Canonical Allele Identifier: CA342826270

Gene: LMNA

Linked Data

• MyVariant Identifiers: chr1:g.156108287C>G (hg19) ; chr1:g.156138496C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156138496C>G , CM000663.2:g.156138496C>G	GRCh38
NC_000001.10:g.156108287C>G , CM000663.1:g.156108287C>G	GRCh37
NC_000001.9:g.154374911C>G	NCBI36
NG_008692.2:g.60924C>G , LRG_254:g.60924C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.1149C>G	ENSP00000426535.3:p.His383Gln
ENST00000682650.1:c.1617C>G	ENSP00000506904.1:p.His539Gln
ENST00000683032.1:c.1707C>G	ENSP00000506771.1:p.His569Gln
ENST00000683773.1:n.52C>G
ENST00000684195.1:c.*799C>G	ENSP00000508220.1:n.*799C>G
ENST00000361308.9:c.1707C>G	ENSP00000355292.6:p.His569Gln
ENST00000368300.9:c.1707C>G MANE Select	ENSP00000357283.4:p.His569Gln
ENST00000496738.6:n.2910C>G
ENST00000674518.1:c.*1057C>G	ENSP00000502261.1:n.*1057C>G
ENST00000674600.1:c.*1506C>G	ENSP00000501666.1:n.*1506C>G
ENST00000674720.1:c.*1013C>G	ENSP00000502798.1:n.*1013C>G
ENST00000675455.1:c.*1507C>G	ENSP00000501795.1:n.*1507C>G
ENST00000675667.1:c.1707C>G	ENSP00000501803.1:p.His569Gln
ENST00000675874.1:c.*1178C>G	ENSP00000501851.1:n.*1178C>G
ENST00000675881.1:c.*718C>G	ENSP00000501670.1:n.*718C>G
ENST00000675939.1:c.1707C>G	ENSP00000502256.1:p.His569Gln
ENST00000675989.1:n.3310C>G
ENST00000676208.1:c.*810C>G	ENSP00000502468.1:n.*810C>G
ENST00000676283.1:n.3247C>G
ENST00000676385.2:c.1617C>G	ENSP00000502091.1:p.His539Gln
ENST00000676434.1:c.*1462C>G	ENSP00000501648.1:n.*1462C>G
ENST00000347559.6:c.1617C>G	ENSP00000292304.3:p.His539Gln
ENST00000368299.7:c.1707C>G	ENSP00000357282.3:p.His569Gln
ENST00000368300.8:c.1707C>G	ENSP00000357283.4:p.His569Gln
ENST00000448611.6:c.1371C>G	ENSP00000395597.2:p.His457Gln
ENST00000473598.6:c.1410C>G	ENSP00000421821.1:p.His470Gln
ENST00000496738.5:n.1920C>G
ENST00000506981.1:n.291C>G
ENST00000508500.1:c.495C>G	ENSP00000424977.1:p.His165Gln
NM_001257374.2:c.1371C>G	NP_001244303.1:p.His457Gln
NM_001282626.1:c.1707C>G	NP_001269555.1:p.His569Gln
NM_170707.3:c.1707C>G	NP_733821.1:p.His569Gln
NM_170708.3:c.1617C>G	NP_733822.1:p.His539Gln
XM_011509533.1:c.1371C>G	XP_011507835.1:p.His457Gln
XM_011509534.1:c.1083C>G	XP_011507836.1:p.His361Gln
XR_921781.1:n.1996C>G
XM_011509534.2:c.1083C>G	XP_011507836.1:p.His361Gln
XR_921781.2:n.1994C>G
NM_170707.4:c.1707C>G MANE Select	NP_733821.1:p.His569Gln
NM_001257374.3:c.1371C>G	NP_001244303.1:p.His457Gln
NM_001282626.2:c.1707C>G	NP_001269555.1:p.His569Gln
NM_170708.4:c.1617C>G	NP_733822.1:p.His539Gln