Canonical Allele Identifier: CA342826551

Gene: LMNA

Linked Data

• ClinVar Variation Id: 521983
• ClinVar RCV Id: RCV001524890 ; RCV002506519 ; RCV002533137 ; RCV002404709
• dbSNP Id: rs57830985
• gnomAD v4: 1-156138534-G-T
• MyVariant Identifiers: chr1:g.156108325G>T (hg19) ; chr1:g.156138534G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156138534G>T , CM000663.2:g.156138534G>T	GRCh38
NC_000001.10:g.156108325G>T , CM000663.1:g.156108325G>T	GRCh37
NC_000001.9:g.154374949G>T	NCBI36
NG_008692.2:g.60962G>T , LRG_254:g.60962G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.1187G>T	ENSP00000426535.3:p.Arg396Leu
ENST00000682650.1:c.1655G>T	ENSP00000506904.1:p.Arg552Leu
ENST00000683032.1:c.1745G>T	ENSP00000506771.1:p.Arg582Leu
ENST00000683773.1:n.90G>T
ENST00000684195.1:c.*837G>T	ENSP00000508220.1:n.*837G>T
ENST00000361308.9:c.1745G>T	ENSP00000355292.6:p.Arg582Leu
ENST00000368300.9:c.1745G>T MANE Select	ENSP00000357283.4:p.Arg582Leu
ENST00000496738.6:n.2948G>T
ENST00000674518.1:c.*1095G>T	ENSP00000502261.1:n.*1095G>T
ENST00000674600.1:c.*1544G>T	ENSP00000501666.1:n.*1544G>T
ENST00000674720.1:c.*1051G>T	ENSP00000502798.1:n.*1051G>T
ENST00000675455.1:c.*1545G>T	ENSP00000501795.1:n.*1545G>T
ENST00000675667.1:c.1745G>T	ENSP00000501803.1:p.Arg582Leu
ENST00000675874.1:c.*1216G>T	ENSP00000501851.1:n.*1216G>T
ENST00000675881.1:c.*756G>T	ENSP00000501670.1:n.*756G>T
ENST00000675939.1:c.1745G>T	ENSP00000502256.1:p.Arg582Leu
ENST00000675989.1:n.3348G>T
ENST00000676208.1:c.*848G>T	ENSP00000502468.1:n.*848G>T
ENST00000676283.1:n.3285G>T
ENST00000676385.2:c.1655G>T	ENSP00000502091.1:p.Arg552Leu
ENST00000676434.1:c.*1500G>T	ENSP00000501648.1:n.*1500G>T
ENST00000347559.6:c.1655G>T	ENSP00000292304.3:p.Arg552Leu
ENST00000368299.7:c.1745G>T	ENSP00000357282.3:p.Arg582Leu
ENST00000368300.8:c.1745G>T	ENSP00000357283.4:p.Arg582Leu
ENST00000448611.6:c.1409G>T	ENSP00000395597.2:p.Arg470Leu
ENST00000473598.6:c.1448G>T	ENSP00000421821.1:p.Arg483Leu
ENST00000496738.5:n.1958G>T
ENST00000506981.1:n.329G>T
ENST00000508500.1:c.533G>T	ENSP00000424977.1:p.Arg178Leu
NM_001257374.2:c.1409G>T	NP_001244303.1:p.Arg470Leu
NM_001282626.1:c.1745G>T	NP_001269555.1:p.Arg582Leu
NM_170707.3:c.1745G>T	NP_733821.1:p.Arg582Leu
NM_170708.3:c.1655G>T	NP_733822.1:p.Arg552Leu
XM_011509533.1:c.1409G>T	XP_011507835.1:p.Arg470Leu
XM_011509534.1:c.1121G>T	XP_011507836.1:p.Arg374Leu
XR_921781.1:n.2034G>T
XM_011509534.2:c.1121G>T	XP_011507836.1:p.Arg374Leu
XR_921781.2:n.2032G>T
NM_170707.4:c.1745G>T MANE Select	NP_733821.1:p.Arg582Leu
NM_001257374.3:c.1409G>T	NP_001244303.1:p.Arg470Leu
NM_001282626.2:c.1745G>T	NP_001269555.1:p.Arg582Leu
NM_170708.4:c.1655G>T	NP_733822.1:p.Arg552Leu