENST00000675989.1:n.2344G>A
ENST00000676208.1:c.*588G>A	ENSP00000502468.1:n.*588G>A
ENST00000676283.1:n.1860G>A
ENST00000676385.2:c.1485G>A	ENSP00000502091.1:p.Val495=
ENST00000676434.1:c.*496G>A	ENSP00000501648.1:n.*496G>A
ENST00000677389.1:c.1485G>A MANE Plus Clinical	ENSP00000503633.1:p.Val495=
ENST00000347559.6:c.1485G>A	ENSP00000292304.3:p.Val495=
ENST00000361308.8:c.1312-166G>A	ENSP00000355292.5:n.1312-166G>A
ENST00000368297.5:c.1242G>A	ENSP00000357280.1:p.Val414=
ENST00000368298.2:n.1233G>A
ENST00000368299.7:c.1485G>A	ENSP00000357282.3:p.Val495=
ENST00000368300.8:c.1485G>A	ENSP00000357283.4:p.Val495=
ENST00000368301.6:c.1485G>A	ENSP00000357284.2:p.Val495=
ENST00000448611.6:c.1149G>A	ENSP00000395597.2:p.Val383=
ENST00000459904.1:n.733G>A
ENST00000473598.6:c.1188G>A	ENSP00000421821.1:p.Val396=
ENST00000496738.5:n.870G>A
ENST00000498722.2:n.717G>A
ENST00000508500.1:c.363G>A	ENSP00000424977.1:p.Val121=
NM_001257374.2:c.1149G>A	NP_001244303.1:p.Val383=
NM_001282624.1:c.1242G>A	NP_001269553.1:p.Val414=
NM_001282625.1:c.1485G>A	NP_001269554.1:p.Val495=
NM_001282626.1:c.1485G>A	NP_001269555.1:p.Val495=
NM_005572.3:c.1485G>A , LRG_254t1:c.1485G>A	NP_005563.1:p.Val495=
NM_170707.3:c.1485G>A	NP_733821.1:p.Val495=
NM_170708.3:c.1485G>A	NP_733822.1:p.Val495=
XM_011509533.1:c.1149G>A	XP_011507835.1:p.Val383=
XM_011509534.1:c.861G>A	XP_011507836.1:p.Val287=
XR_921781.1:n.1774G>A
XM_011509534.2:c.861G>A	XP_011507836.1:p.Val287=
XR_921781.2:n.1772G>A
NM_170707.4:c.1485G>A MANE Select	NP_733821.1:p.Val495=
NM_001257374.3:c.1149G>A	NP_001244303.1:p.Val383=
NM_001282626.2:c.1485G>A	NP_001269555.1:p.Val495=
NM_001282624.2:c.1242G>A	NP_001269553.1:p.Val414=
NM_001282625.2:c.1485G>A	NP_001269554.1:p.Val495=
NM_005572.4:c.1485G>A MANE Plus Clinical	NP_005563.1:p.Val495=
NM_170708.4:c.1485G>A	NP_733822.1:p.Val495=