Canonical Allele Identifier: CA342827516

Gene: LMNA

Linked Data

• MyVariant Identifiers: chr1:g.156108455C>A (hg19) ; chr1:g.156138664C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156138664C>A , CM000663.2:g.156138664C>A	GRCh38
NC_000001.10:g.156108455C>A , CM000663.1:g.156108455C>A	GRCh37
NC_000001.9:g.154375079C>A	NCBI36
NG_008692.2:g.61092C>A , LRG_254:g.61092C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000504687.7:c.1317C>A	ENSP00000426535.3:p.Ser439Arg
ENST00000682650.1:c.1785C>A	ENSP00000506904.1:p.Ser595Arg
ENST00000683032.1:c.1875C>A	ENSP00000506771.1:p.Ser625Arg
ENST00000683773.1:n.163+57C>A
ENST00000684195.1:c.*967C>A	ENSP00000508220.1:n.*967C>A
ENST00000361308.9:c.1875C>A	ENSP00000355292.6:p.Ser625Arg
ENST00000368300.9:c.1875C>A MANE Select	ENSP00000357283.4:p.Ser625Arg
ENST00000674518.1:c.*1225C>A	ENSP00000502261.1:n.*1225C>A
ENST00000674600.1:c.*1674C>A	ENSP00000501666.1:n.*1674C>A
ENST00000675455.1:c.*1675C>A	ENSP00000501795.1:n.*1675C>A
ENST00000675667.1:c.1875C>A	ENSP00000501803.1:p.Ser625Arg
ENST00000675874.1:c.*1346C>A	ENSP00000501851.1:n.*1346C>A
ENST00000675881.1:c.*886C>A	ENSP00000501670.1:n.*886C>A
ENST00000675939.1:c.1875C>A	ENSP00000502256.1:p.Ser625Arg
ENST00000675989.1:n.3478C>A
ENST00000676208.1:c.*978C>A	ENSP00000502468.1:n.*978C>A
ENST00000676385.2:c.1785C>A	ENSP00000502091.1:p.Ser595Arg
ENST00000676434.1:c.*1630C>A	ENSP00000501648.1:n.*1630C>A
ENST00000347559.6:c.1785C>A	ENSP00000292304.3:p.Ser595Arg
ENST00000368299.7:c.1818+57C>A	ENSP00000357282.3:n.1818+57C>A
ENST00000368300.8:c.1875C>A	ENSP00000357283.4:p.Ser625Arg
ENST00000448611.6:c.1539C>A	ENSP00000395597.2:p.Ser513Arg
ENST00000473598.6:c.1578C>A	ENSP00000421821.1:p.Ser526Arg
ENST00000496738.5:n.2088C>A
ENST00000506981.1:n.459C>A
ENST00000508500.1:c.663C>A	ENSP00000424977.1:p.Ser221Arg
NM_001257374.2:c.1539C>A	NP_001244303.1:p.Ser513Arg
NM_001282626.1:c.1818+57C>A	NP_001269555.1:n.1818+57C>A
NM_170707.3:c.1875C>A	NP_733821.1:p.Ser625Arg
NM_170708.3:c.1785C>A	NP_733822.1:p.Ser595Arg
XM_011509533.1:c.1539C>A	XP_011507835.1:p.Ser513Arg
XM_011509534.1:c.1251C>A	XP_011507836.1:p.Ser417Arg
XR_921781.1:n.2164C>A
XM_011509534.2:c.1251C>A	XP_011507836.1:p.Ser417Arg
XR_921781.2:n.2162C>A
NM_170707.4:c.1875C>A MANE Select	NP_733821.1:p.Ser625Arg
NM_001257374.3:c.1539C>A	NP_001244303.1:p.Ser513Arg
NM_001282626.2:c.1818+57C>A	NP_001269555.1:n.1818+57C>A
NM_170708.4:c.1785C>A	NP_733822.1:p.Ser595Arg