Canonical Allele Identifier: CA342815103

Gene: LMNA

Linked Data

• gnomAD v4: 1-156130642-A-T
• MyVariant Identifiers: chr1:g.156100433A>T (hg19) ; chr1:g.156130642A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156130642A>T , CM000663.2:g.156130642A>T	GRCh38
NC_000001.10:g.156100433A>T , CM000663.1:g.156100433A>T	GRCh37
NC_000001.9:g.154367057A>T	NCBI36
NG_008692.2:g.53070A>T , LRG_254:g.53070A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.-177A>T	ENSP00000426535.3:n.-177A>T
ENST00000682650.1:c.382A>T	ENSP00000506904.1:p.Ile128Leu
ENST00000683032.1:c.382A>T	ENSP00000506771.1:p.Ile128Leu
ENST00000684195.1:c.382A>T	ENSP00000508220.1:p.Ile128Leu
ENST00000361308.9:c.382A>T	ENSP00000355292.6:p.Ile128Leu
ENST00000368300.9:c.382A>T MANE Select	ENSP00000357283.4:p.Ile128Leu
ENST00000496738.6:n.757A>T
ENST00000504687.6:c.-283A>T	ENSP00000426535.2:n.-283A>T
ENST00000674518.1:c.382A>T	ENSP00000502261.1:p.Ile128Leu
ENST00000674600.1:c.*181A>T	ENSP00000501666.1:n.*181A>T
ENST00000674720.1:c.382A>T	ENSP00000502798.1:p.Ile128Leu
ENST00000675431.1:n.75A>T
ENST00000675455.1:c.*182A>T	ENSP00000501795.1:n.*182A>T
ENST00000675667.1:c.382A>T	ENSP00000501803.1:p.Ile128Leu
ENST00000675874.1:c.357-3761A>T	ENSP00000501851.1:n.357-3761A>T
ENST00000675881.1:c.382A>T	ENSP00000501670.1:p.Ile128Leu
ENST00000675939.1:c.382A>T	ENSP00000502256.1:p.Ile128Leu
ENST00000675989.1:n.757A>T
ENST00000676208.1:c.382A>T	ENSP00000502468.1:p.Ile128Leu
ENST00000676283.1:n.757A>T
ENST00000676385.2:c.382A>T	ENSP00000502091.1:p.Ile128Leu
ENST00000676434.1:c.382A>T	ENSP00000501648.1:p.Ile128Leu
ENST00000677389.1:c.382A>T MANE Plus Clinical	ENSP00000503633.1:p.Ile128Leu
ENST00000347559.6:c.382A>T	ENSP00000292304.3:p.Ile128Leu
ENST00000361308.8:c.382A>T	ENSP00000355292.5:p.Ile128Leu
ENST00000368297.5:c.139A>T	ENSP00000357280.1:p.Ile47Leu
ENST00000368299.7:c.382A>T	ENSP00000357282.3:p.Ile128Leu
ENST00000368300.8:c.382A>T	ENSP00000357283.4:p.Ile128Leu
ENST00000368301.6:c.382A>T	ENSP00000357284.2:p.Ile128Leu
ENST00000448611.6:c.46A>T	ENSP00000395597.2:p.Ile16Leu
ENST00000469565.6:n.416A>T
ENST00000470199.2:n.357-33A>T
ENST00000473598.6:c.85A>T	ENSP00000421821.1:p.Ile29Leu
ENST00000502357.5:n.280A>T
ENST00000502751.5:n.354A>T
ENST00000504687.5:c.133A>T	ENSP00000426535.1:p.Ile45Leu
ENST00000515459.5:c.*56A>T	ENSP00000424518.1:n.*56A>T
NM_001257374.2:c.46A>T	NP_001244303.1:p.Ile16Leu
NM_001282624.1:c.139A>T	NP_001269553.1:p.Ile47Leu
NM_001282625.1:c.382A>T	NP_001269554.1:p.Ile128Leu
NM_001282626.1:c.382A>T	NP_001269555.1:p.Ile128Leu
NM_005572.3:c.382A>T , LRG_254t1:c.382A>T	NP_005563.1:p.Ile128Leu
NM_170707.3:c.382A>T	NP_733821.1:p.Ile128Leu
NM_170708.3:c.382A>T	NP_733822.1:p.Ile128Leu
XM_011509533.1:c.46A>T	XP_011507835.1:p.Ile16Leu
XM_011509534.1:c.-283A>T	XP_011507836.1:n.-283A>T
XR_921781.1:n.631A>T
XM_011509534.2:c.-283A>T	XP_011507836.1:n.-283A>T
XR_921781.2:n.629A>T
NM_170707.4:c.382A>T MANE Select	NP_733821.1:p.Ile128Leu
NM_001257374.3:c.46A>T	NP_001244303.1:p.Ile16Leu
NM_001282626.2:c.382A>T	NP_001269555.1:p.Ile128Leu
NM_001282624.2:c.139A>T	NP_001269553.1:p.Ile47Leu
NM_001282625.2:c.382A>T	NP_001269554.1:p.Ile128Leu
NM_005572.4:c.382A>T MANE Plus Clinical	NP_005563.1:p.Ile128Leu
NM_170708.4:c.382A>T	NP_733822.1:p.Ile128Leu