Canonical Allele Identifier: CA018833

Gene: LMNA

Linked Data

• ClinVar Variation Id: 66953
• ClinVar RCV Id: RCV000057482
• dbSNP Id: rs267607596
• MyVariant Identifiers: chr1:g.156105072T>C (hg19) ; chr1:g.156135281T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156135281T>C , CM000663.2:g.156135281T>C	GRCh38
NC_000001.10:g.156105072T>C , CM000663.1:g.156105072T>C	GRCh37
NC_000001.9:g.154371696T>C	NCBI36
NG_008692.2:g.57709T>C , LRG_254:g.57709T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.347T>C	ENSP00000426535.3:p.Leu116Pro
ENST00000682650.1:c.905T>C	ENSP00000506904.1:p.Leu302Pro
ENST00000683032.1:c.905T>C	ENSP00000506771.1:p.Leu302Pro
ENST00000684195.1:c.905T>C	ENSP00000508220.1:p.Leu302Pro
ENST00000361308.9:c.905T>C	ENSP00000355292.6:p.Leu302Pro
ENST00000368300.9:c.905T>C MANE Select	ENSP00000357283.4:p.Leu302Pro
ENST00000496738.6:n.1280T>C
ENST00000674518.1:c.*255T>C	ENSP00000502261.1:n.*255T>C
ENST00000674600.1:c.*704T>C	ENSP00000501666.1:n.*704T>C
ENST00000674720.1:c.905T>C	ENSP00000502798.1:p.Leu302Pro
ENST00000675431.1:n.598T>C
ENST00000675455.1:c.*705T>C	ENSP00000501795.1:n.*705T>C
ENST00000675667.1:c.905T>C	ENSP00000501803.1:p.Leu302Pro
ENST00000675874.1:c.*376T>C	ENSP00000501851.1:n.*376T>C
ENST00000675881.1:c.905T>C	ENSP00000501670.1:p.Leu302Pro
ENST00000675939.1:c.905T>C	ENSP00000502256.1:p.Leu302Pro
ENST00000675989.1:n.1280T>C
ENST00000676208.1:c.905T>C	ENSP00000502468.1:p.Leu302Pro
ENST00000676283.1:n.1280T>C
ENST00000676385.2:c.905T>C	ENSP00000502091.1:p.Leu302Pro
ENST00000676434.1:c.905T>C	ENSP00000501648.1:p.Leu302Pro
ENST00000677389.1:c.905T>C MANE Plus Clinical	ENSP00000503633.1:p.Leu302Pro
ENST00000347559.6:c.905T>C	ENSP00000292304.3:p.Leu302Pro
ENST00000361308.8:c.905T>C	ENSP00000355292.5:p.Leu302Pro
ENST00000368297.5:c.662T>C	ENSP00000357280.1:p.Leu221Pro
ENST00000368298.2:n.169T>C
ENST00000368299.7:c.905T>C	ENSP00000357282.3:p.Leu302Pro
ENST00000368300.8:c.905T>C	ENSP00000357283.4:p.Leu302Pro
ENST00000368301.6:c.905T>C	ENSP00000357284.2:p.Leu302Pro
ENST00000448611.6:c.569T>C	ENSP00000395597.2:p.Leu190Pro
ENST00000473598.6:c.608T>C	ENSP00000421821.1:p.Leu203Pro
ENST00000496738.5:n.250T>C
ENST00000515824.1:n.266T>C
NM_001257374.2:c.569T>C	NP_001244303.1:p.Leu190Pro
NM_001282624.1:c.662T>C	NP_001269553.1:p.Leu221Pro
NM_001282625.1:c.905T>C	NP_001269554.1:p.Leu302Pro
NM_001282626.1:c.905T>C	NP_001269555.1:p.Leu302Pro
NM_005572.3:c.905T>C , LRG_254t1:c.905T>C	NP_005563.1:p.Leu302Pro
NM_170707.3:c.905T>C	NP_733821.1:p.Leu302Pro
NM_170708.3:c.905T>C	NP_733822.1:p.Leu302Pro
XM_011509533.1:c.569T>C	XP_011507835.1:p.Leu190Pro
XM_011509534.1:c.241T>C	XP_011507836.1:p.Ser81Pro
XR_921781.1:n.1154T>C
XM_011509534.2:c.241T>C	XP_011507836.1:p.Ser81Pro
XR_921781.2:n.1152T>C
NM_170707.4:c.905T>C MANE Select	NP_733821.1:p.Leu302Pro
NM_001257374.3:c.569T>C	NP_001244303.1:p.Leu190Pro
NM_001282626.2:c.905T>C	NP_001269555.1:p.Leu302Pro
NM_001282624.2:c.662T>C	NP_001269553.1:p.Leu221Pro
NM_001282625.2:c.905T>C	NP_001269554.1:p.Leu302Pro
NM_005572.4:c.905T>C MANE Plus Clinical	NP_005563.1:p.Leu302Pro
NM_170708.4:c.905T>C	NP_733822.1:p.Leu302Pro