Canonical Allele Identifier: CA342817304

Gene: LMNA

Linked Data

• MyVariant Identifiers: chr1:g.156104696A>C (hg19) ; chr1:g.156134905A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156134905A>C , CM000663.2:g.156134905A>C	GRCh38
NC_000001.10:g.156104696A>C , CM000663.1:g.156104696A>C	GRCh37
NC_000001.9:g.154371320A>C	NCBI36
NG_008692.2:g.57333A>C , LRG_254:g.57333A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000504687.7:c.182A>C	ENSP00000426535.3:p.Glu61Ala
ENST00000682650.1:c.740A>C	ENSP00000506904.1:p.Glu247Ala
ENST00000683032.1:c.740A>C	ENSP00000506771.1:p.Glu247Ala
ENST00000684195.1:c.740A>C	ENSP00000508220.1:p.Glu247Ala
ENST00000361308.9:c.740A>C	ENSP00000355292.6:p.Glu247Ala
ENST00000368300.9:c.740A>C MANE Select	ENSP00000357283.4:p.Glu247Ala
ENST00000496738.6:n.1115A>C
ENST00000504687.6:c.76A>C	ENSP00000426535.2:p.Asn26His
ENST00000674518.1:c.*90A>C	ENSP00000502261.1:n.*90A>C
ENST00000674600.1:c.*539A>C	ENSP00000501666.1:n.*539A>C
ENST00000674720.1:c.740A>C	ENSP00000502798.1:p.Glu247Ala
ENST00000675431.1:n.433A>C
ENST00000675455.1:c.*540A>C	ENSP00000501795.1:n.*540A>C
ENST00000675667.1:c.740A>C	ENSP00000501803.1:p.Glu247Ala
ENST00000675874.1:c.*211A>C	ENSP00000501851.1:n.*211A>C
ENST00000675881.1:c.740A>C	ENSP00000501670.1:p.Glu247Ala
ENST00000675939.1:c.740A>C	ENSP00000502256.1:p.Glu247Ala
ENST00000675989.1:n.1115A>C
ENST00000676208.1:c.740A>C	ENSP00000502468.1:p.Glu247Ala
ENST00000676283.1:n.1115A>C
ENST00000676385.2:c.740A>C	ENSP00000502091.1:p.Glu247Ala
ENST00000676434.1:c.740A>C	ENSP00000501648.1:p.Glu247Ala
ENST00000677389.1:c.740A>C MANE Plus Clinical	ENSP00000503633.1:p.Glu247Ala
ENST00000347559.6:c.740A>C	ENSP00000292304.3:p.Glu247Ala
ENST00000361308.8:c.740A>C	ENSP00000355292.5:p.Glu247Ala
ENST00000368297.5:c.497A>C	ENSP00000357280.1:p.Glu166Ala
ENST00000368299.7:c.740A>C	ENSP00000357282.3:p.Glu247Ala
ENST00000368300.8:c.740A>C	ENSP00000357283.4:p.Glu247Ala
ENST00000368301.6:c.740A>C	ENSP00000357284.2:p.Glu247Ala
ENST00000448611.6:c.404A>C	ENSP00000395597.2:p.Glu135Ala
ENST00000473598.6:c.443A>C	ENSP00000421821.1:p.Glu148Ala
ENST00000496738.5:n.85A>C
ENST00000504687.5:c.491A>C	ENSP00000426535.1:p.Glu164Ala
ENST00000515459.5:c.*414A>C	ENSP00000424518.1:n.*414A>C
ENST00000515824.1:n.101A>C
NM_001257374.2:c.404A>C	NP_001244303.1:p.Glu135Ala
NM_001282624.1:c.497A>C	NP_001269553.1:p.Glu166Ala
NM_001282625.1:c.740A>C	NP_001269554.1:p.Glu247Ala
NM_001282626.1:c.740A>C	NP_001269555.1:p.Glu247Ala
NM_005572.3:c.740A>C , LRG_254t1:c.740A>C	NP_005563.1:p.Glu247Ala
NM_170707.3:c.740A>C	NP_733821.1:p.Glu247Ala
NM_170708.3:c.740A>C	NP_733822.1:p.Glu247Ala
XM_011509533.1:c.404A>C	XP_011507835.1:p.Glu135Ala
XM_011509534.1:c.76A>C	XP_011507836.1:p.Asn26His
XR_921781.1:n.989A>C
XM_011509534.2:c.76A>C	XP_011507836.1:p.Asn26His
XR_921781.2:n.987A>C
NM_170707.4:c.740A>C MANE Select	NP_733821.1:p.Glu247Ala
NM_001257374.3:c.404A>C	NP_001244303.1:p.Glu135Ala
NM_001282626.2:c.740A>C	NP_001269555.1:p.Glu247Ala
NM_001282624.2:c.497A>C	NP_001269553.1:p.Glu166Ala
NM_001282625.2:c.740A>C	NP_001269554.1:p.Glu247Ala
NM_005572.4:c.740A>C MANE Plus Clinical	NP_005563.1:p.Glu247Ala
NM_170708.4:c.740A>C	NP_733822.1:p.Glu247Ala