Canonical Allele Identifier: CA342825552

Gene: LMNA

Linked Data

• MyVariant Identifiers: chr1:g.156107489G>C (hg19) ; chr1:g.156137698G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156137698G>C , CM000663.2:g.156137698G>C	GRCh38
NC_000001.10:g.156107489G>C , CM000663.1:g.156107489G>C	GRCh37
NC_000001.9:g.154374113G>C	NCBI36
NG_008692.2:g.60126G>C , LRG_254:g.60126G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.1095G>C	ENSP00000426535.3:p.Glu365Asp
ENST00000498722.3:n.885G>C
ENST00000682650.1:c.1608+466G>C	ENSP00000506904.1:n.1608+466G>C
ENST00000683032.1:c.1653G>C	ENSP00000506771.1:p.Glu551Asp
ENST00000684195.1:c.*1G>C	ENSP00000508220.1:n.*1G>C
ENST00000361308.9:c.1653G>C	ENSP00000355292.6:p.Glu551Asp
ENST00000368300.9:c.1653G>C MANE Select	ENSP00000357283.4:p.Glu551Asp
ENST00000496738.6:n.2112G>C
ENST00000674518.1:c.*1003G>C	ENSP00000502261.1:n.*1003G>C
ENST00000674600.1:c.*1452G>C	ENSP00000501666.1:n.*1452G>C
ENST00000674720.1:c.*215G>C	ENSP00000502798.1:n.*215G>C
ENST00000675431.1:n.1346G>C
ENST00000675455.1:c.*1453G>C	ENSP00000501795.1:n.*1453G>C
ENST00000675667.1:c.1653G>C	ENSP00000501803.1:p.Glu551Asp
ENST00000675874.1:c.*1124G>C	ENSP00000501851.1:n.*1124G>C
ENST00000675881.1:c.*664G>C	ENSP00000501670.1:n.*664G>C
ENST00000675939.1:c.1653G>C	ENSP00000502256.1:p.Glu551Asp
ENST00000675989.1:n.2512G>C
ENST00000676208.1:c.*756G>C	ENSP00000502468.1:n.*756G>C
ENST00000676283.1:n.2449G>C
ENST00000676385.2:c.1608+466G>C	ENSP00000502091.1:n.1608+466G>C
ENST00000676434.1:c.*664G>C	ENSP00000501648.1:n.*664G>C
ENST00000677389.1:c.1653G>C MANE Plus Clinical	ENSP00000503633.1:p.Glu551Asp
ENST00000347559.6:c.1608+466G>C	ENSP00000292304.3:n.1608+466G>C
ENST00000361308.8:c.1398G>C	ENSP00000355292.5:p.Glu466Asp
ENST00000368297.5:c.1410G>C	ENSP00000357280.1:p.Glu470Asp
ENST00000368299.7:c.1653G>C	ENSP00000357282.3:p.Glu551Asp
ENST00000368300.8:c.1653G>C	ENSP00000357283.4:p.Glu551Asp
ENST00000368301.6:c.1653G>C	ENSP00000357284.2:p.Glu551Asp
ENST00000448611.6:c.1317G>C	ENSP00000395597.2:p.Glu439Asp
ENST00000473598.6:c.1356G>C	ENSP00000421821.1:p.Glu452Asp
ENST00000496738.5:n.1122G>C
ENST00000498722.2:n.885G>C
ENST00000506981.1:n.237G>C
ENST00000508500.1:c.486+466G>C	ENSP00000424977.1:n.486+466G>C
NM_001257374.2:c.1317G>C	NP_001244303.1:p.Glu439Asp
NM_001282624.1:c.1410G>C	NP_001269553.1:p.Glu470Asp
NM_001282625.1:c.1653G>C	NP_001269554.1:p.Glu551Asp
NM_001282626.1:c.1653G>C	NP_001269555.1:p.Glu551Asp
NM_005572.3:c.1653G>C , LRG_254t1:c.1653G>C	NP_005563.1:p.Glu551Asp
NM_170707.3:c.1653G>C	NP_733821.1:p.Glu551Asp
NM_170708.3:c.1608+466G>C	NP_733822.1:n.1608+466G>C
XM_011509533.1:c.1317G>C	XP_011507835.1:p.Glu439Asp
XM_011509534.1:c.1029G>C	XP_011507836.1:p.Glu343Asp
XR_921781.1:n.1942G>C
XM_011509534.2:c.1029G>C	XP_011507836.1:p.Glu343Asp
XR_921781.2:n.1940G>C
NM_170707.4:c.1653G>C MANE Select	NP_733821.1:p.Glu551Asp
NM_001257374.3:c.1317G>C	NP_001244303.1:p.Glu439Asp
NM_001282626.2:c.1653G>C	NP_001269555.1:p.Glu551Asp
NM_001282624.2:c.1410G>C	NP_001269553.1:p.Glu470Asp
NM_001282625.2:c.1653G>C	NP_001269554.1:p.Glu551Asp
NM_005572.4:c.1653G>C MANE Plus Clinical	NP_005563.1:p.Glu551Asp
NM_170708.4:c.1608+466G>C	NP_733822.1:n.1608+466G>C