Canonical Allele Identifier: CA017298

Gene: LMNA

Linked Data

• ClinVar Variation Id: 14514
• ClinVar RCV Id: RCV000015609 ; RCV000057304
• dbSNP Id: rs56699480
• MyVariant Identifiers: chr1:g.156106808C>T (hg19) ; chr1:g.156137017C>T (hg38)
• PubMed: PMID:17136397

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156137017C>T , CM000663.2:g.156137017C>T	GRCh38
NC_000001.10:g.156106808C>T , CM000663.1:g.156106808C>T	GRCh37
NC_000001.9:g.154373432C>T	NCBI36
NG_008692.2:g.59445C>T , LRG_254:g.59445C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.919C>T	ENSP00000426535.3:p.Gln307Ter
ENST00000459904.2:n.725C>T
ENST00000498722.3:n.709C>T
ENST00000682650.1:c.1477C>T	ENSP00000506904.1:p.Gln493Ter
ENST00000683032.1:c.1477C>T	ENSP00000506771.1:p.Gln493Ter
ENST00000684195.1:c.1477C>T	ENSP00000508220.1:p.Gln493Ter
ENST00000361308.9:c.1477C>T	ENSP00000355292.6:p.Gln493Ter
ENST00000368300.9:c.1477C>T MANE Select	ENSP00000357283.4:p.Gln493Ter
ENST00000496738.6:n.1852C>T
ENST00000674518.1:c.*827C>T	ENSP00000502261.1:n.*827C>T
ENST00000674600.1:c.*1276C>T	ENSP00000501666.1:n.*1276C>T
ENST00000674720.1:c.*39C>T	ENSP00000502798.1:n.*39C>T
ENST00000675431.1:n.1170C>T
ENST00000675455.1:c.*1277C>T	ENSP00000501795.1:n.*1277C>T
ENST00000675667.1:c.1477C>T	ENSP00000501803.1:p.Gln493Ter
ENST00000675874.1:c.*948C>T	ENSP00000501851.1:n.*948C>T
ENST00000675881.1:c.*488C>T	ENSP00000501670.1:n.*488C>T
ENST00000675939.1:c.1477C>T	ENSP00000502256.1:p.Gln493Ter
ENST00000675989.1:n.2336C>T
ENST00000676208.1:c.*580C>T	ENSP00000502468.1:n.*580C>T
ENST00000676283.1:n.1852C>T
ENST00000676385.2:c.1477C>T	ENSP00000502091.1:p.Gln493Ter
ENST00000676434.1:c.*488C>T	ENSP00000501648.1:n.*488C>T
ENST00000677389.1:c.1477C>T MANE Plus Clinical	ENSP00000503633.1:p.Gln493Ter
ENST00000347559.6:c.1477C>T	ENSP00000292304.3:p.Gln493Ter
ENST00000361308.8:c.1312-174C>T	ENSP00000355292.5:n.1312-174C>T
ENST00000368297.5:c.1234C>T	ENSP00000357280.1:p.Gln412Ter
ENST00000368298.2:n.1225C>T
ENST00000368299.7:c.1477C>T	ENSP00000357282.3:p.Gln493Ter
ENST00000368300.8:c.1477C>T	ENSP00000357283.4:p.Gln493Ter
ENST00000368301.6:c.1477C>T	ENSP00000357284.2:p.Gln493Ter
ENST00000448611.6:c.1141C>T	ENSP00000395597.2:p.Gln381Ter
ENST00000459904.1:n.725C>T
ENST00000473598.6:c.1180C>T	ENSP00000421821.1:p.Gln394Ter
ENST00000496738.5:n.862C>T
ENST00000498722.2:n.709C>T
ENST00000508500.1:c.355C>T	ENSP00000424977.1:p.Gln119Ter
NM_001257374.2:c.1141C>T	NP_001244303.1:p.Gln381Ter
NM_001282624.1:c.1234C>T	NP_001269553.1:p.Gln412Ter
NM_001282625.1:c.1477C>T	NP_001269554.1:p.Gln493Ter
NM_001282626.1:c.1477C>T	NP_001269555.1:p.Gln493Ter
NM_005572.3:c.1477C>T , LRG_254t1:c.1477C>T	NP_005563.1:p.Gln493Ter
NM_170707.3:c.1477C>T	NP_733821.1:p.Gln493Ter
NM_170708.3:c.1477C>T	NP_733822.1:p.Gln493Ter
XM_011509533.1:c.1141C>T	XP_011507835.1:p.Gln381Ter
XM_011509534.1:c.853C>T	XP_011507836.1:p.Gln285Ter
XR_921781.1:n.1766C>T
XM_011509534.2:c.853C>T	XP_011507836.1:p.Gln285Ter
XR_921781.2:n.1764C>T
NM_170707.4:c.1477C>T MANE Select	NP_733821.1:p.Gln493Ter
NM_001257374.3:c.1141C>T	NP_001244303.1:p.Gln381Ter
NM_001282626.2:c.1477C>T	NP_001269555.1:p.Gln493Ter
NM_001282624.2:c.1234C>T	NP_001269553.1:p.Gln412Ter
NM_001282625.2:c.1477C>T	NP_001269554.1:p.Gln493Ter
NM_005572.4:c.1477C>T MANE Plus Clinical	NP_005563.1:p.Gln493Ter
NM_170708.4:c.1477C>T	NP_733822.1:p.Gln493Ter