Canonical Allele Identifier: CA31015365

Gene: LMNA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156138533C>T , CM000663.2:g.156138533C>T	GRCh38
NC_000001.10:g.156108324C>T , CM000663.1:g.156108324C>T	GRCh37
NC_000001.9:g.154374948C>T	NCBI36
NG_008692.2:g.60961C>T , LRG_254:g.60961C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_170707.4:c.1744C>T MANE Select	NP_733821.1:p.Arg582Cys
ENST00000368300.9:c.1744C>T MANE Select	ENSP00000357283.4:p.Arg582Cys
NM_001257374.2:c.1408C>T	NP_001244303.1:p.Arg470Cys
NM_001257374.3:c.1408C>T	NP_001244303.1:p.Arg470Cys
NM_001282626.1:c.1744C>T	NP_001269555.1:p.Arg582Cys
NM_001282626.2:c.1744C>T	NP_001269555.1:p.Arg582Cys
NM_170707.3:c.1744C>T	NP_733821.1:p.Arg582Cys
NM_170708.3:c.1654C>T	NP_733822.1:p.Arg552Cys
NM_170708.4:c.1654C>T	NP_733822.1:p.Arg552Cys
ENST00000347559.6:c.1654C>T	ENSP00000292304.3:p.Arg552Cys
ENST00000361308.9:c.1744C>T	ENSP00000355292.6:p.Arg582Cys
ENST00000368299.7:c.1744C>T	ENSP00000357282.3:p.Arg582Cys
ENST00000368300.8:c.1744C>T	ENSP00000357283.4:p.Arg582Cys
ENST00000448611.6:c.1408C>T	ENSP00000395597.2:p.Arg470Cys
ENST00000473598.6:c.1447C>T	ENSP00000421821.1:p.Arg483Cys
ENST00000496738.5:n.1957C>T
ENST00000496738.6:n.2947C>T
ENST00000504687.7:c.1186C>T	ENSP00000426535.3:p.Arg396Cys
ENST00000506981.1:n.328C>T
ENST00000508500.1:c.532C>T	ENSP00000424977.1:p.Arg178Cys
ENST00000674518.1:c.*1094C>T	ENSP00000502261.1:n.*1094C>T
ENST00000674600.1:c.*1543C>T	ENSP00000501666.1:n.*1543C>T
ENST00000674720.1:c.*1050C>T	ENSP00000502798.1:n.*1050C>T
ENST00000675455.1:c.*1544C>T	ENSP00000501795.1:n.*1544C>T
ENST00000675667.1:c.1744C>T	ENSP00000501803.1:p.Arg582Cys
ENST00000675874.1:c.*1215C>T	ENSP00000501851.1:n.*1215C>T
ENST00000675881.1:c.*755C>T	ENSP00000501670.1:n.*755C>T
ENST00000675939.1:c.1744C>T	ENSP00000502256.1:p.Arg582Cys
ENST00000675989.1:n.3347C>T
ENST00000676208.1:c.*847C>T	ENSP00000502468.1:n.*847C>T
ENST00000676283.1:n.3284C>T
ENST00000676385.2:c.1654C>T	ENSP00000502091.1:p.Arg552Cys
ENST00000676434.1:c.*1499C>T	ENSP00000501648.1:n.*1499C>T
ENST00000682650.1:c.1654C>T	ENSP00000506904.1:p.Arg552Cys
ENST00000683032.1:c.1744C>T	ENSP00000506771.1:p.Arg582Cys
ENST00000683773.1:n.89C>T
ENST00000684195.1:c.*836C>T	ENSP00000508220.1:n.*836C>T
XM_011509533.1:c.1408C>T	XP_011507835.1:p.Arg470Cys
XM_011509534.1:c.1120C>T	XP_011507836.1:p.Arg374Cys
XM_011509534.2:c.1120C>T	XP_011507836.1:p.Arg374Cys
XR_921781.1:n.2033C>T
XR_921781.2:n.2031C>T