Canonical Allele Identifier: CA342827474

Gene: LMNA

Linked Data

• MyVariant Identifiers: chr1:g.156108450C>G (hg19) ; chr1:g.156138659C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156138659C>G , CM000663.2:g.156138659C>G	GRCh38
NC_000001.10:g.156108450C>G , CM000663.1:g.156108450C>G	GRCh37
NC_000001.9:g.154375074C>G	NCBI36
NG_008692.2:g.61087C>G , LRG_254:g.61087C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000504687.7:c.1312C>G	ENSP00000426535.3:p.Arg438Gly
ENST00000682650.1:c.1780C>G	ENSP00000506904.1:p.Arg594Gly
ENST00000683032.1:c.1870C>G	ENSP00000506771.1:p.Arg624Gly
ENST00000683773.1:n.163+52C>G
ENST00000684195.1:c.*962C>G	ENSP00000508220.1:n.*962C>G
ENST00000361308.9:c.1870C>G	ENSP00000355292.6:p.Arg624Gly
ENST00000368300.9:c.1870C>G MANE Select	ENSP00000357283.4:p.Arg624Gly
ENST00000674518.1:c.*1220C>G	ENSP00000502261.1:n.*1220C>G
ENST00000674600.1:c.*1669C>G	ENSP00000501666.1:n.*1669C>G
ENST00000675455.1:c.*1670C>G	ENSP00000501795.1:n.*1670C>G
ENST00000675667.1:c.1870C>G	ENSP00000501803.1:p.Arg624Gly
ENST00000675874.1:c.*1341C>G	ENSP00000501851.1:n.*1341C>G
ENST00000675881.1:c.*881C>G	ENSP00000501670.1:n.*881C>G
ENST00000675939.1:c.1870C>G	ENSP00000502256.1:p.Arg624Gly
ENST00000675989.1:n.3473C>G
ENST00000676208.1:c.*973C>G	ENSP00000502468.1:n.*973C>G
ENST00000676385.2:c.1780C>G	ENSP00000502091.1:p.Arg594Gly
ENST00000676434.1:c.*1625C>G	ENSP00000501648.1:n.*1625C>G
ENST00000347559.6:c.1780C>G	ENSP00000292304.3:p.Arg594Gly
ENST00000368299.7:c.1818+52C>G	ENSP00000357282.3:n.1818+52C>G
ENST00000368300.8:c.1870C>G	ENSP00000357283.4:p.Arg624Gly
ENST00000448611.6:c.1534C>G	ENSP00000395597.2:p.Arg512Gly
ENST00000473598.6:c.1573C>G	ENSP00000421821.1:p.Arg525Gly
ENST00000496738.5:n.2083C>G
ENST00000506981.1:n.454C>G
ENST00000508500.1:c.658C>G	ENSP00000424977.1:p.Arg220Gly
NM_001257374.2:c.1534C>G	NP_001244303.1:p.Arg512Gly
NM_001282626.1:c.1818+52C>G	NP_001269555.1:n.1818+52C>G
NM_170707.3:c.1870C>G	NP_733821.1:p.Arg624Gly
NM_170708.3:c.1780C>G	NP_733822.1:p.Arg594Gly
XM_011509533.1:c.1534C>G	XP_011507835.1:p.Arg512Gly
XM_011509534.1:c.1246C>G	XP_011507836.1:p.Arg416Gly
XR_921781.1:n.2159C>G
XM_011509534.2:c.1246C>G	XP_011507836.1:p.Arg416Gly
XR_921781.2:n.2157C>G
NM_170707.4:c.1870C>G MANE Select	NP_733821.1:p.Arg624Gly
NM_001257374.3:c.1534C>G	NP_001244303.1:p.Arg512Gly
NM_001282626.2:c.1818+52C>G	NP_001269555.1:n.1818+52C>G
NM_170708.4:c.1780C>G	NP_733822.1:p.Arg594Gly