Canonical Allele Identifier: CA31011385

Gene: LMNA

Linked Data

• ClinVar Variation Id: 918435
• ClinVar RCV Id: RCV001176008 ; RCV001426917 ; RCV002365834
• dbSNP Id: rs964377328
• gnomAD v2: 1-156104634-G-A
• gnomAD v3: 1-156134843-G-A
• gnomAD v4: 1-156134843-G-A
• MyVariant Identifiers: chr1:g.156104634G>A (hg19) ; chr1:g.156134843G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156134843G>A , CM000663.2:g.156134843G>A	GRCh38
NC_000001.10:g.156104634G>A , CM000663.1:g.156104634G>A	GRCh37
NC_000001.9:g.154371258G>A	NCBI36
NG_008692.2:g.57271G>A , LRG_254:g.57271G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000504687.7:c.120G>A	ENSP00000426535.3:p.Leu40=
ENST00000682650.1:c.678G>A	ENSP00000506904.1:p.Leu226=
ENST00000683032.1:c.678G>A	ENSP00000506771.1:p.Leu226=
ENST00000684195.1:c.678G>A	ENSP00000508220.1:p.Leu226=
ENST00000361308.9:c.678G>A	ENSP00000355292.6:p.Leu226=
ENST00000368300.9:c.678G>A MANE Select	ENSP00000357283.4:p.Leu226=
ENST00000496738.6:n.1053G>A
ENST00000504687.6:c.14G>A	ENSP00000426535.2:p.Trp5Ter
ENST00000674518.1:c.*28G>A	ENSP00000502261.1:n.*28G>A
ENST00000674600.1:c.*477G>A	ENSP00000501666.1:n.*477G>A
ENST00000674720.1:c.678G>A	ENSP00000502798.1:p.Leu226=
ENST00000675431.1:n.371G>A
ENST00000675455.1:c.*478G>A	ENSP00000501795.1:n.*478G>A
ENST00000675667.1:c.678G>A	ENSP00000501803.1:p.Leu226=
ENST00000675874.1:c.*149G>A	ENSP00000501851.1:n.*149G>A
ENST00000675881.1:c.678G>A	ENSP00000501670.1:p.Leu226=
ENST00000675939.1:c.678G>A	ENSP00000502256.1:p.Leu226=
ENST00000675989.1:n.1053G>A
ENST00000676208.1:c.678G>A	ENSP00000502468.1:p.Leu226=
ENST00000676283.1:n.1053G>A
ENST00000676385.2:c.678G>A	ENSP00000502091.1:p.Leu226=
ENST00000676434.1:c.678G>A	ENSP00000501648.1:p.Leu226=
ENST00000677389.1:c.678G>A MANE Plus Clinical	ENSP00000503633.1:p.Leu226=
ENST00000347559.6:c.678G>A	ENSP00000292304.3:p.Leu226=
ENST00000361308.8:c.678G>A	ENSP00000355292.5:p.Leu226=
ENST00000368297.5:c.435G>A	ENSP00000357280.1:p.Leu145=
ENST00000368299.7:c.678G>A	ENSP00000357282.3:p.Leu226=
ENST00000368300.8:c.678G>A	ENSP00000357283.4:p.Leu226=
ENST00000368301.6:c.678G>A	ENSP00000357284.2:p.Leu226=
ENST00000448611.6:c.342G>A	ENSP00000395597.2:p.Leu114=
ENST00000473598.6:c.381G>A	ENSP00000421821.1:p.Leu127=
ENST00000496738.5:n.23G>A
ENST00000504687.5:c.429G>A	ENSP00000426535.1:p.Leu143=
ENST00000515459.5:c.*352G>A	ENSP00000424518.1:n.*352G>A
ENST00000515824.1:n.39G>A
NM_001257374.2:c.342G>A	NP_001244303.1:p.Leu114=
NM_001282624.1:c.435G>A	NP_001269553.1:p.Leu145=
NM_001282625.1:c.678G>A	NP_001269554.1:p.Leu226=
NM_001282626.1:c.678G>A	NP_001269555.1:p.Leu226=
NM_005572.3:c.678G>A , LRG_254t1:c.678G>A	NP_005563.1:p.Leu226=
NM_170707.3:c.678G>A	NP_733821.1:p.Leu226=
NM_170708.3:c.678G>A	NP_733822.1:p.Leu226=
XM_011509533.1:c.342G>A	XP_011507835.1:p.Leu114=
XM_011509534.1:c.14G>A	XP_011507836.1:p.Trp5Ter
XR_921781.1:n.927G>A
XM_011509534.2:c.14G>A	XP_011507836.1:p.Trp5Ter
XR_921781.2:n.925G>A
NM_170707.4:c.678G>A MANE Select	NP_733821.1:p.Leu226=
NM_001257374.3:c.342G>A	NP_001244303.1:p.Leu114=
NM_001282626.2:c.678G>A	NP_001269555.1:p.Leu226=
NM_001282624.2:c.435G>A	NP_001269553.1:p.Leu145=
NM_001282625.2:c.678G>A	NP_001269554.1:p.Leu226=
NM_005572.4:c.678G>A MANE Plus Clinical	NP_005563.1:p.Leu226=
NM_170708.4:c.678G>A	NP_733822.1:p.Leu226=