Canonical Allele Identifier: CA017630

Gene: LMNA

Linked Data

• ClinVar Variation Id: 66861
• ClinVar RCV Id: RCV000057345
• dbSNP Id: rs61444459
• MyVariant Identifiers: chr1:g.156107458G>C (hg19) ; chr1:g.156137667G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156137667G>C , CM000663.2:g.156137667G>C	GRCh38
NC_000001.10:g.156107458G>C , CM000663.1:g.156107458G>C	GRCh37
NC_000001.9:g.154374082G>C	NCBI36
NG_008692.2:g.60095G>C , LRG_254:g.60095G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.1064G>C	ENSP00000426535.3:p.Arg355Pro
ENST00000498722.3:n.854G>C
ENST00000682650.1:c.1608+435G>C	ENSP00000506904.1:n.1608+435G>C
ENST00000683032.1:c.1622G>C	ENSP00000506771.1:p.Arg541Pro
ENST00000684195.1:c.1593G>C	ENSP00000508220.1:p.Ala531=
ENST00000361308.9:c.1622G>C	ENSP00000355292.6:p.Arg541Pro
ENST00000368300.9:c.1622G>C MANE Select	ENSP00000357283.4:p.Arg541Pro
ENST00000496738.6:n.2081G>C
ENST00000674518.1:c.*972G>C	ENSP00000502261.1:n.*972G>C
ENST00000674600.1:c.*1421G>C	ENSP00000501666.1:n.*1421G>C
ENST00000674720.1:c.*184G>C	ENSP00000502798.1:n.*184G>C
ENST00000675431.1:n.1315G>C
ENST00000675455.1:c.*1422G>C	ENSP00000501795.1:n.*1422G>C
ENST00000675667.1:c.1622G>C	ENSP00000501803.1:p.Arg541Pro
ENST00000675874.1:c.*1093G>C	ENSP00000501851.1:n.*1093G>C
ENST00000675881.1:c.*633G>C	ENSP00000501670.1:n.*633G>C
ENST00000675939.1:c.1622G>C	ENSP00000502256.1:p.Arg541Pro
ENST00000675989.1:n.2481G>C
ENST00000676208.1:c.*725G>C	ENSP00000502468.1:n.*725G>C
ENST00000676283.1:n.2418G>C
ENST00000676385.2:c.1608+435G>C	ENSP00000502091.1:n.1608+435G>C
ENST00000676434.1:c.*633G>C	ENSP00000501648.1:n.*633G>C
ENST00000677389.1:c.1622G>C MANE Plus Clinical	ENSP00000503633.1:p.Arg541Pro
ENST00000347559.6:c.1608+435G>C	ENSP00000292304.3:n.1608+435G>C
ENST00000361308.8:c.1367G>C	ENSP00000355292.5:p.Arg456Pro
ENST00000368297.5:c.1379G>C	ENSP00000357280.1:p.Arg460Pro
ENST00000368299.7:c.1622G>C	ENSP00000357282.3:p.Arg541Pro
ENST00000368300.8:c.1622G>C	ENSP00000357283.4:p.Arg541Pro
ENST00000368301.6:c.1622G>C	ENSP00000357284.2:p.Arg541Pro
ENST00000448611.6:c.1286G>C	ENSP00000395597.2:p.Arg429Pro
ENST00000473598.6:c.1325G>C	ENSP00000421821.1:p.Arg442Pro
ENST00000496738.5:n.1091G>C
ENST00000498722.2:n.854G>C
ENST00000506981.1:n.206G>C
ENST00000508500.1:c.486+435G>C	ENSP00000424977.1:n.486+435G>C
NM_001257374.2:c.1286G>C	NP_001244303.1:p.Arg429Pro
NM_001282624.1:c.1379G>C	NP_001269553.1:p.Arg460Pro
NM_001282625.1:c.1622G>C	NP_001269554.1:p.Arg541Pro
NM_001282626.1:c.1622G>C	NP_001269555.1:p.Arg541Pro
NM_005572.3:c.1622G>C , LRG_254t1:c.1622G>C	NP_005563.1:p.Arg541Pro
NM_170707.3:c.1622G>C	NP_733821.1:p.Arg541Pro
NM_170708.3:c.1608+435G>C	NP_733822.1:n.1608+435G>C
XM_011509533.1:c.1286G>C	XP_011507835.1:p.Arg429Pro
XM_011509534.1:c.998G>C	XP_011507836.1:p.Arg333Pro
XR_921781.1:n.1911G>C
XM_011509534.2:c.998G>C	XP_011507836.1:p.Arg333Pro
XR_921781.2:n.1909G>C
NM_170707.4:c.1622G>C MANE Select	NP_733821.1:p.Arg541Pro
NM_001257374.3:c.1286G>C	NP_001244303.1:p.Arg429Pro
NM_001282626.2:c.1622G>C	NP_001269555.1:p.Arg541Pro
NM_001282624.2:c.1379G>C	NP_001269553.1:p.Arg460Pro
NM_001282625.2:c.1622G>C	NP_001269554.1:p.Arg541Pro
NM_005572.4:c.1622G>C MANE Plus Clinical	NP_005563.1:p.Arg541Pro
NM_170708.4:c.1608+435G>C	NP_733822.1:n.1608+435G>C