Canonical Allele Identifier: CA342820750

Gene: LMNA

Linked Data

• ClinVar Variation Id: 934438
• ClinVar RCV Id: RCV001202827
• dbSNP Id: rs879253933
• MyVariant Identifiers: chr1:g.156106005G>T (hg19) ; chr1:g.156136214G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156136214G>T , CM000663.2:g.156136214G>T	GRCh38
NC_000001.10:g.156106005G>T , CM000663.1:g.156106005G>T	GRCh37
NC_000001.9:g.154372629G>T	NCBI36
NG_008692.2:g.58642G>T , LRG_254:g.58642G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.600G>T	ENSP00000426535.3:p.Arg200Ser
ENST00000498722.3:n.390G>T
ENST00000682650.1:c.1158G>T	ENSP00000506904.1:p.Arg386Ser
ENST00000683032.1:c.1158G>T	ENSP00000506771.1:p.Arg386Ser
ENST00000684195.1:c.1158G>T	ENSP00000508220.1:p.Arg386Ser
ENST00000361308.9:c.1158G>T	ENSP00000355292.6:p.Arg386Ser
ENST00000368300.9:c.1158G>T MANE Select	ENSP00000357283.4:p.Arg386Ser
ENST00000496738.6:n.1533G>T
ENST00000674518.1:c.*508G>T	ENSP00000502261.1:n.*508G>T
ENST00000674600.1:c.*957G>T	ENSP00000501666.1:n.*957G>T
ENST00000674720.1:c.1158G>T	ENSP00000502798.1:p.Arg386Ser
ENST00000675431.1:n.851G>T
ENST00000675455.1:c.*958G>T	ENSP00000501795.1:n.*958G>T
ENST00000675667.1:c.1158G>T	ENSP00000501803.1:p.Arg386Ser
ENST00000675874.1:c.*629G>T	ENSP00000501851.1:n.*629G>T
ENST00000675881.1:c.*169G>T	ENSP00000501670.1:n.*169G>T
ENST00000675939.1:c.1158G>T	ENSP00000502256.1:p.Arg386Ser
ENST00000675989.1:n.1533G>T
ENST00000676208.1:c.*261G>T	ENSP00000502468.1:n.*261G>T
ENST00000676283.1:n.1533G>T
ENST00000676385.2:c.1158G>T	ENSP00000502091.1:p.Arg386Ser
ENST00000676434.1:c.*169G>T	ENSP00000501648.1:n.*169G>T
ENST00000677389.1:c.1158G>T MANE Plus Clinical	ENSP00000503633.1:p.Arg386Ser
ENST00000347559.6:c.1158G>T	ENSP00000292304.3:p.Arg386Ser
ENST00000361308.8:c.1158G>T	ENSP00000355292.5:p.Arg386Ser
ENST00000368297.5:c.915G>T	ENSP00000357280.1:p.Arg305Ser
ENST00000368298.2:n.422G>T
ENST00000368299.7:c.1158G>T	ENSP00000357282.3:p.Arg386Ser
ENST00000368300.8:c.1158G>T	ENSP00000357283.4:p.Arg386Ser
ENST00000368301.6:c.1158G>T	ENSP00000357284.2:p.Arg386Ser
ENST00000448611.6:c.822G>T	ENSP00000395597.2:p.Arg274Ser
ENST00000473598.6:c.861G>T	ENSP00000421821.1:p.Arg287Ser
ENST00000496738.5:n.543G>T
ENST00000498722.2:n.390G>T
ENST00000508500.1:c.36G>T	ENSP00000424977.1:p.Arg12Ser
NM_001257374.2:c.822G>T	NP_001244303.1:p.Arg274Ser
NM_001282624.1:c.915G>T	NP_001269553.1:p.Arg305Ser
NM_001282625.1:c.1158G>T	NP_001269554.1:p.Arg386Ser
NM_001282626.1:c.1158G>T	NP_001269555.1:p.Arg386Ser
NM_005572.3:c.1158G>T , LRG_254t1:c.1158G>T	NP_005563.1:p.Arg386Ser
NM_170707.3:c.1158G>T	NP_733821.1:p.Arg386Ser
NM_170708.3:c.1158G>T	NP_733822.1:p.Arg386Ser
XM_011509533.1:c.822G>T	XP_011507835.1:p.Arg274Ser
XM_011509534.1:c.534G>T	XP_011507836.1:p.Arg178Ser
XR_921781.1:n.1447G>T
XM_011509534.2:c.534G>T	XP_011507836.1:p.Arg178Ser
XR_921781.2:n.1445G>T
NM_170707.4:c.1158G>T MANE Select	NP_733821.1:p.Arg386Ser
NM_001257374.3:c.822G>T	NP_001244303.1:p.Arg274Ser
NM_001282626.2:c.1158G>T	NP_001269555.1:p.Arg386Ser
NM_001282624.2:c.915G>T	NP_001269553.1:p.Arg305Ser
NM_001282625.2:c.1158G>T	NP_001269554.1:p.Arg386Ser
NM_005572.4:c.1158G>T MANE Plus Clinical	NP_005563.1:p.Arg386Ser
NM_170708.4:c.1158G>T	NP_733822.1:p.Arg386Ser