Canonical Allele Identifier: CA10603912

Gene: LMNA

Linked Data

• ClinVar Variation Id: 281553
• ClinVar RCV Id: RCV000364250 ; RCV001044757
• dbSNP Id: rs60695352
• COSMIC: COSM6246694
• MyVariant Identifiers: chr1:g.156084858G>T (hg19) ; chr1:g.156115067G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156115067G>T , CM000663.2:g.156115067G>T	GRCh38
NC_000001.10:g.156084858G>T , CM000663.1:g.156084858G>T	GRCh37
NC_000001.9:g.154351482G>T	NCBI36
NG_008692.2:g.37495G>T , LRG_254:g.37495G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682650.1:c.149G>T	ENSP00000506904.1:p.Arg50Leu
ENST00000683032.1:c.149G>T	ENSP00000506771.1:p.Arg50Leu
ENST00000684195.1:c.149G>T	ENSP00000508220.1:p.Arg50Leu
ENST00000361308.9:c.149G>T	ENSP00000355292.6:p.Arg50Leu
ENST00000368300.9:c.149G>T MANE Select	ENSP00000357283.4:p.Arg50Leu
ENST00000496738.6:n.524G>T
ENST00000674518.1:c.149G>T	ENSP00000502261.1:p.Arg50Leu
ENST00000674600.1:c.149G>T	ENSP00000501666.1:p.Arg50Leu
ENST00000674720.1:c.149G>T	ENSP00000502798.1:p.Arg50Leu
ENST00000675455.1:c.84-24G>T	ENSP00000501795.1:n.84-24G>T
ENST00000675667.1:c.149G>T	ENSP00000501803.1:p.Arg50Leu
ENST00000675874.1:c.149G>T	ENSP00000501851.1:p.Arg50Leu
ENST00000675881.1:c.149G>T	ENSP00000501670.1:p.Arg50Leu
ENST00000675939.1:c.149G>T	ENSP00000502256.1:p.Arg50Leu
ENST00000675989.1:n.524G>T
ENST00000676208.1:c.149G>T	ENSP00000502468.1:p.Arg50Leu
ENST00000676283.1:n.524G>T
ENST00000676385.2:c.149G>T	ENSP00000502091.1:p.Arg50Leu
ENST00000676434.1:c.149G>T	ENSP00000501648.1:p.Arg50Leu
ENST00000677389.1:c.149G>T MANE Plus Clinical	ENSP00000503633.1:p.Arg50Leu
ENST00000347559.6:c.149G>T	ENSP00000292304.3:p.Arg50Leu
ENST00000361308.8:c.149G>T	ENSP00000355292.5:p.Arg50Leu
ENST00000368299.7:c.149G>T	ENSP00000357282.3:p.Arg50Leu
ENST00000368300.8:c.149G>T	ENSP00000357283.4:p.Arg50Leu
ENST00000368301.6:c.149G>T	ENSP00000357284.2:p.Arg50Leu
ENST00000469565.6:n.183G>T
ENST00000470199.2:n.356+1G>T
ENST00000502751.5:n.329-15550G>T
NM_001282625.1:c.149G>T	NP_001269554.1:p.Arg50Leu
NM_001282626.1:c.149G>T	NP_001269555.1:p.Arg50Leu
NM_005572.3:c.149G>T , LRG_254t1:c.149G>T	NP_005563.1:p.Arg50Leu
NM_170707.3:c.149G>T	NP_733821.1:p.Arg50Leu
NM_170708.3:c.149G>T	NP_733822.1:p.Arg50Leu
XR_921781.1:n.398G>T
XR_921781.2:n.396G>T
NM_170707.4:c.149G>T MANE Select	NP_733821.1:p.Arg50Leu
NM_001282626.2:c.149G>T	NP_001269555.1:p.Arg50Leu
NM_001282625.2:c.149G>T	NP_001269554.1:p.Arg50Leu
NM_005572.4:c.149G>T MANE Plus Clinical	NP_005563.1:p.Arg50Leu
NM_170708.4:c.149G>T	NP_733822.1:p.Arg50Leu