Canonical Allele Identifier: CA31015360

Gene: LMNA

Linked Data

• dbSNP Id: rs541072397
• gnomAD v3: 1-156138523-G-A
• gnomAD v4: 1-156138523-G-A
• MyVariant Identifiers: chr1:g.156108314G>A (hg19) ; chr1:g.156138523G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156138523G>A , CM000663.2:g.156138523G>A	GRCh38
NC_000001.10:g.156108314G>A , CM000663.1:g.156108314G>A	GRCh37
NC_000001.9:g.154374938G>A	NCBI36
NG_008692.2:g.60951G>A , LRG_254:g.60951G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.1176G>A	ENSP00000426535.3:p.Glu392=
ENST00000682650.1:c.1644G>A	ENSP00000506904.1:p.Glu548=
ENST00000683032.1:c.1734G>A	ENSP00000506771.1:p.Glu578=
ENST00000683773.1:n.79G>A
ENST00000684195.1:c.*826G>A	ENSP00000508220.1:n.*826G>A
ENST00000361308.9:c.1734G>A	ENSP00000355292.6:p.Glu578=
ENST00000368300.9:c.1734G>A MANE Select	ENSP00000357283.4:p.Glu578=
ENST00000496738.6:n.2937G>A
ENST00000674518.1:c.*1084G>A	ENSP00000502261.1:n.*1084G>A
ENST00000674600.1:c.*1533G>A	ENSP00000501666.1:n.*1533G>A
ENST00000674720.1:c.*1040G>A	ENSP00000502798.1:n.*1040G>A
ENST00000675455.1:c.*1534G>A	ENSP00000501795.1:n.*1534G>A
ENST00000675667.1:c.1734G>A	ENSP00000501803.1:p.Glu578=
ENST00000675874.1:c.*1205G>A	ENSP00000501851.1:n.*1205G>A
ENST00000675881.1:c.*745G>A	ENSP00000501670.1:n.*745G>A
ENST00000675939.1:c.1734G>A	ENSP00000502256.1:p.Glu578=
ENST00000675989.1:n.3337G>A
ENST00000676208.1:c.*837G>A	ENSP00000502468.1:n.*837G>A
ENST00000676283.1:n.3274G>A
ENST00000676385.2:c.1644G>A	ENSP00000502091.1:p.Glu548=
ENST00000676434.1:c.*1489G>A	ENSP00000501648.1:n.*1489G>A
ENST00000347559.6:c.1644G>A	ENSP00000292304.3:p.Glu548=
ENST00000368299.7:c.1734G>A	ENSP00000357282.3:p.Glu578=
ENST00000368300.8:c.1734G>A	ENSP00000357283.4:p.Glu578=
ENST00000448611.6:c.1398G>A	ENSP00000395597.2:p.Glu466=
ENST00000473598.6:c.1437G>A	ENSP00000421821.1:p.Glu479=
ENST00000496738.5:n.1947G>A
ENST00000506981.1:n.318G>A
ENST00000508500.1:c.522G>A	ENSP00000424977.1:p.Glu174=
NM_001257374.2:c.1398G>A	NP_001244303.1:p.Glu466=
NM_001282626.1:c.1734G>A	NP_001269555.1:p.Glu578=
NM_170707.3:c.1734G>A	NP_733821.1:p.Glu578=
NM_170708.3:c.1644G>A	NP_733822.1:p.Glu548=
XM_011509533.1:c.1398G>A	XP_011507835.1:p.Glu466=
XM_011509534.1:c.1110G>A	XP_011507836.1:p.Glu370=
XR_921781.1:n.2023G>A
XM_011509534.2:c.1110G>A	XP_011507836.1:p.Glu370=
XR_921781.2:n.2021G>A
NM_170707.4:c.1734G>A MANE Select	NP_733821.1:p.Glu578=
NM_001257374.3:c.1398G>A	NP_001244303.1:p.Glu466=
NM_001282626.2:c.1734G>A	NP_001269555.1:p.Glu578=
NM_170708.4:c.1644G>A	NP_733822.1:p.Glu548=