Canonical Allele Identifier: CA015291

Gene: LMNA

Linked Data

• ClinVar Variation Id: 14500
• ClinVar RCV Id: RCV000015593 ; RCV000057364 ; RCV000150957 ; RCV000806737 ; RCV001847608
• dbSNP Id: rs58596362
• MyVariant Identifiers: chr1:g.156108404C>T (hg19) ; chr1:g.156138613C>T (hg38)
• PubMed: PMID:12702809 ; PMID:12714972 ; PMID:12768443 ; PMID:15032975 ; PMID:15184648 ; PMID:15317753 ; PMID:15342704 ; PMID:15793835 ; PMID:16126733 ; PMID:16738054 ; PMID:17076270 ; PMID:17469202 ; PMID:19172989 ; PMID:20301300 ; PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156138613C>T , CM000663.2:g.156138613C>T	GRCh38
NC_000001.10:g.156108404C>T , CM000663.1:g.156108404C>T	GRCh37
NC_000001.9:g.154375028C>T	NCBI36
NG_008692.2:g.61041C>T , LRG_254:g.61041C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.1266C>T	ENSP00000426535.3:p.Gly422=
ENST00000682650.1:c.1734C>T	ENSP00000506904.1:p.Gly578=
ENST00000683032.1:c.1824C>T	ENSP00000506771.1:p.Gly608=
ENST00000683773.1:n.163+6C>T
ENST00000684195.1:c.*916C>T	ENSP00000508220.1:n.*916C>T
ENST00000361308.9:c.1824C>T	ENSP00000355292.6:p.Gly608=
ENST00000368300.9:c.1824C>T MANE Select	ENSP00000357283.4:p.Gly608=
ENST00000674518.1:c.*1174C>T	ENSP00000502261.1:n.*1174C>T
ENST00000674600.1:c.*1623C>T	ENSP00000501666.1:n.*1623C>T
ENST00000675455.1:c.*1624C>T	ENSP00000501795.1:n.*1624C>T
ENST00000675667.1:c.1824C>T	ENSP00000501803.1:p.Gly608=
ENST00000675874.1:c.*1295C>T	ENSP00000501851.1:n.*1295C>T
ENST00000675881.1:c.*835C>T	ENSP00000501670.1:n.*835C>T
ENST00000675939.1:c.1824C>T	ENSP00000502256.1:p.Gly608=
ENST00000675989.1:n.3427C>T
ENST00000676208.1:c.*927C>T	ENSP00000502468.1:n.*927C>T
ENST00000676385.2:c.1734C>T	ENSP00000502091.1:p.Gly578=
ENST00000676434.1:c.*1579C>T	ENSP00000501648.1:n.*1579C>T
ENST00000347559.6:c.1734C>T	ENSP00000292304.3:p.Gly578=
ENST00000368299.7:c.1818+6C>T	ENSP00000357282.3:n.1818+6C>T
ENST00000368300.8:c.1824C>T	ENSP00000357283.4:p.Gly608=
ENST00000448611.6:c.1488C>T	ENSP00000395597.2:p.Gly496=
ENST00000473598.6:c.1527C>T	ENSP00000421821.1:p.Gly509=
ENST00000496738.5:n.2037C>T
ENST00000506981.1:n.408C>T
ENST00000508500.1:c.612C>T	ENSP00000424977.1:p.Gly204=
NM_001257374.2:c.1488C>T	NP_001244303.1:p.Gly496=
NM_001282626.1:c.1818+6C>T	NP_001269555.1:n.1818+6C>T
NM_170707.3:c.1824C>T	NP_733821.1:p.Gly608=
NM_170708.3:c.1734C>T	NP_733822.1:p.Gly578=
XM_011509533.1:c.1488C>T	XP_011507835.1:p.Gly496=
XM_011509534.1:c.1200C>T	XP_011507836.1:p.Gly400=
XR_921781.1:n.2113C>T
XM_011509534.2:c.1200C>T	XP_011507836.1:p.Gly400=
XR_921781.2:n.2111C>T
NM_170707.4:c.1824C>T MANE Select	NP_733821.1:p.Gly608=
NM_001257374.3:c.1488C>T	NP_001244303.1:p.Gly496=
NM_001282626.2:c.1818+6C>T	NP_001269555.1:n.1818+6C>T
NM_170708.4:c.1734C>T	NP_733822.1:p.Gly578=