Canonical Allele Identifier: CA342820910

Gene: LMNA

Linked Data

• ClinVar Variation Id: 2773542
• ClinVar RCV Id: RCV003532559
• gnomAD v4: 1-156136236-A-T
• MyVariant Identifiers: chr1:g.156106027A>T (hg19) ; chr1:g.156136236A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156136236A>T , CM000663.2:g.156136236A>T	GRCh38
NC_000001.10:g.156106027A>T , CM000663.1:g.156106027A>T	GRCh37
NC_000001.9:g.154372651A>T	NCBI36
NG_008692.2:g.58664A>T , LRG_254:g.58664A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.622A>T	ENSP00000426535.3:p.Thr208Ser
ENST00000498722.3:n.412A>T
ENST00000682650.1:c.1180A>T	ENSP00000506904.1:p.Thr394Ser
ENST00000683032.1:c.1180A>T	ENSP00000506771.1:p.Thr394Ser
ENST00000684195.1:c.1180A>T	ENSP00000508220.1:p.Thr394Ser
ENST00000361308.9:c.1180A>T	ENSP00000355292.6:p.Thr394Ser
ENST00000368300.9:c.1180A>T MANE Select	ENSP00000357283.4:p.Thr394Ser
ENST00000496738.6:n.1555A>T
ENST00000674518.1:c.*530A>T	ENSP00000502261.1:n.*530A>T
ENST00000674600.1:c.*979A>T	ENSP00000501666.1:n.*979A>T
ENST00000674720.1:c.1180A>T	ENSP00000502798.1:p.Thr394Ser
ENST00000675431.1:n.873A>T
ENST00000675455.1:c.*980A>T	ENSP00000501795.1:n.*980A>T
ENST00000675667.1:c.1180A>T	ENSP00000501803.1:p.Thr394Ser
ENST00000675874.1:c.*651A>T	ENSP00000501851.1:n.*651A>T
ENST00000675881.1:c.*191A>T	ENSP00000501670.1:n.*191A>T
ENST00000675939.1:c.1180A>T	ENSP00000502256.1:p.Thr394Ser
ENST00000675989.1:n.1555A>T
ENST00000676208.1:c.*283A>T	ENSP00000502468.1:n.*283A>T
ENST00000676283.1:n.1555A>T
ENST00000676385.2:c.1180A>T	ENSP00000502091.1:p.Thr394Ser
ENST00000676434.1:c.*191A>T	ENSP00000501648.1:n.*191A>T
ENST00000677389.1:c.1180A>T MANE Plus Clinical	ENSP00000503633.1:p.Thr394Ser
ENST00000347559.6:c.1180A>T	ENSP00000292304.3:p.Thr394Ser
ENST00000361308.8:c.1180A>T	ENSP00000355292.5:p.Thr394Ser
ENST00000368297.5:c.937A>T	ENSP00000357280.1:p.Thr313Ser
ENST00000368298.2:n.444A>T
ENST00000368299.7:c.1180A>T	ENSP00000357282.3:p.Thr394Ser
ENST00000368300.8:c.1180A>T	ENSP00000357283.4:p.Thr394Ser
ENST00000368301.6:c.1180A>T	ENSP00000357284.2:p.Thr394Ser
ENST00000448611.6:c.844A>T	ENSP00000395597.2:p.Thr282Ser
ENST00000473598.6:c.883A>T	ENSP00000421821.1:p.Thr295Ser
ENST00000496738.5:n.565A>T
ENST00000498722.2:n.412A>T
ENST00000508500.1:c.58A>T	ENSP00000424977.1:p.Thr20Ser
NM_001257374.2:c.844A>T	NP_001244303.1:p.Thr282Ser
NM_001282624.1:c.937A>T	NP_001269553.1:p.Thr313Ser
NM_001282625.1:c.1180A>T	NP_001269554.1:p.Thr394Ser
NM_001282626.1:c.1180A>T	NP_001269555.1:p.Thr394Ser
NM_005572.3:c.1180A>T , LRG_254t1:c.1180A>T	NP_005563.1:p.Thr394Ser
NM_170707.3:c.1180A>T	NP_733821.1:p.Thr394Ser
NM_170708.3:c.1180A>T	NP_733822.1:p.Thr394Ser
XM_011509533.1:c.844A>T	XP_011507835.1:p.Thr282Ser
XM_011509534.1:c.556A>T	XP_011507836.1:p.Thr186Ser
XR_921781.1:n.1469A>T
XM_011509534.2:c.556A>T	XP_011507836.1:p.Thr186Ser
XR_921781.2:n.1467A>T
NM_170707.4:c.1180A>T MANE Select	NP_733821.1:p.Thr394Ser
NM_001257374.3:c.844A>T	NP_001244303.1:p.Thr282Ser
NM_001282626.2:c.1180A>T	NP_001269555.1:p.Thr394Ser
NM_001282624.2:c.937A>T	NP_001269553.1:p.Thr313Ser
NM_001282625.2:c.1180A>T	NP_001269554.1:p.Thr394Ser
NM_005572.4:c.1180A>T MANE Plus Clinical	NP_005563.1:p.Thr394Ser
NM_170708.4:c.1180A>T	NP_733822.1:p.Thr394Ser