Canonical Allele Identifier: CA421069199

Gene: LMNA

Linked Data

• dbSNP Id: rs781763410
• gnomAD v2: 1-156107017-T-G
• gnomAD v4: 1-156137226-T-G
• MyVariant Identifiers: chr1:g.156107017T>G (hg19) ; chr1:g.156137226T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156137226T>G , CM000663.2:g.156137226T>G	GRCh38
NC_000001.10:g.156107017T>G , CM000663.1:g.156107017T>G	GRCh37
NC_000001.9:g.154373641T>G	NCBI36
NG_008692.2:g.59654T>G , LRG_254:g.59654T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.1044T>G	ENSP00000426535.3:p.Thr348=
ENST00000459904.2:n.850T>G
ENST00000498722.3:n.834T>G
ENST00000682650.1:c.1602T>G	ENSP00000506904.1:p.Thr534=
ENST00000683032.1:c.1602T>G	ENSP00000506771.1:p.Thr534=
ENST00000684195.1:c.1579+23T>G	ENSP00000508220.1:n.1579+23T>G
ENST00000361308.9:c.1602T>G	ENSP00000355292.6:p.Thr534=
ENST00000368300.9:c.1602T>G MANE Select	ENSP00000357283.4:p.Thr534=
ENST00000496738.6:n.2061T>G
ENST00000674518.1:c.*952T>G	ENSP00000502261.1:n.*952T>G
ENST00000674600.1:c.*1401T>G	ENSP00000501666.1:n.*1401T>G
ENST00000674720.1:c.*164T>G	ENSP00000502798.1:n.*164T>G
ENST00000675431.1:n.1295T>G
ENST00000675455.1:c.*1402T>G	ENSP00000501795.1:n.*1402T>G
ENST00000675667.1:c.1602T>G	ENSP00000501803.1:p.Thr534=
ENST00000675874.1:c.*1073T>G	ENSP00000501851.1:n.*1073T>G
ENST00000675881.1:c.*613T>G	ENSP00000501670.1:n.*613T>G
ENST00000675939.1:c.1602T>G	ENSP00000502256.1:p.Thr534=
ENST00000675989.1:n.2461T>G
ENST00000676208.1:c.*705T>G	ENSP00000502468.1:n.*705T>G
ENST00000676283.1:n.1977T>G
ENST00000676385.2:c.1602T>G	ENSP00000502091.1:p.Thr534=
ENST00000676434.1:c.*613T>G	ENSP00000501648.1:n.*613T>G
ENST00000677389.1:c.1602T>G MANE Plus Clinical	ENSP00000503633.1:p.Thr534=
ENST00000347559.6:c.1602T>G	ENSP00000292304.3:p.Thr534=
ENST00000361308.8:c.1347T>G	ENSP00000355292.5:p.Thr449=
ENST00000368297.5:c.1359T>G	ENSP00000357280.1:p.Thr453=
ENST00000368298.2:n.1434T>G
ENST00000368299.7:c.1602T>G	ENSP00000357282.3:p.Thr534=
ENST00000368300.8:c.1602T>G	ENSP00000357283.4:p.Thr534=
ENST00000368301.6:c.1602T>G	ENSP00000357284.2:p.Thr534=
ENST00000448611.6:c.1266T>G	ENSP00000395597.2:p.Thr422=
ENST00000459904.1:n.850T>G
ENST00000473598.6:c.1305T>G	ENSP00000421821.1:p.Thr435=
ENST00000496738.5:n.1071T>G
ENST00000498722.2:n.834T>G
ENST00000508500.1:c.480T>G	ENSP00000424977.1:p.Thr160=
NM_001257374.2:c.1266T>G	NP_001244303.1:p.Thr422=
NM_001282624.1:c.1359T>G	NP_001269553.1:p.Thr453=
NM_001282625.1:c.1602T>G	NP_001269554.1:p.Thr534=
NM_001282626.1:c.1602T>G	NP_001269555.1:p.Thr534=
NM_005572.3:c.1602T>G , LRG_254t1:c.1602T>G	NP_005563.1:p.Thr534=
NM_170707.3:c.1602T>G	NP_733821.1:p.Thr534=
NM_170708.3:c.1602T>G	NP_733822.1:p.Thr534=
XM_011509533.1:c.1266T>G	XP_011507835.1:p.Thr422=
XM_011509534.1:c.978T>G	XP_011507836.1:p.Thr326=
XR_921781.1:n.1891T>G
XM_011509534.2:c.978T>G	XP_011507836.1:p.Thr326=
XR_921781.2:n.1889T>G
NM_170707.4:c.1602T>G MANE Select	NP_733821.1:p.Thr534=
NM_001257374.3:c.1266T>G	NP_001244303.1:p.Thr422=
NM_001282626.2:c.1602T>G	NP_001269555.1:p.Thr534=
NM_001282624.2:c.1359T>G	NP_001269553.1:p.Thr453=
NM_001282625.2:c.1602T>G	NP_001269554.1:p.Thr534=
NM_005572.4:c.1602T>G MANE Plus Clinical	NP_005563.1:p.Thr534=
NM_170708.4:c.1602T>G	NP_733822.1:p.Thr534=