Canonical Allele Identifier: CA342808708

Gene: LMNA

Linked Data

• ClinVar Variation Id: 520647
• ClinVar RCV Id: RCV000622678 ; RCV001376156 ; RCV003133407
• dbSNP Id: rs1553262007
• MyVariant Identifiers: chr1:g.156085014T>C (hg19) ; chr1:g.156115223T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156115223T>C , CM000663.2:g.156115223T>C	GRCh38
NC_000001.10:g.156085014T>C , CM000663.1:g.156085014T>C	GRCh37
NC_000001.9:g.154351638T>C	NCBI36
NG_008692.2:g.37651T>C , LRG_254:g.37651T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682650.1:c.305T>C	ENSP00000506904.1:p.Leu102Pro
ENST00000683032.1:c.305T>C	ENSP00000506771.1:p.Leu102Pro
ENST00000684195.1:c.305T>C	ENSP00000508220.1:p.Leu102Pro
ENST00000361308.9:c.305T>C	ENSP00000355292.6:p.Leu102Pro
ENST00000368300.9:c.305T>C MANE Select	ENSP00000357283.4:p.Leu102Pro
ENST00000496738.6:n.680T>C
ENST00000674518.1:c.305T>C	ENSP00000502261.1:p.Leu102Pro
ENST00000674600.1:c.305T>C	ENSP00000501666.1:p.Leu102Pro
ENST00000674720.1:c.305T>C	ENSP00000502798.1:p.Leu102Pro
ENST00000675455.1:c.*105T>C	ENSP00000501795.1:n.*105T>C
ENST00000675667.1:c.305T>C	ENSP00000501803.1:p.Leu102Pro
ENST00000675874.1:c.305T>C	ENSP00000501851.1:p.Leu102Pro
ENST00000675881.1:c.305T>C	ENSP00000501670.1:p.Leu102Pro
ENST00000675939.1:c.305T>C	ENSP00000502256.1:p.Leu102Pro
ENST00000675989.1:n.680T>C
ENST00000676208.1:c.305T>C	ENSP00000502468.1:p.Leu102Pro
ENST00000676283.1:n.680T>C
ENST00000676385.2:c.305T>C	ENSP00000502091.1:p.Leu102Pro
ENST00000676434.1:c.305T>C	ENSP00000501648.1:p.Leu102Pro
ENST00000677389.1:c.305T>C MANE Plus Clinical	ENSP00000503633.1:p.Leu102Pro
ENST00000347559.6:c.305T>C	ENSP00000292304.3:p.Leu102Pro
ENST00000361308.8:c.305T>C	ENSP00000355292.5:p.Leu102Pro
ENST00000368299.7:c.305T>C	ENSP00000357282.3:p.Leu102Pro
ENST00000368300.8:c.305T>C	ENSP00000357283.4:p.Leu102Pro
ENST00000368301.6:c.305T>C	ENSP00000357284.2:p.Leu102Pro
ENST00000469565.6:n.339T>C
ENST00000470199.2:n.356+157T>C
ENST00000502751.5:n.329-15394T>C
NM_001282625.1:c.305T>C	NP_001269554.1:p.Leu102Pro
NM_001282626.1:c.305T>C	NP_001269555.1:p.Leu102Pro
NM_005572.3:c.305T>C , LRG_254t1:c.305T>C	NP_005563.1:p.Leu102Pro
NM_170707.3:c.305T>C	NP_733821.1:p.Leu102Pro
NM_170708.3:c.305T>C	NP_733822.1:p.Leu102Pro
XR_921781.1:n.554T>C
XR_921781.2:n.552T>C
NM_170707.4:c.305T>C MANE Select	NP_733821.1:p.Leu102Pro
NM_001282626.2:c.305T>C	NP_001269555.1:p.Leu102Pro
NM_001282625.2:c.305T>C	NP_001269554.1:p.Leu102Pro
NM_005572.4:c.305T>C MANE Plus Clinical	NP_005563.1:p.Leu102Pro
NM_170708.4:c.305T>C	NP_733822.1:p.Leu102Pro