Canonical Allele Identifier: CA020299

Gene: LMNA

Linked Data

• ClinVar Variation Id: 14517
• ClinVar RCV Id: RCV000015612 ; RCV000015613 ; RCV000015614 ; RCV000041329 ; RCV000057351 ; RCV000617932 ; RCV000653881 ; RCV001188887 ; RCV001248900 ; RCV002221478 ; RCV002509159
• dbSNP Id: rs60890628
• ExAC: 1:156108298 C / T
• gnomAD v2: 1-156108298-C-T
• gnomAD v3: 1-156138507-C-T
• gnomAD v4: 1-156138507-C-T
• COSMIC: COSM4698227
• MyVariant Identifiers: chr1:g.156108298C>T (hg19) ; chr1:g.156138507C>T (hg38)
• PubMed: PMID:12628721 ; PMID:16278265 ; PMID:16809772 ; PMID:17250669 ; PMID:17377071 ; PMID:18926329 ; PMID:24503780

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156138507C>T , CM000663.2:g.156138507C>T	GRCh38
NC_000001.10:g.156108298C>T , CM000663.1:g.156108298C>T	GRCh37
NC_000001.9:g.154374922C>T	NCBI36
NG_008692.2:g.60935C>T , LRG_254:g.60935C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000504687.7:c.1160C>T	ENSP00000426535.3:p.Ser387Leu
ENST00000682650.1:c.1628C>T	ENSP00000506904.1:p.Ser543Leu
ENST00000683032.1:c.1718C>T	ENSP00000506771.1:p.Ser573Leu
ENST00000683773.1:n.63C>T
ENST00000684195.1:c.*810C>T	ENSP00000508220.1:n.*810C>T
ENST00000361308.9:c.1718C>T	ENSP00000355292.6:p.Ser573Leu
ENST00000368300.9:c.1718C>T MANE Select	ENSP00000357283.4:p.Ser573Leu
ENST00000496738.6:n.2921C>T
ENST00000674518.1:c.*1068C>T	ENSP00000502261.1:n.*1068C>T
ENST00000674600.1:c.*1517C>T	ENSP00000501666.1:n.*1517C>T
ENST00000674720.1:c.*1024C>T	ENSP00000502798.1:n.*1024C>T
ENST00000675455.1:c.*1518C>T	ENSP00000501795.1:n.*1518C>T
ENST00000675667.1:c.1718C>T	ENSP00000501803.1:p.Ser573Leu
ENST00000675874.1:c.*1189C>T	ENSP00000501851.1:n.*1189C>T
ENST00000675881.1:c.*729C>T	ENSP00000501670.1:n.*729C>T
ENST00000675939.1:c.1718C>T	ENSP00000502256.1:p.Ser573Leu
ENST00000675989.1:n.3321C>T
ENST00000676208.1:c.*821C>T	ENSP00000502468.1:n.*821C>T
ENST00000676283.1:n.3258C>T
ENST00000676385.2:c.1628C>T	ENSP00000502091.1:p.Ser543Leu
ENST00000676434.1:c.*1473C>T	ENSP00000501648.1:n.*1473C>T
ENST00000347559.6:c.1628C>T	ENSP00000292304.3:p.Ser543Leu
ENST00000368299.7:c.1718C>T	ENSP00000357282.3:p.Ser573Leu
ENST00000368300.8:c.1718C>T	ENSP00000357283.4:p.Ser573Leu
ENST00000448611.6:c.1382C>T	ENSP00000395597.2:p.Ser461Leu
ENST00000473598.6:c.1421C>T	ENSP00000421821.1:p.Ser474Leu
ENST00000496738.5:n.1931C>T
ENST00000506981.1:n.302C>T
ENST00000508500.1:c.506C>T	ENSP00000424977.1:p.Ser169Leu
NM_001257374.2:c.1382C>T	NP_001244303.1:p.Ser461Leu
NM_001282626.1:c.1718C>T	NP_001269555.1:p.Ser573Leu
NM_170707.3:c.1718C>T	NP_733821.1:p.Ser573Leu
NM_170708.3:c.1628C>T	NP_733822.1:p.Ser543Leu
XM_011509533.1:c.1382C>T	XP_011507835.1:p.Ser461Leu
XM_011509534.1:c.1094C>T	XP_011507836.1:p.Ser365Leu
XR_921781.1:n.2007C>T
XM_011509534.2:c.1094C>T	XP_011507836.1:p.Ser365Leu
XR_921781.2:n.2005C>T
NM_170707.4:c.1718C>T MANE Select	NP_733821.1:p.Ser573Leu
NM_001257374.3:c.1382C>T	NP_001244303.1:p.Ser461Leu
NM_001282626.2:c.1718C>T	NP_001269555.1:p.Ser573Leu
NM_170708.4:c.1628C>T	NP_733822.1:p.Ser543Leu