Canonical Allele Identifier: CA1200472388

Gene: LMNA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156135921G= , CM000663.2:g.156135921G=	GRCh38
NC_000001.10:g.156105712G= , CM000663.1:g.156105712G=	GRCh37
NC_000001.9:g.154372336G=	NCBI36
NG_008692.2:g.58349G= , LRG_254:g.58349G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000504687.7:c.399G=	ENSP00000426535.3:p.Lys133=
ENST00000498722.3:n.189G=
ENST00000682650.1:c.957G=	ENSP00000506904.1:p.Lys319=
ENST00000683032.1:c.957G=	ENSP00000506771.1:p.Lys319=
ENST00000684195.1:c.957G=	ENSP00000508220.1:p.Lys319=
ENST00000361308.9:c.957G=	ENSP00000355292.6:p.Lys319=
ENST00000368300.9:c.957G= MANE Select	ENSP00000357283.4:p.Lys319=
ENST00000496738.6:n.1332G=
ENST00000674518.1:c.*307G=	ENSP00000502261.1:n.*307G=
ENST00000674600.1:c.*756G=	ENSP00000501666.1:n.*756G=
ENST00000674720.1:c.957G=	ENSP00000502798.1:p.Lys319=
ENST00000675431.1:n.650G=
ENST00000675455.1:c.*757G=	ENSP00000501795.1:n.*757G=
ENST00000675667.1:c.957G=	ENSP00000501803.1:p.Lys319=
ENST00000675874.1:c.*428G=	ENSP00000501851.1:n.*428G=
ENST00000675881.1:c.997G=	ENSP00000501670.1:p.Ala333=
ENST00000675939.1:c.957G=	ENSP00000502256.1:p.Lys319=
ENST00000675989.1:n.1332G=
ENST00000676208.1:c.997G=	ENSP00000502468.1:p.Ala333=
ENST00000676283.1:n.1332G=
ENST00000676385.2:c.957G=	ENSP00000502091.1:p.Lys319=
ENST00000676434.1:c.997G=	ENSP00000501648.1:p.Ala333=
ENST00000677389.1:c.957G= MANE Plus Clinical	ENSP00000503633.1:p.Lys319=
ENST00000347559.6:c.957G=	ENSP00000292304.3:p.Lys319=
ENST00000361308.8:c.957G=	ENSP00000355292.5:p.Lys319=
ENST00000368297.5:c.714G=	ENSP00000357280.1:p.Lys238=
ENST00000368298.2:n.221G=
ENST00000368299.7:c.957G=	ENSP00000357282.3:p.Lys319=
ENST00000368300.8:c.957G=	ENSP00000357283.4:p.Lys319=
ENST00000368301.6:c.957G=	ENSP00000357284.2:p.Lys319=
ENST00000448611.6:c.621G=	ENSP00000395597.2:p.Lys207=
ENST00000473598.6:c.660G=	ENSP00000421821.1:p.Lys220=
ENST00000496738.5:n.342G=
ENST00000498722.2:n.189G=
NM_001257374.2:c.621G=	NP_001244303.1:p.Lys207=
NM_001282624.1:c.714G=	NP_001269553.1:p.Lys238=
NM_001282625.1:c.957G=	NP_001269554.1:p.Lys319=
NM_001282626.1:c.957G=	NP_001269555.1:p.Lys319=
NM_005572.3:c.957G= , LRG_254t1:c.957G=	NP_005563.1:p.Lys319=
NM_170707.3:c.957G=	NP_733821.1:p.Lys319=
NM_170708.3:c.957G=	NP_733822.1:p.Lys319=
XM_011509533.1:c.621G=	XP_011507835.1:p.Lys207=
XM_011509534.1:c.333G=	XP_011507836.1:p.Lys111=
XR_921781.1:n.1246G=
XM_011509534.2:c.333G=	XP_011507836.1:p.Lys111=
XR_921781.2:n.1244G=
NM_170707.4:c.957G= MANE Select	NP_733821.1:p.Lys319=
NM_001257374.3:c.621G=	NP_001244303.1:p.Lys207=
NM_001282626.2:c.957G=	NP_001269555.1:p.Lys319=
NM_001282624.2:c.714G=	NP_001269553.1:p.Lys238=
NM_001282625.2:c.957G=	NP_001269554.1:p.Lys319=
NM_005572.4:c.957G= MANE Plus Clinical	NP_005563.1:p.Lys319=
NM_170708.4:c.957G=	NP_733822.1:p.Lys319=