Canonical Allele Identifier: CA342817279

Gene: LMNA

Linked Data

• ClinVar Variation Id: 634638
• ClinVar RCV Id: RCV000785172
• dbSNP Id: rs1165819867
• MyVariant Identifiers: chr1:g.156104683G>T (hg19) ; chr1:g.156134892G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156134892G>T , CM000663.2:g.156134892G>T	GRCh38
NC_000001.10:g.156104683G>T , CM000663.1:g.156104683G>T	GRCh37
NC_000001.9:g.154371307G>T	NCBI36
NG_008692.2:g.57320G>T , LRG_254:g.57320G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.169G>T	ENSP00000426535.3:p.Asp57Tyr
ENST00000682650.1:c.727G>T	ENSP00000506904.1:p.Asp243Tyr
ENST00000683032.1:c.727G>T	ENSP00000506771.1:p.Asp243Tyr
ENST00000684195.1:c.727G>T	ENSP00000508220.1:p.Asp243Tyr
ENST00000361308.9:c.727G>T	ENSP00000355292.6:p.Asp243Tyr
ENST00000368300.9:c.727G>T MANE Select	ENSP00000357283.4:p.Asp243Tyr
ENST00000496738.6:n.1102G>T
ENST00000504687.6:c.63G>T	ENSP00000426535.2:p.Arg21=
ENST00000674518.1:c.*77G>T	ENSP00000502261.1:n.*77G>T
ENST00000674600.1:c.*526G>T	ENSP00000501666.1:n.*526G>T
ENST00000674720.1:c.727G>T	ENSP00000502798.1:p.Asp243Tyr
ENST00000675431.1:n.420G>T
ENST00000675455.1:c.*527G>T	ENSP00000501795.1:n.*527G>T
ENST00000675667.1:c.727G>T	ENSP00000501803.1:p.Asp243Tyr
ENST00000675874.1:c.*198G>T	ENSP00000501851.1:n.*198G>T
ENST00000675881.1:c.727G>T	ENSP00000501670.1:p.Asp243Tyr
ENST00000675939.1:c.727G>T	ENSP00000502256.1:p.Asp243Tyr
ENST00000675989.1:n.1102G>T
ENST00000676208.1:c.727G>T	ENSP00000502468.1:p.Asp243Tyr
ENST00000676283.1:n.1102G>T
ENST00000676385.2:c.727G>T	ENSP00000502091.1:p.Asp243Tyr
ENST00000676434.1:c.727G>T	ENSP00000501648.1:p.Asp243Tyr
ENST00000677389.1:c.727G>T MANE Plus Clinical	ENSP00000503633.1:p.Asp243Tyr
ENST00000347559.6:c.727G>T	ENSP00000292304.3:p.Asp243Tyr
ENST00000361308.8:c.727G>T	ENSP00000355292.5:p.Asp243Tyr
ENST00000368297.5:c.484G>T	ENSP00000357280.1:p.Asp162Tyr
ENST00000368299.7:c.727G>T	ENSP00000357282.3:p.Asp243Tyr
ENST00000368300.8:c.727G>T	ENSP00000357283.4:p.Asp243Tyr
ENST00000368301.6:c.727G>T	ENSP00000357284.2:p.Asp243Tyr
ENST00000448611.6:c.391G>T	ENSP00000395597.2:p.Asp131Tyr
ENST00000473598.6:c.430G>T	ENSP00000421821.1:p.Asp144Tyr
ENST00000496738.5:n.72G>T
ENST00000504687.5:c.478G>T	ENSP00000426535.1:p.Asp160Tyr
ENST00000515459.5:c.*401G>T	ENSP00000424518.1:n.*401G>T
ENST00000515824.1:n.88G>T
NM_001257374.2:c.391G>T	NP_001244303.1:p.Asp131Tyr
NM_001282624.1:c.484G>T	NP_001269553.1:p.Asp162Tyr
NM_001282625.1:c.727G>T	NP_001269554.1:p.Asp243Tyr
NM_001282626.1:c.727G>T	NP_001269555.1:p.Asp243Tyr
NM_005572.3:c.727G>T , LRG_254t1:c.727G>T	NP_005563.1:p.Asp243Tyr
NM_170707.3:c.727G>T	NP_733821.1:p.Asp243Tyr
NM_170708.3:c.727G>T	NP_733822.1:p.Asp243Tyr
XM_011509533.1:c.391G>T	XP_011507835.1:p.Asp131Tyr
XM_011509534.1:c.63G>T	XP_011507836.1:p.Arg21=
XR_921781.1:n.976G>T
XM_011509534.2:c.63G>T	XP_011507836.1:p.Arg21=
XR_921781.2:n.974G>T
NM_170707.4:c.727G>T MANE Select	NP_733821.1:p.Asp243Tyr
NM_001257374.3:c.391G>T	NP_001244303.1:p.Asp131Tyr
NM_001282626.2:c.727G>T	NP_001269555.1:p.Asp243Tyr
NM_001282624.2:c.484G>T	NP_001269553.1:p.Asp162Tyr
NM_001282625.2:c.727G>T	NP_001269554.1:p.Asp243Tyr
NM_005572.4:c.727G>T MANE Plus Clinical	NP_005563.1:p.Asp243Tyr
NM_170708.4:c.727G>T	NP_733822.1:p.Asp243Tyr