Canonical Allele Identifier: CA342827471

Gene: LMNA

Linked Data

• gnomAD v4: 1-156138659-C-A
• MyVariant Identifiers: chr1:g.156108450C>A (hg19) ; chr1:g.156138659C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000504687.7:c.1312C>A	ENSP00000426535.3:p.Arg438Ser
ENST00000682650.1:c.1780C>A	ENSP00000506904.1:p.Arg594Ser
ENST00000683032.1:c.1870C>A	ENSP00000506771.1:p.Arg624Ser
ENST00000683773.1:n.163+52C>A
ENST00000684195.1:c.*962C>A	ENSP00000508220.1:n.*962C>A
ENST00000361308.9:c.1870C>A	ENSP00000355292.6:p.Arg624Ser
ENST00000368300.9:c.1870C>A MANE Select	ENSP00000357283.4:p.Arg624Ser
ENST00000674518.1:c.*1220C>A	ENSP00000502261.1:n.*1220C>A
ENST00000674600.1:c.*1669C>A	ENSP00000501666.1:n.*1669C>A
ENST00000675455.1:c.*1670C>A	ENSP00000501795.1:n.*1670C>A
ENST00000675667.1:c.1870C>A	ENSP00000501803.1:p.Arg624Ser
ENST00000675874.1:c.*1341C>A	ENSP00000501851.1:n.*1341C>A
ENST00000675881.1:c.*881C>A	ENSP00000501670.1:n.*881C>A
ENST00000675939.1:c.1870C>A	ENSP00000502256.1:p.Arg624Ser
ENST00000675989.1:n.3473C>A
ENST00000676208.1:c.*973C>A	ENSP00000502468.1:n.*973C>A
ENST00000676385.2:c.1780C>A	ENSP00000502091.1:p.Arg594Ser
ENST00000676434.1:c.*1625C>A	ENSP00000501648.1:n.*1625C>A
ENST00000347559.6:c.1780C>A	ENSP00000292304.3:p.Arg594Ser
ENST00000368299.7:c.1818+52C>A	ENSP00000357282.3:n.1818+52C>A
ENST00000368300.8:c.1870C>A	ENSP00000357283.4:p.Arg624Ser
ENST00000448611.6:c.1534C>A	ENSP00000395597.2:p.Arg512Ser
ENST00000473598.6:c.1573C>A	ENSP00000421821.1:p.Arg525Ser
ENST00000496738.5:n.2083C>A
ENST00000506981.1:n.454C>A
ENST00000508500.1:c.658C>A	ENSP00000424977.1:p.Arg220Ser
NM_001257374.2:c.1534C>A	NP_001244303.1:p.Arg512Ser
NM_001282626.1:c.1818+52C>A	NP_001269555.1:n.1818+52C>A
NM_170707.3:c.1870C>A	NP_733821.1:p.Arg624Ser
NM_170708.3:c.1780C>A	NP_733822.1:p.Arg594Ser
XM_011509533.1:c.1534C>A	XP_011507835.1:p.Arg512Ser
XM_011509534.1:c.1246C>A	XP_011507836.1:p.Arg416Ser
XR_921781.1:n.2159C>A
XM_011509534.2:c.1246C>A	XP_011507836.1:p.Arg416Ser
XR_921781.2:n.2157C>A
NM_170707.4:c.1870C>A MANE Select	NP_733821.1:p.Arg624Ser
NM_001257374.3:c.1534C>A	NP_001244303.1:p.Arg512Ser
NM_001282626.2:c.1818+52C>A	NP_001269555.1:n.1818+52C>A
NM_170708.4:c.1780C>A	NP_733822.1:p.Arg594Ser