Canonical Allele Identifier: CA342820267

Gene: LMNA

Linked Data

• dbSNP Id: rs267607610
• gnomAD v2: 1-156105803-G-A
• gnomAD v4: 1-156136012-G-A
• MyVariant Identifiers: chr1:g.156105803G>A (hg19) ; chr1:g.156136012G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156136012G>A , CM000663.2:g.156136012G>A	GRCh38
NC_000001.10:g.156105803G>A , CM000663.1:g.156105803G>A	GRCh37
NC_000001.9:g.154372427G>A	NCBI36
NG_008692.2:g.58440G>A , LRG_254:g.58440G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000504687.7:c.490G>A	ENSP00000426535.3:p.Ala164Thr
ENST00000498722.3:n.280G>A
ENST00000682650.1:c.1048G>A	ENSP00000506904.1:p.Ala350Thr
ENST00000683032.1:c.1048G>A	ENSP00000506771.1:p.Ala350Thr
ENST00000684195.1:c.1048G>A	ENSP00000508220.1:p.Ala350Thr
ENST00000361308.9:c.1048G>A	ENSP00000355292.6:p.Ala350Thr
ENST00000368300.9:c.1048G>A MANE Select	ENSP00000357283.4:p.Ala350Thr
ENST00000496738.6:n.1423G>A
ENST00000674518.1:c.*398G>A	ENSP00000502261.1:n.*398G>A
ENST00000674600.1:c.*847G>A	ENSP00000501666.1:n.*847G>A
ENST00000674720.1:c.1048G>A	ENSP00000502798.1:p.Ala350Thr
ENST00000675431.1:n.741G>A
ENST00000675455.1:c.*848G>A	ENSP00000501795.1:n.*848G>A
ENST00000675667.1:c.1048G>A	ENSP00000501803.1:p.Ala350Thr
ENST00000675874.1:c.*519G>A	ENSP00000501851.1:n.*519G>A
ENST00000675881.1:c.*59G>A	ENSP00000501670.1:n.*59G>A
ENST00000675939.1:c.1048G>A	ENSP00000502256.1:p.Ala350Thr
ENST00000675989.1:n.1423G>A
ENST00000676208.1:c.*59G>A	ENSP00000502468.1:n.*59G>A
ENST00000676283.1:n.1423G>A
ENST00000676385.2:c.1048G>A	ENSP00000502091.1:p.Ala350Thr
ENST00000676434.1:c.*59G>A	ENSP00000501648.1:n.*59G>A
ENST00000677389.1:c.1048G>A MANE Plus Clinical	ENSP00000503633.1:p.Ala350Thr
ENST00000347559.6:c.1048G>A	ENSP00000292304.3:p.Ala350Thr
ENST00000361308.8:c.1048G>A	ENSP00000355292.5:p.Ala350Thr
ENST00000368297.5:c.805G>A	ENSP00000357280.1:p.Ala269Thr
ENST00000368298.2:n.312G>A
ENST00000368299.7:c.1048G>A	ENSP00000357282.3:p.Ala350Thr
ENST00000368300.8:c.1048G>A	ENSP00000357283.4:p.Ala350Thr
ENST00000368301.6:c.1048G>A	ENSP00000357284.2:p.Ala350Thr
ENST00000448611.6:c.712G>A	ENSP00000395597.2:p.Ala238Thr
ENST00000473598.6:c.751G>A	ENSP00000421821.1:p.Ala251Thr
ENST00000496738.5:n.433G>A
ENST00000498722.2:n.280G>A
NM_001257374.2:c.712G>A	NP_001244303.1:p.Ala238Thr
NM_001282624.1:c.805G>A	NP_001269553.1:p.Ala269Thr
NM_001282625.1:c.1048G>A	NP_001269554.1:p.Ala350Thr
NM_001282626.1:c.1048G>A	NP_001269555.1:p.Ala350Thr
NM_005572.3:c.1048G>A , LRG_254t1:c.1048G>A	NP_005563.1:p.Ala350Thr
NM_170707.3:c.1048G>A	NP_733821.1:p.Ala350Thr
NM_170708.3:c.1048G>A	NP_733822.1:p.Ala350Thr
XM_011509533.1:c.712G>A	XP_011507835.1:p.Ala238Thr
XM_011509534.1:c.424G>A	XP_011507836.1:p.Ala142Thr
XR_921781.1:n.1337G>A
XM_011509534.2:c.424G>A	XP_011507836.1:p.Ala142Thr
XR_921781.2:n.1335G>A
NM_170707.4:c.1048G>A MANE Select	NP_733821.1:p.Ala350Thr
NM_001257374.3:c.712G>A	NP_001244303.1:p.Ala238Thr
NM_001282626.2:c.1048G>A	NP_001269555.1:p.Ala350Thr
NM_001282624.2:c.805G>A	NP_001269553.1:p.Ala269Thr
NM_001282625.2:c.1048G>A	NP_001269554.1:p.Ala350Thr
NM_005572.4:c.1048G>A MANE Plus Clinical	NP_005563.1:p.Ala350Thr
NM_170708.4:c.1048G>A	NP_733822.1:p.Ala350Thr