Canonical Allele Identifier: CA018144
Gene: LMNA HGNC NCBI

Linked Data

ClinVar Variation Id: 48068
dbSNP Id: rs267607594

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156130745T>C , CM000663.2:g.156130745T>C GRCh38
NC_000001.10:g.156100536T>C , CM000663.1:g.156100536T>C GRCh37
NC_000001.9:g.154367160T>C NCBI36
NG_008692.2:g.53173T>C , LRG_254:g.53173T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000504687.7:c.-74T>C ENSP00000426535.3:n.-74T>C
ENST00000682650.1:c.485T>C ENSP00000506904.1:p.Leu162Pro
ENST00000683032.1:c.485T>C ENSP00000506771.1:p.Leu162Pro
ENST00000684195.1:c.485T>C ENSP00000508220.1:p.Leu162Pro
ENST00000361308.9:c.485T>C ENSP00000355292.6:p.Leu162Pro
ENST00000368300.9:c.485T>C MANE Select ENSP00000357283.4:p.Leu162Pro
ENST00000496738.6:n.860T>C
ENST00000504687.6:c.-180T>C ENSP00000426535.2:n.-180T>C
ENST00000674518.1:c.485T>C ENSP00000502261.1:p.Leu162Pro
ENST00000674600.1:c.*284T>C ENSP00000501666.1:n.*284T>C
ENST00000674720.1:c.485T>C ENSP00000502798.1:p.Leu162Pro
ENST00000675431.1:n.178T>C
ENST00000675455.1:c.*285T>C ENSP00000501795.1:n.*285T>C
ENST00000675667.1:c.485T>C ENSP00000501803.1:p.Leu162Pro
ENST00000675874.1:c.357-3658T>C ENSP00000501851.1:n.357-3658T>C
ENST00000675881.1:c.485T>C ENSP00000501670.1:p.Leu162Pro
ENST00000675939.1:c.485T>C ENSP00000502256.1:p.Leu162Pro
ENST00000675989.1:n.860T>C
ENST00000676208.1:c.485T>C ENSP00000502468.1:p.Leu162Pro
ENST00000676283.1:n.860T>C
ENST00000676385.2:c.485T>C ENSP00000502091.1:p.Leu162Pro
ENST00000676434.1:c.485T>C ENSP00000501648.1:p.Leu162Pro
ENST00000677389.1:c.485T>C MANE Plus Clinical ENSP00000503633.1:p.Leu162Pro
ENST00000347559.6:c.485T>C ENSP00000292304.3:p.Leu162Pro
ENST00000361308.8:c.485T>C ENSP00000355292.5:p.Leu162Pro
ENST00000368297.5:c.242T>C ENSP00000357280.1:p.Leu81Pro
ENST00000368299.7:c.485T>C ENSP00000357282.3:p.Leu162Pro
ENST00000368300.8:c.485T>C ENSP00000357283.4:p.Leu162Pro
ENST00000368301.6:c.485T>C ENSP00000357284.2:p.Leu162Pro
ENST00000448611.6:c.149T>C ENSP00000395597.2:p.Leu50Pro
ENST00000469565.6:n.519T>C
ENST00000470199.2:n.427T>C
ENST00000473598.6:c.188T>C ENSP00000421821.1:p.Leu63Pro
ENST00000502357.5:n.383T>C
ENST00000502751.5:n.457T>C
ENST00000504687.5:c.236T>C ENSP00000426535.1:p.Leu79Pro
ENST00000515459.5:c.*159T>C ENSP00000424518.1:n.*159T>C
NM_001257374.2:c.149T>C NP_001244303.1:p.Leu50Pro
NM_001282624.1:c.242T>C NP_001269553.1:p.Leu81Pro
NM_001282625.1:c.485T>C NP_001269554.1:p.Leu162Pro
NM_001282626.1:c.485T>C NP_001269555.1:p.Leu162Pro
NM_005572.3:c.485T>C , LRG_254t1:c.485T>C NP_005563.1:p.Leu162Pro
NM_170707.3:c.485T>C NP_733821.1:p.Leu162Pro
NM_170708.3:c.485T>C NP_733822.1:p.Leu162Pro
XM_011509533.1:c.149T>C XP_011507835.1:p.Leu50Pro
XM_011509534.1:c.-180T>C XP_011507836.1:n.-180T>C
XR_921781.1:n.734T>C
XM_011509534.2:c.-180T>C XP_011507836.1:n.-180T>C
XR_921781.2:n.732T>C
NM_170707.4:c.485T>C MANE Select NP_733821.1:p.Leu162Pro
NM_001257374.3:c.149T>C NP_001244303.1:p.Leu50Pro
NM_001282626.2:c.485T>C NP_001269555.1:p.Leu162Pro
NM_001282624.2:c.242T>C NP_001269553.1:p.Leu81Pro
NM_001282625.2:c.485T>C NP_001269554.1:p.Leu162Pro
NM_005572.4:c.485T>C MANE Plus Clinical NP_005563.1:p.Leu162Pro
NM_170708.4:c.485T>C NP_733822.1:p.Leu162Pro