Canonical Allele Identifier: CA051776

Gene: LMNA

Linked Data

• ClinVar Variation Id: 2955782
• ClinVar RCV Id: RCV003810933
• dbSNP Id: rs781255269
• ExAC: 1:156108545 C / T
• gnomAD v2: 1-156108545-C-T
• gnomAD v4: 1-156138754-C-T
• MyVariant Identifiers: chr1:g.156108545C>T (hg19) ; chr1:g.156138754C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156138754C>T , CM000663.2:g.156138754C>T	GRCh38
NC_000001.10:g.156108545C>T , CM000663.1:g.156108545C>T	GRCh37
NC_000001.9:g.154375169C>T	NCBI36
NG_008692.2:g.61182C>T , LRG_254:g.61182C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000504687.7:c.1407C>T	ENSP00000426535.3:p.Thr469=
ENST00000682650.1:c.1875C>T	ENSP00000506904.1:p.Thr625=
ENST00000683032.1:c.1965C>T	ENSP00000506771.1:p.Thr655=
ENST00000683773.1:n.163+147C>T
ENST00000684195.1:c.*1057C>T	ENSP00000508220.1:n.*1057C>T
ENST00000361308.9:c.1965C>T	ENSP00000355292.6:p.Thr655=
ENST00000368300.9:c.1965C>T MANE Select	ENSP00000357283.4:p.Thr655=
ENST00000674518.1:c.*1315C>T	ENSP00000502261.1:n.*1315C>T
ENST00000674600.1:c.*1764C>T	ENSP00000501666.1:n.*1764C>T
ENST00000675455.1:c.*1765C>T	ENSP00000501795.1:n.*1765C>T
ENST00000675667.1:c.1965C>T	ENSP00000501803.1:p.Thr655=
ENST00000675874.1:c.*1436C>T	ENSP00000501851.1:n.*1436C>T
ENST00000675881.1:c.*976C>T	ENSP00000501670.1:n.*976C>T
ENST00000675939.1:c.1965C>T	ENSP00000502256.1:p.Thr655=
ENST00000675989.1:n.3568C>T
ENST00000676208.1:c.*1068C>T	ENSP00000502468.1:n.*1068C>T
ENST00000676385.2:c.1875C>T	ENSP00000502091.1:p.Thr625=
ENST00000676434.1:c.*1720C>T	ENSP00000501648.1:n.*1720C>T
ENST00000347559.6:c.1875C>T	ENSP00000292304.3:p.Thr625=
ENST00000368299.7:c.1818+147C>T	ENSP00000357282.3:n.1818+147C>T
ENST00000368300.8:c.1965C>T	ENSP00000357283.4:p.Thr655=
ENST00000448611.6:c.1629C>T	ENSP00000395597.2:p.Thr543=
ENST00000473598.6:c.1668C>T	ENSP00000421821.1:p.Thr556=
ENST00000496738.5:n.2178C>T
ENST00000506981.1:n.549C>T
ENST00000508500.1:c.753C>T	ENSP00000424977.1:p.Thr251=
NM_001257374.2:c.1629C>T	NP_001244303.1:p.Thr543=
NM_001282626.1:c.1818+147C>T	NP_001269555.1:n.1818+147C>T
NM_170707.3:c.1965C>T	NP_733821.1:p.Thr655=
NM_170708.3:c.1875C>T	NP_733822.1:p.Thr625=
XM_011509533.1:c.1629C>T	XP_011507835.1:p.Thr543=
XM_011509534.1:c.1341C>T	XP_011507836.1:p.Thr447=
XR_921781.1:n.2254C>T
XM_011509534.2:c.1341C>T	XP_011507836.1:p.Thr447=
XR_921781.2:n.2252C>T
NM_170707.4:c.1965C>T MANE Select	NP_733821.1:p.Thr655=
NM_001257374.3:c.1629C>T	NP_001244303.1:p.Thr543=
NM_001282626.2:c.1818+147C>T	NP_001269555.1:n.1818+147C>T
NM_170708.4:c.1875C>T	NP_733822.1:p.Thr625=