Canonical Allele Identifier: CA342828051

Gene: LMNA

Linked Data

• MyVariant Identifiers: chr1:g.156108513T>G (hg19) ; chr1:g.156138722T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156138722T>G , CM000663.2:g.156138722T>G	GRCh38
NC_000001.10:g.156108513T>G , CM000663.1:g.156108513T>G	GRCh37
NC_000001.9:g.154375137T>G	NCBI36
NG_008692.2:g.61150T>G , LRG_254:g.61150T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000504687.7:c.1375T>G	ENSP00000426535.3:p.Ser459Ala
ENST00000682650.1:c.1843T>G	ENSP00000506904.1:p.Ser615Ala
ENST00000683032.1:c.1933T>G	ENSP00000506771.1:p.Ser645Ala
ENST00000683773.1:n.163+115T>G
ENST00000684195.1:c.*1025T>G	ENSP00000508220.1:n.*1025T>G
ENST00000361308.9:c.1933T>G	ENSP00000355292.6:p.Ser645Ala
ENST00000368300.9:c.1933T>G MANE Select	ENSP00000357283.4:p.Ser645Ala
ENST00000674518.1:c.*1283T>G	ENSP00000502261.1:n.*1283T>G
ENST00000674600.1:c.*1732T>G	ENSP00000501666.1:n.*1732T>G
ENST00000675455.1:c.*1733T>G	ENSP00000501795.1:n.*1733T>G
ENST00000675667.1:c.1933T>G	ENSP00000501803.1:p.Ser645Ala
ENST00000675874.1:c.*1404T>G	ENSP00000501851.1:n.*1404T>G
ENST00000675881.1:c.*944T>G	ENSP00000501670.1:n.*944T>G
ENST00000675939.1:c.1933T>G	ENSP00000502256.1:p.Ser645Ala
ENST00000675989.1:n.3536T>G
ENST00000676208.1:c.*1036T>G	ENSP00000502468.1:n.*1036T>G
ENST00000676385.2:c.1843T>G	ENSP00000502091.1:p.Ser615Ala
ENST00000676434.1:c.*1688T>G	ENSP00000501648.1:n.*1688T>G
ENST00000347559.6:c.1843T>G	ENSP00000292304.3:p.Ser615Ala
ENST00000368299.7:c.1818+115T>G	ENSP00000357282.3:n.1818+115T>G
ENST00000368300.8:c.1933T>G	ENSP00000357283.4:p.Ser645Ala
ENST00000448611.6:c.1597T>G	ENSP00000395597.2:p.Ser533Ala
ENST00000473598.6:c.1636T>G	ENSP00000421821.1:p.Ser546Ala
ENST00000496738.5:n.2146T>G
ENST00000506981.1:n.517T>G
ENST00000508500.1:c.721T>G	ENSP00000424977.1:p.Ser241Ala
NM_001257374.2:c.1597T>G	NP_001244303.1:p.Ser533Ala
NM_001282626.1:c.1818+115T>G	NP_001269555.1:n.1818+115T>G
NM_170707.3:c.1933T>G	NP_733821.1:p.Ser645Ala
NM_170708.3:c.1843T>G	NP_733822.1:p.Ser615Ala
XM_011509533.1:c.1597T>G	XP_011507835.1:p.Ser533Ala
XM_011509534.1:c.1309T>G	XP_011507836.1:p.Ser437Ala
XR_921781.1:n.2222T>G
XM_011509534.2:c.1309T>G	XP_011507836.1:p.Ser437Ala
XR_921781.2:n.2220T>G
NM_170707.4:c.1933T>G MANE Select	NP_733821.1:p.Ser645Ala
NM_001257374.3:c.1597T>G	NP_001244303.1:p.Ser533Ala
NM_001282626.2:c.1818+115T>G	NP_001269555.1:n.1818+115T>G
NM_170708.4:c.1843T>G	NP_733822.1:p.Ser615Ala