Canonical Allele Identifier: CA342817060
Gene: LMNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156134511A>T , CM000663.2:g.156134511A>T GRCh38
NC_000001.10:g.156104302A>T , CM000663.1:g.156104302A>T GRCh37
NC_000001.9:g.154370926A>T NCBI36
NG_008692.2:g.56939A>T , LRG_254:g.56939A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000504687.7:c.64A>T ENSP00000426535.3:p.Lys22Ter
ENST00000682650.1:c.622A>T ENSP00000506904.1:p.Lys208Ter
ENST00000683032.1:c.622A>T ENSP00000506771.1:p.Lys208Ter
ENST00000684195.1:c.622A>T ENSP00000508220.1:p.Lys208Ter
ENST00000361308.9:c.622A>T ENSP00000355292.6:p.Lys208Ter
ENST00000368300.9:c.622A>T MANE Select ENSP00000357283.4:p.Lys208Ter
ENST00000496738.6:n.997A>T
ENST00000504687.6:c.-43A>T ENSP00000426535.2:n.-43A>T
ENST00000674518.1:c.622A>T ENSP00000502261.1:p.Lys208Ter
ENST00000674600.1:c.*421A>T ENSP00000501666.1:n.*421A>T
ENST00000674720.1:c.622A>T ENSP00000502798.1:p.Lys208Ter
ENST00000675431.1:n.315A>T
ENST00000675455.1:c.*422A>T ENSP00000501795.1:n.*422A>T
ENST00000675667.1:c.622A>T ENSP00000501803.1:p.Lys208Ter
ENST00000675874.1:c.*93A>T ENSP00000501851.1:n.*93A>T
ENST00000675881.1:c.622A>T ENSP00000501670.1:p.Lys208Ter
ENST00000675939.1:c.622A>T ENSP00000502256.1:p.Lys208Ter
ENST00000675989.1:n.997A>T
ENST00000676208.1:c.622A>T ENSP00000502468.1:p.Lys208Ter
ENST00000676283.1:n.997A>T
ENST00000676385.2:c.622A>T ENSP00000502091.1:p.Lys208Ter
ENST00000676434.1:c.622A>T ENSP00000501648.1:p.Lys208Ter
ENST00000677389.1:c.622A>T MANE Plus Clinical ENSP00000503633.1:p.Lys208Ter
ENST00000347559.6:c.622A>T ENSP00000292304.3:p.Lys208Ter
ENST00000361308.8:c.622A>T ENSP00000355292.5:p.Lys208Ter
ENST00000368297.5:c.379A>T ENSP00000357280.1:p.Lys127Ter
ENST00000368299.7:c.622A>T ENSP00000357282.3:p.Lys208Ter
ENST00000368300.8:c.622A>T ENSP00000357283.4:p.Lys208Ter
ENST00000368301.6:c.622A>T ENSP00000357284.2:p.Lys208Ter
ENST00000448611.6:c.286A>T ENSP00000395597.2:p.Lys96Ter
ENST00000473598.6:c.325A>T ENSP00000421821.1:p.Lys109Ter
ENST00000502357.5:n.520A>T
ENST00000504687.5:c.373A>T ENSP00000426535.1:p.Lys125Ter
ENST00000515459.5:c.*296A>T ENSP00000424518.1:n.*296A>T
NM_001257374.2:c.286A>T NP_001244303.1:p.Lys96Ter
NM_001282624.1:c.379A>T NP_001269553.1:p.Lys127Ter
NM_001282625.1:c.622A>T NP_001269554.1:p.Lys208Ter
NM_001282626.1:c.622A>T NP_001269555.1:p.Lys208Ter
NM_005572.3:c.622A>T , LRG_254t1:c.622A>T NP_005563.1:p.Lys208Ter
NM_170707.3:c.622A>T NP_733821.1:p.Lys208Ter
NM_170708.3:c.622A>T NP_733822.1:p.Lys208Ter
XM_011509533.1:c.286A>T XP_011507835.1:p.Lys96Ter
XM_011509534.1:c.-43A>T XP_011507836.1:n.-43A>T
XR_921781.1:n.871A>T
XM_011509534.2:c.-43A>T XP_011507836.1:n.-43A>T
XR_921781.2:n.869A>T
NM_170707.4:c.622A>T MANE Select NP_733821.1:p.Lys208Ter
NM_001257374.3:c.286A>T NP_001244303.1:p.Lys96Ter
NM_001282626.2:c.622A>T NP_001269555.1:p.Lys208Ter
NM_001282624.2:c.379A>T NP_001269553.1:p.Lys127Ter
NM_001282625.2:c.622A>T NP_001269554.1:p.Lys208Ter
NM_005572.4:c.622A>T MANE Plus Clinical NP_005563.1:p.Lys208Ter
NM_170708.4:c.622A>T NP_733822.1:p.Lys208Ter