Canonical Allele Identifier: CA020344

Gene: LMNA

Linked Data

• ClinVar Variation Id: 66865
• ClinVar RCV Id: RCV000057356
• dbSNP Id: rs267607621
• MyVariant Identifiers: chr1:g.156108342T>C (hg19) ; chr1:g.156138551T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156138551T>C , CM000663.2:g.156138551T>C	GRCh38
NC_000001.10:g.156108342T>C , CM000663.1:g.156108342T>C	GRCh37
NC_000001.9:g.154374966T>C	NCBI36
NG_008692.2:g.60979T>C , LRG_254:g.60979T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.1204T>C	ENSP00000426535.3:p.Cys402Arg
ENST00000682650.1:c.1672T>C	ENSP00000506904.1:p.Cys558Arg
ENST00000683032.1:c.1762T>C	ENSP00000506771.1:p.Cys588Arg
ENST00000683773.1:n.107T>C
ENST00000684195.1:c.*854T>C	ENSP00000508220.1:n.*854T>C
ENST00000361308.9:c.1762T>C	ENSP00000355292.6:p.Cys588Arg
ENST00000368300.9:c.1762T>C MANE Select	ENSP00000357283.4:p.Cys588Arg
ENST00000496738.6:n.2965T>C
ENST00000674518.1:c.*1112T>C	ENSP00000502261.1:n.*1112T>C
ENST00000674600.1:c.*1561T>C	ENSP00000501666.1:n.*1561T>C
ENST00000674720.1:c.*1068T>C	ENSP00000502798.1:n.*1068T>C
ENST00000675455.1:c.*1562T>C	ENSP00000501795.1:n.*1562T>C
ENST00000675667.1:c.1762T>C	ENSP00000501803.1:p.Cys588Arg
ENST00000675874.1:c.*1233T>C	ENSP00000501851.1:n.*1233T>C
ENST00000675881.1:c.*773T>C	ENSP00000501670.1:n.*773T>C
ENST00000675939.1:c.1762T>C	ENSP00000502256.1:p.Cys588Arg
ENST00000675989.1:n.3365T>C
ENST00000676208.1:c.*865T>C	ENSP00000502468.1:n.*865T>C
ENST00000676283.1:n.3302T>C
ENST00000676385.2:c.1672T>C	ENSP00000502091.1:p.Cys558Arg
ENST00000676434.1:c.*1517T>C	ENSP00000501648.1:n.*1517T>C
ENST00000347559.6:c.1672T>C	ENSP00000292304.3:p.Cys558Arg
ENST00000368299.7:c.1762T>C	ENSP00000357282.3:p.Cys588Arg
ENST00000368300.8:c.1762T>C	ENSP00000357283.4:p.Cys588Arg
ENST00000448611.6:c.1426T>C	ENSP00000395597.2:p.Cys476Arg
ENST00000473598.6:c.1465T>C	ENSP00000421821.1:p.Cys489Arg
ENST00000496738.5:n.1975T>C
ENST00000506981.1:n.346T>C
ENST00000508500.1:c.550T>C	ENSP00000424977.1:p.Cys184Arg
NM_001257374.2:c.1426T>C	NP_001244303.1:p.Cys476Arg
NM_001282626.1:c.1762T>C	NP_001269555.1:p.Cys588Arg
NM_170707.3:c.1762T>C	NP_733821.1:p.Cys588Arg
NM_170708.3:c.1672T>C	NP_733822.1:p.Cys558Arg
XM_011509533.1:c.1426T>C	XP_011507835.1:p.Cys476Arg
XM_011509534.1:c.1138T>C	XP_011507836.1:p.Cys380Arg
XR_921781.1:n.2051T>C
XM_011509534.2:c.1138T>C	XP_011507836.1:p.Cys380Arg
XR_921781.2:n.2049T>C
NM_170707.4:c.1762T>C MANE Select	NP_733821.1:p.Cys588Arg
NM_001257374.3:c.1426T>C	NP_001244303.1:p.Cys476Arg
NM_001282626.2:c.1762T>C	NP_001269555.1:p.Cys588Arg
NM_170708.4:c.1672T>C	NP_733822.1:p.Cys558Arg