Canonical Allele Identifier: CA421257875

Gene: LMNA

Linked Data

• ClinVar Variation Id: 806241
• ClinVar RCV Id: RCV000994132
• dbSNP Id: rs57508089
• MyVariant Identifiers: chr1:g.156105901C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156136110C>A , CM000663.2:g.156136110C>A	GRCh38
NC_000001.10:g.156105901C>A , CM000663.1:g.156105901C>A	GRCh37
NC_000001.9:g.154372525C>A	NCBI36
NG_008692.2:g.58538C>A , LRG_254:g.58538C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000504687.7:c.588C>A	ENSP00000426535.3:p.Gly196=
ENST00000498722.3:n.378C>A
ENST00000682650.1:c.1146C>A	ENSP00000506904.1:p.Gly382=
ENST00000683032.1:c.1146C>A	ENSP00000506771.1:p.Gly382=
ENST00000684195.1:c.1146C>A	ENSP00000508220.1:p.Gly382=
ENST00000361308.9:c.1146C>A	ENSP00000355292.6:p.Gly382=
ENST00000368300.9:c.1146C>A MANE Select	ENSP00000357283.4:p.Gly382=
ENST00000496738.6:n.1521C>A
ENST00000674518.1:c.*496C>A	ENSP00000502261.1:n.*496C>A
ENST00000674600.1:c.*945C>A	ENSP00000501666.1:n.*945C>A
ENST00000674720.1:c.1146C>A	ENSP00000502798.1:p.Gly382=
ENST00000675431.1:n.839C>A
ENST00000675455.1:c.*946C>A	ENSP00000501795.1:n.*946C>A
ENST00000675667.1:c.1146C>A	ENSP00000501803.1:p.Gly382=
ENST00000675874.1:c.*617C>A	ENSP00000501851.1:n.*617C>A
ENST00000675881.1:c.*157C>A	ENSP00000501670.1:n.*157C>A
ENST00000675939.1:c.1146C>A	ENSP00000502256.1:p.Gly382=
ENST00000675989.1:n.1521C>A
ENST00000676208.1:c.*157C>A	ENSP00000502468.1:n.*157C>A
ENST00000676283.1:n.1521C>A
ENST00000676385.2:c.1146C>A	ENSP00000502091.1:p.Gly382=
ENST00000676434.1:c.*157C>A	ENSP00000501648.1:n.*157C>A
ENST00000677389.1:c.1146C>A MANE Plus Clinical	ENSP00000503633.1:p.Gly382=
ENST00000347559.6:c.1146C>A	ENSP00000292304.3:p.Gly382=
ENST00000361308.8:c.1146C>A	ENSP00000355292.5:p.Gly382=
ENST00000368297.5:c.903C>A	ENSP00000357280.1:p.Gly301=
ENST00000368298.2:n.410C>A
ENST00000368299.7:c.1146C>A	ENSP00000357282.3:p.Gly382=
ENST00000368300.8:c.1146C>A	ENSP00000357283.4:p.Gly382=
ENST00000368301.6:c.1146C>A	ENSP00000357284.2:p.Gly382=
ENST00000448611.6:c.810C>A	ENSP00000395597.2:p.Gly270=
ENST00000473598.6:c.849C>A	ENSP00000421821.1:p.Gly283=
ENST00000496738.5:n.531C>A
ENST00000498722.2:n.378C>A
ENST00000508500.1:c.24C>A	ENSP00000424977.1:p.Gly8=
NM_001257374.2:c.810C>A	NP_001244303.1:p.Gly270=
NM_001282624.1:c.903C>A	NP_001269553.1:p.Gly301=
NM_001282625.1:c.1146C>A	NP_001269554.1:p.Gly382=
NM_001282626.1:c.1146C>A	NP_001269555.1:p.Gly382=
NM_005572.3:c.1146C>A , LRG_254t1:c.1146C>A	NP_005563.1:p.Gly382=
NM_170707.3:c.1146C>A	NP_733821.1:p.Gly382=
NM_170708.3:c.1146C>A	NP_733822.1:p.Gly382=
XM_011509533.1:c.810C>A	XP_011507835.1:p.Gly270=
XM_011509534.1:c.522C>A	XP_011507836.1:p.Gly174=
XR_921781.1:n.1435C>A
XM_011509534.2:c.522C>A	XP_011507836.1:p.Gly174=
XR_921781.2:n.1433C>A
NM_170707.4:c.1146C>A MANE Select	NP_733821.1:p.Gly382=
NM_001257374.3:c.810C>A	NP_001244303.1:p.Gly270=
NM_001282626.2:c.1146C>A	NP_001269555.1:p.Gly382=
NM_001282624.2:c.903C>A	NP_001269553.1:p.Gly301=
NM_001282625.2:c.1146C>A	NP_001269554.1:p.Gly382=
NM_005572.4:c.1146C>A MANE Plus Clinical	NP_005563.1:p.Gly382=
NM_170708.4:c.1146C>A	NP_733822.1:p.Gly382=