Canonical Allele Identifier: CA342815415

Gene: LMNA

Linked Data

• ClinVar Variation Id: 430306
• ClinVar RCV Id: RCV000493099 ; RCV001060974
• dbSNP Id: rs139875047
• MyVariant Identifiers: chr1:g.156100490G>C (hg19) ; chr1:g.156130699G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156130699G>C , CM000663.2:g.156130699G>C	GRCh38
NC_000001.10:g.156100490G>C , CM000663.1:g.156100490G>C	GRCh37
NC_000001.9:g.154367114G>C	NCBI36
NG_008692.2:g.53127G>C , LRG_254:g.53127G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.-120G>C	ENSP00000426535.3:n.-120G>C
ENST00000682650.1:c.439G>C	ENSP00000506904.1:p.Ala147Pro
ENST00000683032.1:c.439G>C	ENSP00000506771.1:p.Ala147Pro
ENST00000684195.1:c.439G>C	ENSP00000508220.1:p.Ala147Pro
ENST00000361308.9:c.439G>C	ENSP00000355292.6:p.Ala147Pro
ENST00000368300.9:c.439G>C MANE Select	ENSP00000357283.4:p.Ala147Pro
ENST00000496738.6:n.814G>C
ENST00000504687.6:c.-226G>C	ENSP00000426535.2:n.-226G>C
ENST00000674518.1:c.439G>C	ENSP00000502261.1:p.Ala147Pro
ENST00000674600.1:c.*238G>C	ENSP00000501666.1:n.*238G>C
ENST00000674720.1:c.439G>C	ENSP00000502798.1:p.Ala147Pro
ENST00000675431.1:n.132G>C
ENST00000675455.1:c.*239G>C	ENSP00000501795.1:n.*239G>C
ENST00000675667.1:c.439G>C	ENSP00000501803.1:p.Ala147Pro
ENST00000675874.1:c.357-3704G>C	ENSP00000501851.1:n.357-3704G>C
ENST00000675881.1:c.439G>C	ENSP00000501670.1:p.Ala147Pro
ENST00000675939.1:c.439G>C	ENSP00000502256.1:p.Ala147Pro
ENST00000675989.1:n.814G>C
ENST00000676208.1:c.439G>C	ENSP00000502468.1:p.Ala147Pro
ENST00000676283.1:n.814G>C
ENST00000676385.2:c.439G>C	ENSP00000502091.1:p.Ala147Pro
ENST00000676434.1:c.439G>C	ENSP00000501648.1:p.Ala147Pro
ENST00000677389.1:c.439G>C MANE Plus Clinical	ENSP00000503633.1:p.Ala147Pro
ENST00000347559.6:c.439G>C	ENSP00000292304.3:p.Ala147Pro
ENST00000361308.8:c.439G>C	ENSP00000355292.5:p.Ala147Pro
ENST00000368297.5:c.196G>C	ENSP00000357280.1:p.Ala66Pro
ENST00000368299.7:c.439G>C	ENSP00000357282.3:p.Ala147Pro
ENST00000368300.8:c.439G>C	ENSP00000357283.4:p.Ala147Pro
ENST00000368301.6:c.439G>C	ENSP00000357284.2:p.Ala147Pro
ENST00000448611.6:c.103G>C	ENSP00000395597.2:p.Ala35Pro
ENST00000469565.6:n.473G>C
ENST00000470199.2:n.381G>C
ENST00000473598.6:c.142G>C	ENSP00000421821.1:p.Ala48Pro
ENST00000502357.5:n.337G>C
ENST00000502751.5:n.411G>C
ENST00000504687.5:c.190G>C	ENSP00000426535.1:p.Ala64Pro
ENST00000515459.5:c.*113G>C	ENSP00000424518.1:n.*113G>C
NM_001257374.2:c.103G>C	NP_001244303.1:p.Ala35Pro
NM_001282624.1:c.196G>C	NP_001269553.1:p.Ala66Pro
NM_001282625.1:c.439G>C	NP_001269554.1:p.Ala147Pro
NM_001282626.1:c.439G>C	NP_001269555.1:p.Ala147Pro
NM_005572.3:c.439G>C , LRG_254t1:c.439G>C	NP_005563.1:p.Ala147Pro
NM_170707.3:c.439G>C	NP_733821.1:p.Ala147Pro
NM_170708.3:c.439G>C	NP_733822.1:p.Ala147Pro
XM_011509533.1:c.103G>C	XP_011507835.1:p.Ala35Pro
XM_011509534.1:c.-226G>C	XP_011507836.1:n.-226G>C
XR_921781.1:n.688G>C
XM_011509534.2:c.-226G>C	XP_011507836.1:n.-226G>C
XR_921781.2:n.686G>C
NM_170707.4:c.439G>C MANE Select	NP_733821.1:p.Ala147Pro
NM_001257374.3:c.103G>C	NP_001244303.1:p.Ala35Pro
NM_001282626.2:c.439G>C	NP_001269555.1:p.Ala147Pro
NM_001282624.2:c.196G>C	NP_001269553.1:p.Ala66Pro
NM_001282625.2:c.439G>C	NP_001269554.1:p.Ala147Pro
NM_005572.4:c.439G>C MANE Plus Clinical	NP_005563.1:p.Ala147Pro
NM_170708.4:c.439G>C	NP_733822.1:p.Ala147Pro