Canonical Allele Identifier: CA016983

Gene: LMNA

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156136360_156136363dup , CM000663.2:g.156136360_156136363dup	GRCh38
NC_000001.10:g.156106151_156106154dup , CM000663.1:g.156106151_156106154dup	GRCh37
NC_000001.9:g.154372775_154372778dup	NCBI36
NG_008692.2:g.58788_58791dup , LRG_254:g.58788_58791dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.746_749dup	ENSP00000426535.3:p.Ser251HisfsTer2
ENST00000459904.2:n.68_71dup
ENST00000498722.3:n.536_539dup
ENST00000682650.1:c.1304_1307dup	ENSP00000506904.1:p.Ser437HisfsTer2
ENST00000683032.1:c.1304_1307dup	ENSP00000506771.1:p.Ser437HisfsTer2
ENST00000684195.1:c.1304_1307dup	ENSP00000508220.1:p.Ser437HisfsTer2
ENST00000361308.9:c.1304_1307dup	ENSP00000355292.6:p.Ser437HisfsTer2
ENST00000368300.9:c.1304_1307dup MANE Select	ENSP00000357283.4:p.Ser437HisfsTer2
ENST00000496738.6:n.1679_1682dup
ENST00000674518.1:c.*654_*657dup	ENSP00000502261.1:n.*654_*657dup
ENST00000674600.1:c.*1103_*1106dup	ENSP00000501666.1:n.*1103_*1106dup
ENST00000674720.1:c.1304_1307dup	ENSP00000502798.1:p.Ser437HisfsTer2
ENST00000675431.1:n.997_1000dup
ENST00000675455.1:c.*1104_*1107dup	ENSP00000501795.1:n.*1104_*1107dup
ENST00000675667.1:c.1304_1307dup	ENSP00000501803.1:p.Ser437HisfsTer2
ENST00000675874.1:c.*775_*778dup	ENSP00000501851.1:n.*775_*778dup
ENST00000675881.1:c.*315_*318dup	ENSP00000501670.1:n.*315_*318dup
ENST00000675939.1:c.1304_1307dup	ENSP00000502256.1:p.Ser437HisfsTer2
ENST00000675989.1:n.1679_1682dup
ENST00000676208.1:c.*407_*410dup	ENSP00000502468.1:n.*407_*410dup
ENST00000676283.1:n.1679_1682dup
ENST00000676385.2:c.1304_1307dup	ENSP00000502091.1:p.Ser437HisfsTer2
ENST00000676434.1:c.*315_*318dup	ENSP00000501648.1:n.*315_*318dup
ENST00000677389.1:c.1304_1307dup MANE Plus Clinical	ENSP00000503633.1:p.Ser437HisfsTer2
ENST00000347559.6:c.1304_1307dup	ENSP00000292304.3:p.Ser437HisfsTer2
ENST00000361308.8:c.1304_1307dup	ENSP00000355292.5:p.Ser437HisfsTer2
ENST00000368297.5:c.1061_1064dup	ENSP00000357280.1:p.Ser356HisfsTer2
ENST00000368298.2:n.568_571dup
ENST00000368299.7:c.1304_1307dup	ENSP00000357282.3:p.Ser437HisfsTer2
ENST00000368300.8:c.1304_1307dup	ENSP00000357283.4:p.Ser437HisfsTer2
ENST00000368301.6:c.1304_1307dup	ENSP00000357284.2:p.Ser437HisfsTer2
ENST00000448611.6:c.968_971dup	ENSP00000395597.2:p.Ser325HisfsTer2
ENST00000459904.1:n.68_71dup
ENST00000473598.6:c.1007_1010dup	ENSP00000421821.1:p.Ser338HisfsTer2
ENST00000496738.5:n.689_692dup
ENST00000498722.2:n.536_539dup
ENST00000508500.1:c.182_185dup	ENSP00000424977.1:p.Ser63HisfsTer2
NM_001257374.2:c.968_971dup	NP_001244303.1:p.Ser325HisfsTer2
NM_001282624.1:c.1061_1064dup	NP_001269553.1:p.Ser356HisfsTer2
NM_001282625.1:c.1304_1307dup	NP_001269554.1:p.Ser437HisfsTer2
NM_001282626.1:c.1304_1307dup	NP_001269555.1:p.Ser437HisfsTer2
NM_005572.3:c.1304_1307dup , LRG_254t1:c.1304_1307dup	NP_005563.1:p.Ser437HisfsTer2
NM_170707.3:c.1304_1307dup	NP_733821.1:p.Ser437HisfsTer2
NM_170708.3:c.1304_1307dup	NP_733822.1:p.Ser437HisfsTer2
XM_011509533.1:c.968_971dup	XP_011507835.1:p.Ser325HisfsTer2
XM_011509534.1:c.680_683dup	XP_011507836.1:p.Ser229HisfsTer2
XR_921781.1:n.1593_1596dup
XM_011509534.2:c.680_683dup	XP_011507836.1:p.Ser229HisfsTer2
XR_921781.2:n.1591_1594dup
NM_170707.4:c.1304_1307dup MANE Select	NP_733821.1:p.Ser437HisfsTer2
NM_001257374.3:c.968_971dup	NP_001244303.1:p.Ser325HisfsTer2
NM_001282626.2:c.1304_1307dup	NP_001269555.1:p.Ser437HisfsTer2
NM_001282624.2:c.1061_1064dup	NP_001269553.1:p.Ser356HisfsTer2
NM_001282625.2:c.1304_1307dup	NP_001269554.1:p.Ser437HisfsTer2
NM_005572.4:c.1304_1307dup MANE Plus Clinical	NP_005563.1:p.Ser437HisfsTer2
NM_170708.4:c.1304_1307dup	NP_733822.1:p.Ser437HisfsTer2