Canonical Allele Identifier: CA342807133

Gene: LMNA

Linked Data

• ClinVar Variation Id: 523026
• ClinVar RCV Id: RCV000626229 ; RCV003581701
• dbSNP Id: rs1553261858
• gnomAD v4: 1-156114977-C-T
• MyVariant Identifiers: chr1:g.156084768C>T (hg19) ; chr1:g.156114977C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156114977C>T , CM000663.2:g.156114977C>T	GRCh38
NC_000001.10:g.156084768C>T , CM000663.1:g.156084768C>T	GRCh37
NC_000001.9:g.154351392C>T	NCBI36
NG_008692.2:g.37405C>T , LRG_254:g.37405C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682650.1:c.59C>T	ENSP00000506904.1:p.Pro20Leu
ENST00000683032.1:c.59C>T	ENSP00000506771.1:p.Pro20Leu
ENST00000684195.1:c.59C>T	ENSP00000508220.1:p.Pro20Leu
ENST00000361308.9:c.59C>T	ENSP00000355292.6:p.Pro20Leu
ENST00000368300.9:c.59C>T MANE Select	ENSP00000357283.4:p.Pro20Leu
ENST00000496738.6:n.434C>T
ENST00000674518.1:c.59C>T	ENSP00000502261.1:p.Pro20Leu
ENST00000674600.1:c.59C>T	ENSP00000501666.1:p.Pro20Leu
ENST00000674720.1:c.59C>T	ENSP00000502798.1:p.Pro20Leu
ENST00000675455.1:c.59C>T	ENSP00000501795.1:p.Pro20Leu
ENST00000675667.1:c.59C>T	ENSP00000501803.1:p.Pro20Leu
ENST00000675874.1:c.59C>T	ENSP00000501851.1:p.Pro20Leu
ENST00000675881.1:c.59C>T	ENSP00000501670.1:p.Pro20Leu
ENST00000675939.1:c.59C>T	ENSP00000502256.1:p.Pro20Leu
ENST00000675989.1:n.434C>T
ENST00000676208.1:c.59C>T	ENSP00000502468.1:p.Pro20Leu
ENST00000676283.1:n.434C>T
ENST00000676385.2:c.59C>T	ENSP00000502091.1:p.Pro20Leu
ENST00000676434.1:c.59C>T	ENSP00000501648.1:p.Pro20Leu
ENST00000677389.1:c.59C>T MANE Plus Clinical	ENSP00000503633.1:p.Pro20Leu
ENST00000347559.6:c.59C>T	ENSP00000292304.3:p.Pro20Leu
ENST00000361308.8:c.59C>T	ENSP00000355292.5:p.Pro20Leu
ENST00000368299.7:c.59C>T	ENSP00000357282.3:p.Pro20Leu
ENST00000368300.8:c.59C>T	ENSP00000357283.4:p.Pro20Leu
ENST00000368301.6:c.59C>T	ENSP00000357284.2:p.Pro20Leu
ENST00000469565.6:n.93C>T
ENST00000470199.2:n.267C>T
ENST00000478063.2:n.215C>T
ENST00000502751.5:n.329-15640C>T
NM_001282625.1:c.59C>T	NP_001269554.1:p.Pro20Leu
NM_001282626.1:c.59C>T	NP_001269555.1:p.Pro20Leu
NM_005572.3:c.59C>T , LRG_254t1:c.59C>T	NP_005563.1:p.Pro20Leu
NM_170707.3:c.59C>T	NP_733821.1:p.Pro20Leu
NM_170708.3:c.59C>T	NP_733822.1:p.Pro20Leu
XR_921781.1:n.308C>T
XR_921781.2:n.306C>T
NM_170707.4:c.59C>T MANE Select	NP_733821.1:p.Pro20Leu
NM_001282626.2:c.59C>T	NP_001269555.1:p.Pro20Leu
NM_001282625.2:c.59C>T	NP_001269554.1:p.Pro20Leu
NM_005572.4:c.59C>T MANE Plus Clinical	NP_005563.1:p.Pro20Leu
NM_170708.4:c.59C>T	NP_733822.1:p.Pro20Leu