Canonical Allele Identifier: CA342815117

Gene: LMNA

Linked Data

• gnomAD v4: 1-156130645-G-T
• MyVariant Identifiers: chr1:g.156100436G>T (hg19) ; chr1:g.156130645G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156130645G>T , CM000663.2:g.156130645G>T	GRCh38
NC_000001.10:g.156100436G>T , CM000663.1:g.156100436G>T	GRCh37
NC_000001.9:g.154367060G>T	NCBI36
NG_008692.2:g.53073G>T , LRG_254:g.53073G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.-174G>T	ENSP00000426535.3:n.-174G>T
ENST00000682650.1:c.385G>T	ENSP00000506904.1:p.Ala129Ser
ENST00000683032.1:c.385G>T	ENSP00000506771.1:p.Ala129Ser
ENST00000684195.1:c.385G>T	ENSP00000508220.1:p.Ala129Ser
ENST00000361308.9:c.385G>T	ENSP00000355292.6:p.Ala129Ser
ENST00000368300.9:c.385G>T MANE Select	ENSP00000357283.4:p.Ala129Ser
ENST00000496738.6:n.760G>T
ENST00000504687.6:c.-280G>T	ENSP00000426535.2:n.-280G>T
ENST00000674518.1:c.385G>T	ENSP00000502261.1:p.Ala129Ser
ENST00000674600.1:c.*184G>T	ENSP00000501666.1:n.*184G>T
ENST00000674720.1:c.385G>T	ENSP00000502798.1:p.Ala129Ser
ENST00000675431.1:n.78G>T
ENST00000675455.1:c.*185G>T	ENSP00000501795.1:n.*185G>T
ENST00000675667.1:c.385G>T	ENSP00000501803.1:p.Ala129Ser
ENST00000675874.1:c.357-3758G>T	ENSP00000501851.1:n.357-3758G>T
ENST00000675881.1:c.385G>T	ENSP00000501670.1:p.Ala129Ser
ENST00000675939.1:c.385G>T	ENSP00000502256.1:p.Ala129Ser
ENST00000675989.1:n.760G>T
ENST00000676208.1:c.385G>T	ENSP00000502468.1:p.Ala129Ser
ENST00000676283.1:n.760G>T
ENST00000676385.2:c.385G>T	ENSP00000502091.1:p.Ala129Ser
ENST00000676434.1:c.385G>T	ENSP00000501648.1:p.Ala129Ser
ENST00000677389.1:c.385G>T MANE Plus Clinical	ENSP00000503633.1:p.Ala129Ser
ENST00000347559.6:c.385G>T	ENSP00000292304.3:p.Ala129Ser
ENST00000361308.8:c.385G>T	ENSP00000355292.5:p.Ala129Ser
ENST00000368297.5:c.142G>T	ENSP00000357280.1:p.Ala48Ser
ENST00000368299.7:c.385G>T	ENSP00000357282.3:p.Ala129Ser
ENST00000368300.8:c.385G>T	ENSP00000357283.4:p.Ala129Ser
ENST00000368301.6:c.385G>T	ENSP00000357284.2:p.Ala129Ser
ENST00000448611.6:c.49G>T	ENSP00000395597.2:p.Ala17Ser
ENST00000469565.6:n.419G>T
ENST00000470199.2:n.357-30G>T
ENST00000473598.6:c.88G>T	ENSP00000421821.1:p.Ala30Ser
ENST00000502357.5:n.283G>T
ENST00000502751.5:n.357G>T
ENST00000504687.5:c.136G>T	ENSP00000426535.1:p.Ala46Ser
ENST00000515459.5:c.*59G>T	ENSP00000424518.1:n.*59G>T
NM_001257374.2:c.49G>T	NP_001244303.1:p.Ala17Ser
NM_001282624.1:c.142G>T	NP_001269553.1:p.Ala48Ser
NM_001282625.1:c.385G>T	NP_001269554.1:p.Ala129Ser
NM_001282626.1:c.385G>T	NP_001269555.1:p.Ala129Ser
NM_005572.3:c.385G>T , LRG_254t1:c.385G>T	NP_005563.1:p.Ala129Ser
NM_170707.3:c.385G>T	NP_733821.1:p.Ala129Ser
NM_170708.3:c.385G>T	NP_733822.1:p.Ala129Ser
XM_011509533.1:c.49G>T	XP_011507835.1:p.Ala17Ser
XM_011509534.1:c.-280G>T	XP_011507836.1:n.-280G>T
XR_921781.1:n.634G>T
XM_011509534.2:c.-280G>T	XP_011507836.1:n.-280G>T
XR_921781.2:n.632G>T
NM_170707.4:c.385G>T MANE Select	NP_733821.1:p.Ala129Ser
NM_001257374.3:c.49G>T	NP_001244303.1:p.Ala17Ser
NM_001282626.2:c.385G>T	NP_001269555.1:p.Ala129Ser
NM_001282624.2:c.142G>T	NP_001269553.1:p.Ala48Ser
NM_001282625.2:c.385G>T	NP_001269554.1:p.Ala129Ser
NM_005572.4:c.385G>T MANE Plus Clinical	NP_005563.1:p.Ala129Ser
NM_170708.4:c.385G>T	NP_733822.1:p.Ala129Ser