Canonical Allele Identifier: CA421068219
Gene: LMNA HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.156100432G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156130641G>C , CM000663.2:g.156130641G>C GRCh38
NC_000001.10:g.156100432G>C , CM000663.1:g.156100432G>C GRCh37
NC_000001.9:g.154367056G>C NCBI36
NG_008692.2:g.53069G>C , LRG_254:g.53069G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000504687.7:c.-178G>C ENSP00000426535.3:n.-178G>C
ENST00000682650.1:c.381G>C ENSP00000506904.1:p.Leu127=
ENST00000683032.1:c.381G>C ENSP00000506771.1:p.Leu127=
ENST00000684195.1:c.381G>C ENSP00000508220.1:p.Leu127=
ENST00000361308.9:c.381G>C ENSP00000355292.6:p.Leu127=
ENST00000368300.9:c.381G>C MANE Select ENSP00000357283.4:p.Leu127=
ENST00000496738.6:n.756G>C
ENST00000504687.6:c.-284G>C ENSP00000426535.2:n.-284G>C
ENST00000674518.1:c.381G>C ENSP00000502261.1:p.Leu127=
ENST00000674600.1:c.*180G>C ENSP00000501666.1:n.*180G>C
ENST00000674720.1:c.381G>C ENSP00000502798.1:p.Leu127=
ENST00000675431.1:n.74G>C
ENST00000675455.1:c.*181G>C ENSP00000501795.1:n.*181G>C
ENST00000675667.1:c.381G>C ENSP00000501803.1:p.Leu127=
ENST00000675874.1:c.357-3762G>C ENSP00000501851.1:n.357-3762G>C
ENST00000675881.1:c.381G>C ENSP00000501670.1:p.Leu127=
ENST00000675939.1:c.381G>C ENSP00000502256.1:p.Leu127=
ENST00000675989.1:n.756G>C
ENST00000676208.1:c.381G>C ENSP00000502468.1:p.Leu127=
ENST00000676283.1:n.756G>C
ENST00000676385.2:c.381G>C ENSP00000502091.1:p.Leu127=
ENST00000676434.1:c.381G>C ENSP00000501648.1:p.Leu127=
ENST00000677389.1:c.381G>C MANE Plus Clinical ENSP00000503633.1:p.Leu127=
ENST00000347559.6:c.381G>C ENSP00000292304.3:p.Leu127=
ENST00000361308.8:c.381G>C ENSP00000355292.5:p.Leu127=
ENST00000368297.5:c.138G>C ENSP00000357280.1:p.Leu46=
ENST00000368299.7:c.381G>C ENSP00000357282.3:p.Leu127=
ENST00000368300.8:c.381G>C ENSP00000357283.4:p.Leu127=
ENST00000368301.6:c.381G>C ENSP00000357284.2:p.Leu127=
ENST00000448611.6:c.45G>C ENSP00000395597.2:p.Leu15=
ENST00000469565.6:n.415G>C
ENST00000470199.2:n.357-34G>C
ENST00000473598.6:c.84G>C ENSP00000421821.1:p.Leu28=
ENST00000502357.5:n.279G>C
ENST00000502751.5:n.353G>C
ENST00000504687.5:c.132G>C ENSP00000426535.1:p.Leu44=
ENST00000515459.5:c.*55G>C ENSP00000424518.1:n.*55G>C
NM_001257374.2:c.45G>C NP_001244303.1:p.Leu15=
NM_001282624.1:c.138G>C NP_001269553.1:p.Leu46=
NM_001282625.1:c.381G>C NP_001269554.1:p.Leu127=
NM_001282626.1:c.381G>C NP_001269555.1:p.Leu127=
NM_005572.3:c.381G>C , LRG_254t1:c.381G>C NP_005563.1:p.Leu127=
NM_170707.3:c.381G>C NP_733821.1:p.Leu127=
NM_170708.3:c.381G>C NP_733822.1:p.Leu127=
XM_011509533.1:c.45G>C XP_011507835.1:p.Leu15=
XM_011509534.1:c.-284G>C XP_011507836.1:n.-284G>C
XR_921781.1:n.630G>C
XM_011509534.2:c.-284G>C XP_011507836.1:n.-284G>C
XR_921781.2:n.628G>C
NM_170707.4:c.381G>C MANE Select NP_733821.1:p.Leu127=
NM_001257374.3:c.45G>C NP_001244303.1:p.Leu15=
NM_001282626.2:c.381G>C NP_001269555.1:p.Leu127=
NM_001282624.2:c.138G>C NP_001269553.1:p.Leu46=
NM_001282625.2:c.381G>C NP_001269554.1:p.Leu127=
NM_005572.4:c.381G>C MANE Plus Clinical NP_005563.1:p.Leu127=
NM_170708.4:c.381G>C NP_733822.1:p.Leu127=