Canonical Allele Identifier: CA017607
Gene: LMNA HGNC NCBI

Linked Data

ClinVar Variation Id: 29775
dbSNP Id: rs56984562

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156137666C>G , CM000663.2:g.156137666C>G GRCh38
NC_000001.10:g.156107457C>G , CM000663.1:g.156107457C>G GRCh37
NC_000001.9:g.154374081C>G NCBI36
NG_008692.2:g.60094C>G , LRG_254:g.60094C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000504687.7:c.1063C>G ENSP00000426535.3:p.Arg355Gly
ENST00000498722.3:n.853C>G
ENST00000682650.1:c.1608+434C>G ENSP00000506904.1:n.1608+434C>G
ENST00000683032.1:c.1621C>G ENSP00000506771.1:p.Arg541Gly
ENST00000684195.1:c.1592C>G ENSP00000508220.1:p.Ala531Gly
ENST00000361308.9:c.1621C>G ENSP00000355292.6:p.Arg541Gly
ENST00000368300.9:c.1621C>G MANE Select ENSP00000357283.4:p.Arg541Gly
ENST00000496738.6:n.2080C>G
ENST00000674518.1:c.*971C>G ENSP00000502261.1:n.*971C>G
ENST00000674600.1:c.*1420C>G ENSP00000501666.1:n.*1420C>G
ENST00000674720.1:c.*183C>G ENSP00000502798.1:n.*183C>G
ENST00000675431.1:n.1314C>G
ENST00000675455.1:c.*1421C>G ENSP00000501795.1:n.*1421C>G
ENST00000675667.1:c.1621C>G ENSP00000501803.1:p.Arg541Gly
ENST00000675874.1:c.*1092C>G ENSP00000501851.1:n.*1092C>G
ENST00000675881.1:c.*632C>G ENSP00000501670.1:n.*632C>G
ENST00000675939.1:c.1621C>G ENSP00000502256.1:p.Arg541Gly
ENST00000675989.1:n.2480C>G
ENST00000676208.1:c.*724C>G ENSP00000502468.1:n.*724C>G
ENST00000676283.1:n.2417C>G
ENST00000676385.2:c.1608+434C>G ENSP00000502091.1:n.1608+434C>G
ENST00000676434.1:c.*632C>G ENSP00000501648.1:n.*632C>G
ENST00000677389.1:c.1621C>G MANE Plus Clinical ENSP00000503633.1:p.Arg541Gly
ENST00000347559.6:c.1608+434C>G ENSP00000292304.3:n.1608+434C>G
ENST00000361308.8:c.1366C>G ENSP00000355292.5:p.Arg456Gly
ENST00000368297.5:c.1378C>G ENSP00000357280.1:p.Arg460Gly
ENST00000368299.7:c.1621C>G ENSP00000357282.3:p.Arg541Gly
ENST00000368300.8:c.1621C>G ENSP00000357283.4:p.Arg541Gly
ENST00000368301.6:c.1621C>G ENSP00000357284.2:p.Arg541Gly
ENST00000448611.6:c.1285C>G ENSP00000395597.2:p.Arg429Gly
ENST00000473598.6:c.1324C>G ENSP00000421821.1:p.Arg442Gly
ENST00000496738.5:n.1090C>G
ENST00000498722.2:n.853C>G
ENST00000506981.1:n.205C>G
ENST00000508500.1:c.486+434C>G ENSP00000424977.1:n.486+434C>G
NM_001257374.2:c.1285C>G NP_001244303.1:p.Arg429Gly
NM_001282624.1:c.1378C>G NP_001269553.1:p.Arg460Gly
NM_001282625.1:c.1621C>G NP_001269554.1:p.Arg541Gly
NM_001282626.1:c.1621C>G NP_001269555.1:p.Arg541Gly
NM_005572.3:c.1621C>G , LRG_254t1:c.1621C>G NP_005563.1:p.Arg541Gly
NM_170707.3:c.1621C>G NP_733821.1:p.Arg541Gly
NM_170708.3:c.1608+434C>G NP_733822.1:n.1608+434C>G
XM_011509533.1:c.1285C>G XP_011507835.1:p.Arg429Gly
XM_011509534.1:c.997C>G XP_011507836.1:p.Arg333Gly
XR_921781.1:n.1910C>G
XM_011509534.2:c.997C>G XP_011507836.1:p.Arg333Gly
XR_921781.2:n.1908C>G
NM_170707.4:c.1621C>G MANE Select NP_733821.1:p.Arg541Gly
NM_001257374.3:c.1285C>G NP_001244303.1:p.Arg429Gly
NM_001282626.2:c.1621C>G NP_001269555.1:p.Arg541Gly
NM_001282624.2:c.1378C>G NP_001269553.1:p.Arg460Gly
NM_001282625.2:c.1621C>G NP_001269554.1:p.Arg541Gly
NM_005572.4:c.1621C>G MANE Plus Clinical NP_005563.1:p.Arg541Gly
NM_170708.4:c.1608+434C>G NP_733822.1:n.1608+434C>G