Canonical Allele Identifier: CA342825445

Gene: LMNA

Linked Data

• ClinVar Variation Id: 2918920
• ClinVar RCV Id: RCV003745276
• gnomAD v4: 1-156137679-G-T
• MyVariant Identifiers: chr1:g.156107470G>T (hg19) ; chr1:g.156137679G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156137679G>T , CM000663.2:g.156137679G>T	GRCh38
NC_000001.10:g.156107470G>T , CM000663.1:g.156107470G>T	GRCh37
NC_000001.9:g.154374094G>T	NCBI36
NG_008692.2:g.60107G>T , LRG_254:g.60107G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.1076G>T	ENSP00000426535.3:p.Arg359Leu
ENST00000498722.3:n.866G>T
ENST00000682650.1:c.1608+447G>T	ENSP00000506904.1:n.1608+447G>T
ENST00000683032.1:c.1634G>T	ENSP00000506771.1:p.Arg545Leu
ENST00000684195.1:c.1605G>T	ENSP00000508220.1:p.Ala535=
ENST00000361308.9:c.1634G>T	ENSP00000355292.6:p.Arg545Leu
ENST00000368300.9:c.1634G>T MANE Select	ENSP00000357283.4:p.Arg545Leu
ENST00000496738.6:n.2093G>T
ENST00000674518.1:c.*984G>T	ENSP00000502261.1:n.*984G>T
ENST00000674600.1:c.*1433G>T	ENSP00000501666.1:n.*1433G>T
ENST00000674720.1:c.*196G>T	ENSP00000502798.1:n.*196G>T
ENST00000675431.1:n.1327G>T
ENST00000675455.1:c.*1434G>T	ENSP00000501795.1:n.*1434G>T
ENST00000675667.1:c.1634G>T	ENSP00000501803.1:p.Arg545Leu
ENST00000675874.1:c.*1105G>T	ENSP00000501851.1:n.*1105G>T
ENST00000675881.1:c.*645G>T	ENSP00000501670.1:n.*645G>T
ENST00000675939.1:c.1634G>T	ENSP00000502256.1:p.Arg545Leu
ENST00000675989.1:n.2493G>T
ENST00000676208.1:c.*737G>T	ENSP00000502468.1:n.*737G>T
ENST00000676283.1:n.2430G>T
ENST00000676385.2:c.1608+447G>T	ENSP00000502091.1:n.1608+447G>T
ENST00000676434.1:c.*645G>T	ENSP00000501648.1:n.*645G>T
ENST00000677389.1:c.1634G>T MANE Plus Clinical	ENSP00000503633.1:p.Arg545Leu
ENST00000347559.6:c.1608+447G>T	ENSP00000292304.3:n.1608+447G>T
ENST00000361308.8:c.1379G>T	ENSP00000355292.5:p.Arg460Leu
ENST00000368297.5:c.1391G>T	ENSP00000357280.1:p.Arg464Leu
ENST00000368299.7:c.1634G>T	ENSP00000357282.3:p.Arg545Leu
ENST00000368300.8:c.1634G>T	ENSP00000357283.4:p.Arg545Leu
ENST00000368301.6:c.1634G>T	ENSP00000357284.2:p.Arg545Leu
ENST00000448611.6:c.1298G>T	ENSP00000395597.2:p.Arg433Leu
ENST00000473598.6:c.1337G>T	ENSP00000421821.1:p.Arg446Leu
ENST00000496738.5:n.1103G>T
ENST00000498722.2:n.866G>T
ENST00000506981.1:n.218G>T
ENST00000508500.1:c.486+447G>T	ENSP00000424977.1:n.486+447G>T
NM_001257374.2:c.1298G>T	NP_001244303.1:p.Arg433Leu
NM_001282624.1:c.1391G>T	NP_001269553.1:p.Arg464Leu
NM_001282625.1:c.1634G>T	NP_001269554.1:p.Arg545Leu
NM_001282626.1:c.1634G>T	NP_001269555.1:p.Arg545Leu
NM_005572.3:c.1634G>T , LRG_254t1:c.1634G>T	NP_005563.1:p.Arg545Leu
NM_170707.3:c.1634G>T	NP_733821.1:p.Arg545Leu
NM_170708.3:c.1608+447G>T	NP_733822.1:n.1608+447G>T
XM_011509533.1:c.1298G>T	XP_011507835.1:p.Arg433Leu
XM_011509534.1:c.1010G>T	XP_011507836.1:p.Arg337Leu
XR_921781.1:n.1923G>T
XM_011509534.2:c.1010G>T	XP_011507836.1:p.Arg337Leu
XR_921781.2:n.1921G>T
NM_170707.4:c.1634G>T MANE Select	NP_733821.1:p.Arg545Leu
NM_001257374.3:c.1298G>T	NP_001244303.1:p.Arg433Leu
NM_001282626.2:c.1634G>T	NP_001269555.1:p.Arg545Leu
NM_001282624.2:c.1391G>T	NP_001269553.1:p.Arg464Leu
NM_001282625.2:c.1634G>T	NP_001269554.1:p.Arg545Leu
NM_005572.4:c.1634G>T MANE Plus Clinical	NP_005563.1:p.Arg545Leu
NM_170708.4:c.1608+447G>T	NP_733822.1:n.1608+447G>T