Canonical Allele Identifier: CA421069273

Gene: LMNA

Linked Data

• dbSNP Id: rs1326511337
• gnomAD v2: 1-156107453-C-T
• gnomAD v4: 1-156137662-C-T
• MyVariant Identifiers: chr1:g.156107453C>T (hg19) ; chr1:g.156137662C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156137662C>T , CM000663.2:g.156137662C>T	GRCh38
NC_000001.10:g.156107453C>T , CM000663.1:g.156107453C>T	GRCh37
NC_000001.9:g.154374077C>T	NCBI36
NG_008692.2:g.60090C>T , LRG_254:g.60090C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.1059C>T	ENSP00000426535.3:p.Ala353=
ENST00000498722.3:n.849C>T
ENST00000682650.1:c.1608+430C>T	ENSP00000506904.1:n.1608+430C>T
ENST00000683032.1:c.1617C>T	ENSP00000506771.1:p.Ala539=
ENST00000684195.1:c.1588C>T	ENSP00000508220.1:p.His530Tyr
ENST00000361308.9:c.1617C>T	ENSP00000355292.6:p.Ala539=
ENST00000368300.9:c.1617C>T MANE Select	ENSP00000357283.4:p.Ala539=
ENST00000496738.6:n.2076C>T
ENST00000674518.1:c.*967C>T	ENSP00000502261.1:n.*967C>T
ENST00000674600.1:c.*1416C>T	ENSP00000501666.1:n.*1416C>T
ENST00000674720.1:c.*179C>T	ENSP00000502798.1:n.*179C>T
ENST00000675431.1:n.1310C>T
ENST00000675455.1:c.*1417C>T	ENSP00000501795.1:n.*1417C>T
ENST00000675667.1:c.1617C>T	ENSP00000501803.1:p.Ala539=
ENST00000675874.1:c.*1088C>T	ENSP00000501851.1:n.*1088C>T
ENST00000675881.1:c.*628C>T	ENSP00000501670.1:n.*628C>T
ENST00000675939.1:c.1617C>T	ENSP00000502256.1:p.Ala539=
ENST00000675989.1:n.2476C>T
ENST00000676208.1:c.*720C>T	ENSP00000502468.1:n.*720C>T
ENST00000676283.1:n.2413C>T
ENST00000676385.2:c.1608+430C>T	ENSP00000502091.1:n.1608+430C>T
ENST00000676434.1:c.*628C>T	ENSP00000501648.1:n.*628C>T
ENST00000677389.1:c.1617C>T MANE Plus Clinical	ENSP00000503633.1:p.Ala539=
ENST00000347559.6:c.1608+430C>T	ENSP00000292304.3:n.1608+430C>T
ENST00000361308.8:c.1362C>T	ENSP00000355292.5:p.Ala454=
ENST00000368297.5:c.1374C>T	ENSP00000357280.1:p.Ala458=
ENST00000368299.7:c.1617C>T	ENSP00000357282.3:p.Ala539=
ENST00000368300.8:c.1617C>T	ENSP00000357283.4:p.Ala539=
ENST00000368301.6:c.1617C>T	ENSP00000357284.2:p.Ala539=
ENST00000448611.6:c.1281C>T	ENSP00000395597.2:p.Ala427=
ENST00000473598.6:c.1320C>T	ENSP00000421821.1:p.Ala440=
ENST00000496738.5:n.1086C>T
ENST00000498722.2:n.849C>T
ENST00000506981.1:n.201C>T
ENST00000508500.1:c.486+430C>T	ENSP00000424977.1:n.486+430C>T
NM_001257374.2:c.1281C>T	NP_001244303.1:p.Ala427=
NM_001282624.1:c.1374C>T	NP_001269553.1:p.Ala458=
NM_001282625.1:c.1617C>T	NP_001269554.1:p.Ala539=
NM_001282626.1:c.1617C>T	NP_001269555.1:p.Ala539=
NM_005572.3:c.1617C>T , LRG_254t1:c.1617C>T	NP_005563.1:p.Ala539=
NM_170707.3:c.1617C>T	NP_733821.1:p.Ala539=
NM_170708.3:c.1608+430C>T	NP_733822.1:n.1608+430C>T
XM_011509533.1:c.1281C>T	XP_011507835.1:p.Ala427=
XM_011509534.1:c.993C>T	XP_011507836.1:p.Ala331=
XR_921781.1:n.1906C>T
XM_011509534.2:c.993C>T	XP_011507836.1:p.Ala331=
XR_921781.2:n.1904C>T
NM_170707.4:c.1617C>T MANE Select	NP_733821.1:p.Ala539=
NM_001257374.3:c.1281C>T	NP_001244303.1:p.Ala427=
NM_001282626.2:c.1617C>T	NP_001269555.1:p.Ala539=
NM_001282624.2:c.1374C>T	NP_001269553.1:p.Ala458=
NM_001282625.2:c.1617C>T	NP_001269554.1:p.Ala539=
NM_005572.4:c.1617C>T MANE Plus Clinical	NP_005563.1:p.Ala539=
NM_170708.4:c.1608+430C>T	NP_733822.1:n.1608+430C>T