Canonical Allele Identifier: CA342825429

Gene: LMNA

Linked Data

• ClinVar Variation Id: 2701263
• ClinVar RCV Id: RCV003582245
• gnomAD v4: 1-156137676-T-C
• MyVariant Identifiers: chr1:g.156107467T>C (hg19) ; chr1:g.156137676T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156137676T>C , CM000663.2:g.156137676T>C	GRCh38
NC_000001.10:g.156107467T>C , CM000663.1:g.156107467T>C	GRCh37
NC_000001.9:g.154374091T>C	NCBI36
NG_008692.2:g.60104T>C , LRG_254:g.60104T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000504687.7:c.1073T>C	ENSP00000426535.3:p.Val358Ala
ENST00000498722.3:n.863T>C
ENST00000682650.1:c.1608+444T>C	ENSP00000506904.1:n.1608+444T>C
ENST00000683032.1:c.1631T>C	ENSP00000506771.1:p.Val544Ala
ENST00000684195.1:c.1602T>C	ENSP00000508220.1:p.Gly534=
ENST00000361308.9:c.1631T>C	ENSP00000355292.6:p.Val544Ala
ENST00000368300.9:c.1631T>C MANE Select	ENSP00000357283.4:p.Val544Ala
ENST00000496738.6:n.2090T>C
ENST00000674518.1:c.*981T>C	ENSP00000502261.1:n.*981T>C
ENST00000674600.1:c.*1430T>C	ENSP00000501666.1:n.*1430T>C
ENST00000674720.1:c.*193T>C	ENSP00000502798.1:n.*193T>C
ENST00000675431.1:n.1324T>C
ENST00000675455.1:c.*1431T>C	ENSP00000501795.1:n.*1431T>C
ENST00000675667.1:c.1631T>C	ENSP00000501803.1:p.Val544Ala
ENST00000675874.1:c.*1102T>C	ENSP00000501851.1:n.*1102T>C
ENST00000675881.1:c.*642T>C	ENSP00000501670.1:n.*642T>C
ENST00000675939.1:c.1631T>C	ENSP00000502256.1:p.Val544Ala
ENST00000675989.1:n.2490T>C
ENST00000676208.1:c.*734T>C	ENSP00000502468.1:n.*734T>C
ENST00000676283.1:n.2427T>C
ENST00000676385.2:c.1608+444T>C	ENSP00000502091.1:n.1608+444T>C
ENST00000676434.1:c.*642T>C	ENSP00000501648.1:n.*642T>C
ENST00000677389.1:c.1631T>C MANE Plus Clinical	ENSP00000503633.1:p.Val544Ala
ENST00000347559.6:c.1608+444T>C	ENSP00000292304.3:n.1608+444T>C
ENST00000361308.8:c.1376T>C	ENSP00000355292.5:p.Val459Ala
ENST00000368297.5:c.1388T>C	ENSP00000357280.1:p.Val463Ala
ENST00000368299.7:c.1631T>C	ENSP00000357282.3:p.Val544Ala
ENST00000368300.8:c.1631T>C	ENSP00000357283.4:p.Val544Ala
ENST00000368301.6:c.1631T>C	ENSP00000357284.2:p.Val544Ala
ENST00000448611.6:c.1295T>C	ENSP00000395597.2:p.Val432Ala
ENST00000473598.6:c.1334T>C	ENSP00000421821.1:p.Val445Ala
ENST00000496738.5:n.1100T>C
ENST00000498722.2:n.863T>C
ENST00000506981.1:n.215T>C
ENST00000508500.1:c.486+444T>C	ENSP00000424977.1:n.486+444T>C
NM_001257374.2:c.1295T>C	NP_001244303.1:p.Val432Ala
NM_001282624.1:c.1388T>C	NP_001269553.1:p.Val463Ala
NM_001282625.1:c.1631T>C	NP_001269554.1:p.Val544Ala
NM_001282626.1:c.1631T>C	NP_001269555.1:p.Val544Ala
NM_005572.3:c.1631T>C , LRG_254t1:c.1631T>C	NP_005563.1:p.Val544Ala
NM_170707.3:c.1631T>C	NP_733821.1:p.Val544Ala
NM_170708.3:c.1608+444T>C	NP_733822.1:n.1608+444T>C
XM_011509533.1:c.1295T>C	XP_011507835.1:p.Val432Ala
XM_011509534.1:c.1007T>C	XP_011507836.1:p.Val336Ala
XR_921781.1:n.1920T>C
XM_011509534.2:c.1007T>C	XP_011507836.1:p.Val336Ala
XR_921781.2:n.1918T>C
NM_170707.4:c.1631T>C MANE Select	NP_733821.1:p.Val544Ala
NM_001257374.3:c.1295T>C	NP_001244303.1:p.Val432Ala
NM_001282626.2:c.1631T>C	NP_001269555.1:p.Val544Ala
NM_001282624.2:c.1388T>C	NP_001269553.1:p.Val463Ala
NM_001282625.2:c.1631T>C	NP_001269554.1:p.Val544Ala
NM_005572.4:c.1631T>C MANE Plus Clinical	NP_005563.1:p.Val544Ala
NM_170708.4:c.1608+444T>C	NP_733822.1:n.1608+444T>C