Canonical Allele Identifier: CA051434

Gene: LMNA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156138651C>T , CM000663.2:g.156138651C>T	GRCh38
NC_000001.10:g.156108442C>T , CM000663.1:g.156108442C>T	GRCh37
NC_000001.9:g.154375066C>T	NCBI36
NG_008692.2:g.61079C>T , LRG_254:g.61079C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_170707.4:c.1862C>T MANE Select	NP_733821.1:p.Thr621Met
ENST00000368300.9:c.1862C>T MANE Select	ENSP00000357283.4:p.Thr621Met
NM_001257374.2:c.1526C>T	NP_001244303.1:p.Thr509Met
NM_001257374.3:c.1526C>T	NP_001244303.1:p.Thr509Met
NM_001282626.1:c.1818+44C>T	NP_001269555.1:n.1818+44C>T
NM_001282626.2:c.1818+44C>T	NP_001269555.1:n.1818+44C>T
NM_170707.3:c.1862C>T	NP_733821.1:p.Thr621Met
NM_170708.3:c.1772C>T	NP_733822.1:p.Thr591Met
NM_170708.4:c.1772C>T	NP_733822.1:p.Thr591Met
ENST00000347559.6:c.1772C>T	ENSP00000292304.3:p.Thr591Met
ENST00000361308.9:c.1862C>T	ENSP00000355292.6:p.Thr621Met
ENST00000368299.7:c.1818+44C>T	ENSP00000357282.3:n.1818+44C>T
ENST00000368300.8:c.1862C>T	ENSP00000357283.4:p.Thr621Met
ENST00000448611.6:c.1526C>T	ENSP00000395597.2:p.Thr509Met
ENST00000473598.6:c.1565C>T	ENSP00000421821.1:p.Thr522Met
ENST00000496738.5:n.2075C>T
ENST00000504687.7:c.1304C>T	ENSP00000426535.3:p.Thr435Met
ENST00000506981.1:n.446C>T
ENST00000508500.1:c.650C>T	ENSP00000424977.1:p.Thr217Met
ENST00000674518.1:c.*1212C>T	ENSP00000502261.1:n.*1212C>T
ENST00000674600.1:c.*1661C>T	ENSP00000501666.1:n.*1661C>T
ENST00000675455.1:c.*1662C>T	ENSP00000501795.1:n.*1662C>T
ENST00000675667.1:c.1862C>T	ENSP00000501803.1:p.Thr621Met
ENST00000675874.1:c.*1333C>T	ENSP00000501851.1:n.*1333C>T
ENST00000675881.1:c.*873C>T	ENSP00000501670.1:n.*873C>T
ENST00000675939.1:c.1862C>T	ENSP00000502256.1:p.Thr621Met
ENST00000675989.1:n.3465C>T
ENST00000676208.1:c.*965C>T	ENSP00000502468.1:n.*965C>T
ENST00000676385.2:c.1772C>T	ENSP00000502091.1:p.Thr591Met
ENST00000676434.1:c.*1617C>T	ENSP00000501648.1:n.*1617C>T
ENST00000682650.1:c.1772C>T	ENSP00000506904.1:p.Thr591Met
ENST00000683032.1:c.1862C>T	ENSP00000506771.1:p.Thr621Met
ENST00000683773.1:n.163+44C>T
ENST00000684195.1:c.*954C>T	ENSP00000508220.1:n.*954C>T
XM_011509533.1:c.1526C>T	XP_011507835.1:p.Thr509Met
XM_011509534.1:c.1238C>T	XP_011507836.1:p.Thr413Met
XM_011509534.2:c.1238C>T	XP_011507836.1:p.Thr413Met
XR_921781.1:n.2151C>T
XR_921781.2:n.2149C>T