Canonical Allele Identifier: CA342828098

Gene: LMNA

Linked Data

• MyVariant Identifiers: chr1:g.156108522C>G (hg19) ; chr1:g.156138731C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156138731C>G , CM000663.2:g.156138731C>G	GRCh38
NC_000001.10:g.156108522C>G , CM000663.1:g.156108522C>G	GRCh37
NC_000001.9:g.154375146C>G	NCBI36
NG_008692.2:g.61159C>G , LRG_254:g.61159C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000504687.7:c.1384C>G	ENSP00000426535.3:p.Leu462Val
ENST00000682650.1:c.1852C>G	ENSP00000506904.1:p.Leu618Val
ENST00000683032.1:c.1942C>G	ENSP00000506771.1:p.Leu648Val
ENST00000683773.1:n.163+124C>G
ENST00000684195.1:c.*1034C>G	ENSP00000508220.1:n.*1034C>G
ENST00000361308.9:c.1942C>G	ENSP00000355292.6:p.Leu648Val
ENST00000368300.9:c.1942C>G MANE Select	ENSP00000357283.4:p.Leu648Val
ENST00000674518.1:c.*1292C>G	ENSP00000502261.1:n.*1292C>G
ENST00000674600.1:c.*1741C>G	ENSP00000501666.1:n.*1741C>G
ENST00000675455.1:c.*1742C>G	ENSP00000501795.1:n.*1742C>G
ENST00000675667.1:c.1942C>G	ENSP00000501803.1:p.Leu648Val
ENST00000675874.1:c.*1413C>G	ENSP00000501851.1:n.*1413C>G
ENST00000675881.1:c.*953C>G	ENSP00000501670.1:n.*953C>G
ENST00000675939.1:c.1942C>G	ENSP00000502256.1:p.Leu648Val
ENST00000675989.1:n.3545C>G
ENST00000676208.1:c.*1045C>G	ENSP00000502468.1:n.*1045C>G
ENST00000676385.2:c.1852C>G	ENSP00000502091.1:p.Leu618Val
ENST00000676434.1:c.*1697C>G	ENSP00000501648.1:n.*1697C>G
ENST00000347559.6:c.1852C>G	ENSP00000292304.3:p.Leu618Val
ENST00000368299.7:c.1818+124C>G	ENSP00000357282.3:n.1818+124C>G
ENST00000368300.8:c.1942C>G	ENSP00000357283.4:p.Leu648Val
ENST00000448611.6:c.1606C>G	ENSP00000395597.2:p.Leu536Val
ENST00000473598.6:c.1645C>G	ENSP00000421821.1:p.Leu549Val
ENST00000496738.5:n.2155C>G
ENST00000506981.1:n.526C>G
ENST00000508500.1:c.730C>G	ENSP00000424977.1:p.Leu244Val
NM_001257374.2:c.1606C>G	NP_001244303.1:p.Leu536Val
NM_001282626.1:c.1818+124C>G	NP_001269555.1:n.1818+124C>G
NM_170707.3:c.1942C>G	NP_733821.1:p.Leu648Val
NM_170708.3:c.1852C>G	NP_733822.1:p.Leu618Val
XM_011509533.1:c.1606C>G	XP_011507835.1:p.Leu536Val
XM_011509534.1:c.1318C>G	XP_011507836.1:p.Leu440Val
XR_921781.1:n.2231C>G
XM_011509534.2:c.1318C>G	XP_011507836.1:p.Leu440Val
XR_921781.2:n.2229C>G
NM_170707.4:c.1942C>G MANE Select	NP_733821.1:p.Leu648Val
NM_001257374.3:c.1606C>G	NP_001244303.1:p.Leu536Val
NM_001282626.2:c.1818+124C>G	NP_001269555.1:n.1818+124C>G
NM_170708.4:c.1852C>G	NP_733822.1:p.Leu618Val