Canonical Allele Identifier: CA342826721

Gene: LMNA

Linked Data

• MyVariant Identifiers: chr1:g.156108355G>C (hg19) ; chr1:g.156138564G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156138564G>C , CM000663.2:g.156138564G>C	GRCh38
NC_000001.10:g.156108355G>C , CM000663.1:g.156108355G>C	GRCh37
NC_000001.9:g.154374979G>C	NCBI36
NG_008692.2:g.60992G>C , LRG_254:g.60992G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.1217G>C	ENSP00000426535.3:p.Gly406Ala
ENST00000682650.1:c.1685G>C	ENSP00000506904.1:p.Gly562Ala
ENST00000683032.1:c.1775G>C	ENSP00000506771.1:p.Gly592Ala
ENST00000683773.1:n.120G>C
ENST00000684195.1:c.*867G>C	ENSP00000508220.1:n.*867G>C
ENST00000361308.9:c.1775G>C	ENSP00000355292.6:p.Gly592Ala
ENST00000368300.9:c.1775G>C MANE Select	ENSP00000357283.4:p.Gly592Ala
ENST00000496738.6:n.2978G>C
ENST00000674518.1:c.*1125G>C	ENSP00000502261.1:n.*1125G>C
ENST00000674600.1:c.*1574G>C	ENSP00000501666.1:n.*1574G>C
ENST00000674720.1:c.*1081G>C	ENSP00000502798.1:n.*1081G>C
ENST00000675455.1:c.*1575G>C	ENSP00000501795.1:n.*1575G>C
ENST00000675667.1:c.1775G>C	ENSP00000501803.1:p.Gly592Ala
ENST00000675874.1:c.*1246G>C	ENSP00000501851.1:n.*1246G>C
ENST00000675881.1:c.*786G>C	ENSP00000501670.1:n.*786G>C
ENST00000675939.1:c.1775G>C	ENSP00000502256.1:p.Gly592Ala
ENST00000675989.1:n.3378G>C
ENST00000676208.1:c.*878G>C	ENSP00000502468.1:n.*878G>C
ENST00000676283.1:n.3315G>C
ENST00000676385.2:c.1685G>C	ENSP00000502091.1:p.Gly562Ala
ENST00000676434.1:c.*1530G>C	ENSP00000501648.1:n.*1530G>C
ENST00000347559.6:c.1685G>C	ENSP00000292304.3:p.Gly562Ala
ENST00000368299.7:c.1775G>C	ENSP00000357282.3:p.Gly592Ala
ENST00000368300.8:c.1775G>C	ENSP00000357283.4:p.Gly592Ala
ENST00000448611.6:c.1439G>C	ENSP00000395597.2:p.Gly480Ala
ENST00000473598.6:c.1478G>C	ENSP00000421821.1:p.Gly493Ala
ENST00000496738.5:n.1988G>C
ENST00000506981.1:n.359G>C
ENST00000508500.1:c.563G>C	ENSP00000424977.1:p.Gly188Ala
NM_001257374.2:c.1439G>C	NP_001244303.1:p.Gly480Ala
NM_001282626.1:c.1775G>C	NP_001269555.1:p.Gly592Ala
NM_170707.3:c.1775G>C	NP_733821.1:p.Gly592Ala
NM_170708.3:c.1685G>C	NP_733822.1:p.Gly562Ala
XM_011509533.1:c.1439G>C	XP_011507835.1:p.Gly480Ala
XM_011509534.1:c.1151G>C	XP_011507836.1:p.Gly384Ala
XR_921781.1:n.2064G>C
XM_011509534.2:c.1151G>C	XP_011507836.1:p.Gly384Ala
XR_921781.2:n.2062G>C
NM_170707.4:c.1775G>C MANE Select	NP_733821.1:p.Gly592Ala
NM_001257374.3:c.1439G>C	NP_001244303.1:p.Gly480Ala
NM_001282626.2:c.1775G>C	NP_001269555.1:p.Gly592Ala
NM_170708.4:c.1685G>C	NP_733822.1:p.Gly562Ala