Canonical Allele Identifier: CA421257784
Gene: LMNA HGNC NCBI

Linked Data

ClinVar Variation Id: 2452984
ClinVar RCV Id: RCV003177758
MyVariant Identifiers: chr1:g.156105800C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156136009C>A , CM000663.2:g.156136009C>A GRCh38
NC_000001.10:g.156105800C>A , CM000663.1:g.156105800C>A GRCh37
NC_000001.9:g.154372424C>A NCBI36
NG_008692.2:g.58437C>A , LRG_254:g.58437C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000504687.7:c.487C>A ENSP00000426535.3:p.Arg163=
ENST00000498722.3:n.277C>A
ENST00000682650.1:c.1045C>A ENSP00000506904.1:p.Arg349=
ENST00000683032.1:c.1045C>A ENSP00000506771.1:p.Arg349=
ENST00000684195.1:c.1045C>A ENSP00000508220.1:p.Arg349=
ENST00000361308.9:c.1045C>A ENSP00000355292.6:p.Arg349=
ENST00000368300.9:c.1045C>A MANE Select ENSP00000357283.4:p.Arg349=
ENST00000496738.6:n.1420C>A
ENST00000674518.1:c.*395C>A ENSP00000502261.1:n.*395C>A
ENST00000674600.1:c.*844C>A ENSP00000501666.1:n.*844C>A
ENST00000674720.1:c.1045C>A ENSP00000502798.1:p.Arg349=
ENST00000675431.1:n.738C>A
ENST00000675455.1:c.*845C>A ENSP00000501795.1:n.*845C>A
ENST00000675667.1:c.1045C>A ENSP00000501803.1:p.Arg349=
ENST00000675874.1:c.*516C>A ENSP00000501851.1:n.*516C>A
ENST00000675881.1:c.*56C>A ENSP00000501670.1:n.*56C>A
ENST00000675939.1:c.1045C>A ENSP00000502256.1:p.Arg349=
ENST00000675989.1:n.1420C>A
ENST00000676208.1:c.*56C>A ENSP00000502468.1:n.*56C>A
ENST00000676283.1:n.1420C>A
ENST00000676385.2:c.1045C>A ENSP00000502091.1:p.Arg349=
ENST00000676434.1:c.*56C>A ENSP00000501648.1:n.*56C>A
ENST00000677389.1:c.1045C>A MANE Plus Clinical ENSP00000503633.1:p.Arg349=
ENST00000347559.6:c.1045C>A ENSP00000292304.3:p.Arg349=
ENST00000361308.8:c.1045C>A ENSP00000355292.5:p.Arg349=
ENST00000368297.5:c.802C>A ENSP00000357280.1:p.Arg268=
ENST00000368298.2:n.309C>A
ENST00000368299.7:c.1045C>A ENSP00000357282.3:p.Arg349=
ENST00000368300.8:c.1045C>A ENSP00000357283.4:p.Arg349=
ENST00000368301.6:c.1045C>A ENSP00000357284.2:p.Arg349=
ENST00000448611.6:c.709C>A ENSP00000395597.2:p.Arg237=
ENST00000473598.6:c.748C>A ENSP00000421821.1:p.Arg250=
ENST00000496738.5:n.430C>A
ENST00000498722.2:n.277C>A
NM_001257374.2:c.709C>A NP_001244303.1:p.Arg237=
NM_001282624.1:c.802C>A NP_001269553.1:p.Arg268=
NM_001282625.1:c.1045C>A NP_001269554.1:p.Arg349=
NM_001282626.1:c.1045C>A NP_001269555.1:p.Arg349=
NM_005572.3:c.1045C>A , LRG_254t1:c.1045C>A NP_005563.1:p.Arg349=
NM_170707.3:c.1045C>A NP_733821.1:p.Arg349=
NM_170708.3:c.1045C>A NP_733822.1:p.Arg349=
XM_011509533.1:c.709C>A XP_011507835.1:p.Arg237=
XM_011509534.1:c.421C>A XP_011507836.1:p.Arg141=
XR_921781.1:n.1334C>A
XM_011509534.2:c.421C>A XP_011507836.1:p.Arg141=
XR_921781.2:n.1332C>A
NM_170707.4:c.1045C>A MANE Select NP_733821.1:p.Arg349=
NM_001257374.3:c.709C>A NP_001244303.1:p.Arg237=
NM_001282626.2:c.1045C>A NP_001269555.1:p.Arg349=
NM_001282624.2:c.802C>A NP_001269553.1:p.Arg268=
NM_001282625.2:c.1045C>A NP_001269554.1:p.Arg349=
NM_005572.4:c.1045C>A MANE Plus Clinical NP_005563.1:p.Arg349=
NM_170708.4:c.1045C>A NP_733822.1:p.Arg349=