Canonical Allele Identifier: CA342826240

Gene: LMNA

Linked Data

• ClinVar Variation Id: 854390
• ClinVar RCV Id: RCV001059431
• dbSNP Id: rs1651856057
• MyVariant Identifiers: chr1:g.156108283C>G (hg19) ; chr1:g.156138492C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156138492C>G , CM000663.2:g.156138492C>G	GRCh38
NC_000001.10:g.156108283C>G , CM000663.1:g.156108283C>G	GRCh37
NC_000001.9:g.154374907C>G	NCBI36
NG_008692.2:g.60920C>G , LRG_254:g.60920C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.1145C>G	ENSP00000426535.3:p.Ser382Cys
ENST00000682650.1:c.1613C>G	ENSP00000506904.1:p.Ser538Cys
ENST00000683032.1:c.1703C>G	ENSP00000506771.1:p.Ser568Cys
ENST00000683773.1:n.48C>G
ENST00000684195.1:c.*795C>G	ENSP00000508220.1:n.*795C>G
ENST00000361308.9:c.1703C>G	ENSP00000355292.6:p.Ser568Cys
ENST00000368300.9:c.1703C>G MANE Select	ENSP00000357283.4:p.Ser568Cys
ENST00000496738.6:n.2906C>G
ENST00000674518.1:c.*1053C>G	ENSP00000502261.1:n.*1053C>G
ENST00000674600.1:c.*1502C>G	ENSP00000501666.1:n.*1502C>G
ENST00000674720.1:c.*1009C>G	ENSP00000502798.1:n.*1009C>G
ENST00000675455.1:c.*1503C>G	ENSP00000501795.1:n.*1503C>G
ENST00000675667.1:c.1703C>G	ENSP00000501803.1:p.Ser568Cys
ENST00000675874.1:c.*1174C>G	ENSP00000501851.1:n.*1174C>G
ENST00000675881.1:c.*714C>G	ENSP00000501670.1:n.*714C>G
ENST00000675939.1:c.1703C>G	ENSP00000502256.1:p.Ser568Cys
ENST00000675989.1:n.3306C>G
ENST00000676208.1:c.*806C>G	ENSP00000502468.1:n.*806C>G
ENST00000676283.1:n.3243C>G
ENST00000676385.2:c.1613C>G	ENSP00000502091.1:p.Ser538Cys
ENST00000676434.1:c.*1458C>G	ENSP00000501648.1:n.*1458C>G
ENST00000347559.6:c.1613C>G	ENSP00000292304.3:p.Ser538Cys
ENST00000368299.7:c.1703C>G	ENSP00000357282.3:p.Ser568Cys
ENST00000368300.8:c.1703C>G	ENSP00000357283.4:p.Ser568Cys
ENST00000448611.6:c.1367C>G	ENSP00000395597.2:p.Ser456Cys
ENST00000473598.6:c.1406C>G	ENSP00000421821.1:p.Ser469Cys
ENST00000496738.5:n.1916C>G
ENST00000506981.1:n.287C>G
ENST00000508500.1:c.491C>G	ENSP00000424977.1:p.Ser164Cys
NM_001257374.2:c.1367C>G	NP_001244303.1:p.Ser456Cys
NM_001282626.1:c.1703C>G	NP_001269555.1:p.Ser568Cys
NM_170707.3:c.1703C>G	NP_733821.1:p.Ser568Cys
NM_170708.3:c.1613C>G	NP_733822.1:p.Ser538Cys
XM_011509533.1:c.1367C>G	XP_011507835.1:p.Ser456Cys
XM_011509534.1:c.1079C>G	XP_011507836.1:p.Ser360Cys
XR_921781.1:n.1992C>G
XM_011509534.2:c.1079C>G	XP_011507836.1:p.Ser360Cys
XR_921781.2:n.1990C>G
NM_170707.4:c.1703C>G MANE Select	NP_733821.1:p.Ser568Cys
NM_001257374.3:c.1367C>G	NP_001244303.1:p.Ser456Cys
NM_001282626.2:c.1703C>G	NP_001269555.1:p.Ser568Cys
NM_170708.4:c.1613C>G	NP_733822.1:p.Ser538Cys