Canonical Allele Identifier: CA1139656351

Gene: LMNA

Linked Data

• ClinVar Variation Id: 920663
• ClinVar RCV Id: RCV001179519
• dbSNP Id: rs1651858164

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156138536_156138539dup , CM000663.2:g.156138536_156138539dup	GRCh38
NC_000001.10:g.156108327_156108330dup , CM000663.1:g.156108327_156108330dup	GRCh37
NC_000001.9:g.154374951_154374954dup	NCBI36
NG_008692.2:g.60964_60967dup , LRG_254:g.60964_60967dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.1189_1192dup	ENSP00000426535.3:p.Arg398LeufsTer?
ENST00000682650.1:c.1657_1660dup	ENSP00000506904.1:p.Arg554LeufsTer?
ENST00000683032.1:c.1747_1750dup	ENSP00000506771.1:p.Arg584LeufsTer?
ENST00000683773.1:n.92_95dup
ENST00000684195.1:c.*839_*842dup	ENSP00000508220.1:n.*839_*842dup
ENST00000361308.9:c.1747_1750dup	ENSP00000355292.6:p.Arg584LeufsTer?
ENST00000368300.9:c.1747_1750dup MANE Select	ENSP00000357283.4:p.Arg584LeufsTer?
ENST00000496738.6:n.2950_2953dup
ENST00000674518.1:c.*1097_*1100dup	ENSP00000502261.1:n.*1097_*1100dup
ENST00000674600.1:c.*1546_*1549dup	ENSP00000501666.1:n.*1546_*1549dup
ENST00000674720.1:c.*1053_*1056dup	ENSP00000502798.1:n.*1053_*1056dup
ENST00000675455.1:c.*1547_*1550dup	ENSP00000501795.1:n.*1547_*1550dup
ENST00000675667.1:c.1747_1750dup	ENSP00000501803.1:p.Arg584LeufsTer?
ENST00000675874.1:c.*1218_*1221dup	ENSP00000501851.1:n.*1218_*1221dup
ENST00000675881.1:c.*758_*761dup	ENSP00000501670.1:n.*758_*761dup
ENST00000675939.1:c.1747_1750dup	ENSP00000502256.1:p.Arg584LeufsTer?
ENST00000675989.1:n.3350_3353dup
ENST00000676208.1:c.*850_*853dup	ENSP00000502468.1:n.*850_*853dup
ENST00000676283.1:n.3287_3290dup
ENST00000676385.2:c.1657_1660dup	ENSP00000502091.1:p.Arg554LeufsTer?
ENST00000676434.1:c.*1502_*1505dup	ENSP00000501648.1:n.*1502_*1505dup
ENST00000347559.6:c.1657_1660dup	ENSP00000292304.3:p.Arg554LeufsTer?
ENST00000368299.7:c.1747_1750dup	ENSP00000357282.3:p.Arg584LeufsTer?
ENST00000368300.8:c.1747_1750dup	ENSP00000357283.4:p.Arg584LeufsTer?
ENST00000448611.6:c.1411_1414dup	ENSP00000395597.2:p.Arg472LeufsTer?
ENST00000473598.6:c.1450_1453dup	ENSP00000421821.1:p.Arg485LeufsTer?
ENST00000496738.5:n.1960_1963dup
ENST00000506981.1:n.331_334dup
ENST00000508500.1:c.535_538dup	ENSP00000424977.1:p.Arg180LeufsTer?
NM_001257374.2:c.1411_1414dup	NP_001244303.1:p.Arg472LeufsTer?
NM_001282626.1:c.1747_1750dup	NP_001269555.1:p.Arg584LeufsTer?
NM_170707.3:c.1747_1750dup	NP_733821.1:p.Arg584LeufsTer?
NM_170708.3:c.1657_1660dup	NP_733822.1:p.Arg554LeufsTer?
XM_011509533.1:c.1411_1414dup	XP_011507835.1:p.Arg472LeufsTer?
XM_011509534.1:c.1123_1126dup	XP_011507836.1:p.Arg376LeufsTer?
XR_921781.1:n.2036_2039dup
XM_011509534.2:c.1123_1126dup	XP_011507836.1:p.Arg376LeufsTer?
XR_921781.2:n.2034_2037dup
NM_170707.4:c.1747_1750dup MANE Select	NP_733821.1:p.Arg584LeufsTer?
NM_001257374.3:c.1411_1414dup	NP_001244303.1:p.Arg472LeufsTer?
NM_001282626.2:c.1747_1750dup	NP_001269555.1:p.Arg584LeufsTer?
NM_170708.4:c.1657_1660dup	NP_733822.1:p.Arg554LeufsTer?