Canonical Allele Identifier: CA017615

Gene: LMNA

Linked Data

• ClinVar Variation Id: 48046
• ClinVar RCV Id: RCV000057343 ; RCV000041325 ; RCV000211786 ; RCV000242991 ; RCV000462793
• dbSNP Id: rs56984562
• gnomAD v4: 1-156137666-C-T
• MyVariant Identifiers: chr1:g.156107457C>T (hg19) ; chr1:g.156137666C>T (hg38)
• PubMed: PMID:14675861 ; PMID:15372542 ; PMID:16061563 ; PMID:18031519 ; PMID:18035086 ; PMID:18564364 ; PMID:19167105 ; PMID:21085127 ; PMID:23891399 ; PMID:24375749 ; PMID:24503780 ; PMID:24623722

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156137666C>T , CM000663.2:g.156137666C>T	GRCh38
NC_000001.10:g.156107457C>T , CM000663.1:g.156107457C>T	GRCh37
NC_000001.9:g.154374081C>T	NCBI36
NG_008692.2:g.60094C>T , LRG_254:g.60094C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.1063C>T	ENSP00000426535.3:p.Arg355Cys
ENST00000498722.3:n.853C>T
ENST00000682650.1:c.1608+434C>T	ENSP00000506904.1:n.1608+434C>T
ENST00000683032.1:c.1621C>T	ENSP00000506771.1:p.Arg541Cys
ENST00000684195.1:c.1592C>T	ENSP00000508220.1:p.Ala531Val
ENST00000361308.9:c.1621C>T	ENSP00000355292.6:p.Arg541Cys
ENST00000368300.9:c.1621C>T MANE Select	ENSP00000357283.4:p.Arg541Cys
ENST00000496738.6:n.2080C>T
ENST00000674518.1:c.*971C>T	ENSP00000502261.1:n.*971C>T
ENST00000674600.1:c.*1420C>T	ENSP00000501666.1:n.*1420C>T
ENST00000674720.1:c.*183C>T	ENSP00000502798.1:n.*183C>T
ENST00000675431.1:n.1314C>T
ENST00000675455.1:c.*1421C>T	ENSP00000501795.1:n.*1421C>T
ENST00000675667.1:c.1621C>T	ENSP00000501803.1:p.Arg541Cys
ENST00000675874.1:c.*1092C>T	ENSP00000501851.1:n.*1092C>T
ENST00000675881.1:c.*632C>T	ENSP00000501670.1:n.*632C>T
ENST00000675939.1:c.1621C>T	ENSP00000502256.1:p.Arg541Cys
ENST00000675989.1:n.2480C>T
ENST00000676208.1:c.*724C>T	ENSP00000502468.1:n.*724C>T
ENST00000676283.1:n.2417C>T
ENST00000676385.2:c.1608+434C>T	ENSP00000502091.1:n.1608+434C>T
ENST00000676434.1:c.*632C>T	ENSP00000501648.1:n.*632C>T
ENST00000677389.1:c.1621C>T MANE Plus Clinical	ENSP00000503633.1:p.Arg541Cys
ENST00000347559.6:c.1608+434C>T	ENSP00000292304.3:n.1608+434C>T
ENST00000361308.8:c.1366C>T	ENSP00000355292.5:p.Arg456Cys
ENST00000368297.5:c.1378C>T	ENSP00000357280.1:p.Arg460Cys
ENST00000368299.7:c.1621C>T	ENSP00000357282.3:p.Arg541Cys
ENST00000368300.8:c.1621C>T	ENSP00000357283.4:p.Arg541Cys
ENST00000368301.6:c.1621C>T	ENSP00000357284.2:p.Arg541Cys
ENST00000448611.6:c.1285C>T	ENSP00000395597.2:p.Arg429Cys
ENST00000473598.6:c.1324C>T	ENSP00000421821.1:p.Arg442Cys
ENST00000496738.5:n.1090C>T
ENST00000498722.2:n.853C>T
ENST00000506981.1:n.205C>T
ENST00000508500.1:c.486+434C>T	ENSP00000424977.1:n.486+434C>T
NM_001257374.2:c.1285C>T	NP_001244303.1:p.Arg429Cys
NM_001282624.1:c.1378C>T	NP_001269553.1:p.Arg460Cys
NM_001282625.1:c.1621C>T	NP_001269554.1:p.Arg541Cys
NM_001282626.1:c.1621C>T	NP_001269555.1:p.Arg541Cys
NM_005572.3:c.1621C>T , LRG_254t1:c.1621C>T	NP_005563.1:p.Arg541Cys
NM_170707.3:c.1621C>T	NP_733821.1:p.Arg541Cys
NM_170708.3:c.1608+434C>T	NP_733822.1:n.1608+434C>T
XM_011509533.1:c.1285C>T	XP_011507835.1:p.Arg429Cys
XM_011509534.1:c.997C>T	XP_011507836.1:p.Arg333Cys
XR_921781.1:n.1910C>T
XM_011509534.2:c.997C>T	XP_011507836.1:p.Arg333Cys
XR_921781.2:n.1908C>T
NM_170707.4:c.1621C>T MANE Select	NP_733821.1:p.Arg541Cys
NM_001257374.3:c.1285C>T	NP_001244303.1:p.Arg429Cys
NM_001282626.2:c.1621C>T	NP_001269555.1:p.Arg541Cys
NM_001282624.2:c.1378C>T	NP_001269553.1:p.Arg460Cys
NM_001282625.2:c.1621C>T	NP_001269554.1:p.Arg541Cys
NM_005572.4:c.1621C>T MANE Plus Clinical	NP_005563.1:p.Arg541Cys
NM_170708.4:c.1608+434C>T	NP_733822.1:n.1608+434C>T