Canonical Allele Identifier: CA018465

Gene: LMNA

Linked Data

• ClinVar Variation Id: 66924
• ClinVar RCV Id: RCV000057444 ; RCV001038356 ; RCV001535783
• dbSNP Id: rs267607609
• MyVariant Identifiers: chr1:g.156104650G>C (hg19) ; chr1:g.156134859G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156134859G>C , CM000663.2:g.156134859G>C	GRCh38
NC_000001.10:g.156104650G>C , CM000663.1:g.156104650G>C	GRCh37
NC_000001.9:g.154371274G>C	NCBI36
NG_008692.2:g.57287G>C , LRG_254:g.57287G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.136G>C	ENSP00000426535.3:p.Gly46Arg
ENST00000682650.1:c.694G>C	ENSP00000506904.1:p.Gly232Arg
ENST00000683032.1:c.694G>C	ENSP00000506771.1:p.Gly232Arg
ENST00000684195.1:c.694G>C	ENSP00000508220.1:p.Gly232Arg
ENST00000361308.9:c.694G>C	ENSP00000355292.6:p.Gly232Arg
ENST00000368300.9:c.694G>C MANE Select	ENSP00000357283.4:p.Gly232Arg
ENST00000496738.6:n.1069G>C
ENST00000504687.6:c.30G>C	ENSP00000426535.2:p.Met10Ile
ENST00000674518.1:c.*44G>C	ENSP00000502261.1:n.*44G>C
ENST00000674600.1:c.*493G>C	ENSP00000501666.1:n.*493G>C
ENST00000674720.1:c.694G>C	ENSP00000502798.1:p.Gly232Arg
ENST00000675431.1:n.387G>C
ENST00000675455.1:c.*494G>C	ENSP00000501795.1:n.*494G>C
ENST00000675667.1:c.694G>C	ENSP00000501803.1:p.Gly232Arg
ENST00000675874.1:c.*165G>C	ENSP00000501851.1:n.*165G>C
ENST00000675881.1:c.694G>C	ENSP00000501670.1:p.Gly232Arg
ENST00000675939.1:c.694G>C	ENSP00000502256.1:p.Gly232Arg
ENST00000675989.1:n.1069G>C
ENST00000676208.1:c.694G>C	ENSP00000502468.1:p.Gly232Arg
ENST00000676283.1:n.1069G>C
ENST00000676385.2:c.694G>C	ENSP00000502091.1:p.Gly232Arg
ENST00000676434.1:c.694G>C	ENSP00000501648.1:p.Gly232Arg
ENST00000677389.1:c.694G>C MANE Plus Clinical	ENSP00000503633.1:p.Gly232Arg
ENST00000347559.6:c.694G>C	ENSP00000292304.3:p.Gly232Arg
ENST00000361308.8:c.694G>C	ENSP00000355292.5:p.Gly232Arg
ENST00000368297.5:c.451G>C	ENSP00000357280.1:p.Gly151Arg
ENST00000368299.7:c.694G>C	ENSP00000357282.3:p.Gly232Arg
ENST00000368300.8:c.694G>C	ENSP00000357283.4:p.Gly232Arg
ENST00000368301.6:c.694G>C	ENSP00000357284.2:p.Gly232Arg
ENST00000448611.6:c.358G>C	ENSP00000395597.2:p.Gly120Arg
ENST00000473598.6:c.397G>C	ENSP00000421821.1:p.Gly133Arg
ENST00000496738.5:n.39G>C
ENST00000504687.5:c.445G>C	ENSP00000426535.1:p.Gly149Arg
ENST00000515459.5:c.*368G>C	ENSP00000424518.1:n.*368G>C
ENST00000515824.1:n.55G>C
NM_001257374.2:c.358G>C	NP_001244303.1:p.Gly120Arg
NM_001282624.1:c.451G>C	NP_001269553.1:p.Gly151Arg
NM_001282625.1:c.694G>C	NP_001269554.1:p.Gly232Arg
NM_001282626.1:c.694G>C	NP_001269555.1:p.Gly232Arg
NM_005572.3:c.694G>C , LRG_254t1:c.694G>C	NP_005563.1:p.Gly232Arg
NM_170707.3:c.694G>C	NP_733821.1:p.Gly232Arg
NM_170708.3:c.694G>C	NP_733822.1:p.Gly232Arg
XM_011509533.1:c.358G>C	XP_011507835.1:p.Gly120Arg
XM_011509534.1:c.30G>C	XP_011507836.1:p.Met10Ile
XR_921781.1:n.943G>C
XM_011509534.2:c.30G>C	XP_011507836.1:p.Met10Ile
XR_921781.2:n.941G>C
NM_170707.4:c.694G>C MANE Select	NP_733821.1:p.Gly232Arg
NM_001257374.3:c.358G>C	NP_001244303.1:p.Gly120Arg
NM_001282626.2:c.694G>C	NP_001269555.1:p.Gly232Arg
NM_001282624.2:c.451G>C	NP_001269553.1:p.Gly151Arg
NM_001282625.2:c.694G>C	NP_001269554.1:p.Gly232Arg
NM_005572.4:c.694G>C MANE Plus Clinical	NP_005563.1:p.Gly232Arg
NM_170708.4:c.694G>C	NP_733822.1:p.Gly232Arg