Canonical Allele Identifier: CA051536

Gene: LMNA

Linked Data

• ClinVar Variation Id: 1018228
• ClinVar RCV Id: RCV001317497 ; RCV003532944
• dbSNP Id: rs745997478
• ExAC: 1:156108460 G / C
• gnomAD v2: 1-156108460-G-C
• MyVariant Identifiers: chr1:g.156108460G>C (hg19) ; chr1:g.156138669G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156138669G>C , CM000663.2:g.156138669G>C	GRCh38
NC_000001.10:g.156108460G>C , CM000663.1:g.156108460G>C	GRCh37
NC_000001.9:g.154375084G>C	NCBI36
NG_008692.2:g.61097G>C , LRG_254:g.61097G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000504687.7:c.1322G>C	ENSP00000426535.3:p.Arg441Pro
ENST00000682650.1:c.1790G>C	ENSP00000506904.1:p.Arg597Pro
ENST00000683032.1:c.1880G>C	ENSP00000506771.1:p.Arg627Pro
ENST00000683773.1:n.163+62G>C
ENST00000684195.1:c.*972G>C	ENSP00000508220.1:n.*972G>C
ENST00000361308.9:c.1880G>C	ENSP00000355292.6:p.Arg627Pro
ENST00000368300.9:c.1880G>C MANE Select	ENSP00000357283.4:p.Arg627Pro
ENST00000674518.1:c.*1230G>C	ENSP00000502261.1:n.*1230G>C
ENST00000674600.1:c.*1679G>C	ENSP00000501666.1:n.*1679G>C
ENST00000675455.1:c.*1680G>C	ENSP00000501795.1:n.*1680G>C
ENST00000675667.1:c.1880G>C	ENSP00000501803.1:p.Arg627Pro
ENST00000675874.1:c.*1351G>C	ENSP00000501851.1:n.*1351G>C
ENST00000675881.1:c.*891G>C	ENSP00000501670.1:n.*891G>C
ENST00000675939.1:c.1880G>C	ENSP00000502256.1:p.Arg627Pro
ENST00000675989.1:n.3483G>C
ENST00000676208.1:c.*983G>C	ENSP00000502468.1:n.*983G>C
ENST00000676385.2:c.1790G>C	ENSP00000502091.1:p.Arg597Pro
ENST00000676434.1:c.*1635G>C	ENSP00000501648.1:n.*1635G>C
ENST00000347559.6:c.1790G>C	ENSP00000292304.3:p.Arg597Pro
ENST00000368299.7:c.1818+62G>C	ENSP00000357282.3:n.1818+62G>C
ENST00000368300.8:c.1880G>C	ENSP00000357283.4:p.Arg627Pro
ENST00000448611.6:c.1544G>C	ENSP00000395597.2:p.Arg515Pro
ENST00000473598.6:c.1583G>C	ENSP00000421821.1:p.Arg528Pro
ENST00000496738.5:n.2093G>C
ENST00000506981.1:n.464G>C
ENST00000508500.1:c.668G>C	ENSP00000424977.1:p.Arg223Pro
NM_001257374.2:c.1544G>C	NP_001244303.1:p.Arg515Pro
NM_001282626.1:c.1818+62G>C	NP_001269555.1:n.1818+62G>C
NM_170707.3:c.1880G>C	NP_733821.1:p.Arg627Pro
NM_170708.3:c.1790G>C	NP_733822.1:p.Arg597Pro
XM_011509533.1:c.1544G>C	XP_011507835.1:p.Arg515Pro
XM_011509534.1:c.1256G>C	XP_011507836.1:p.Arg419Pro
XR_921781.1:n.2169G>C
XM_011509534.2:c.1256G>C	XP_011507836.1:p.Arg419Pro
XR_921781.2:n.2167G>C
NM_170707.4:c.1880G>C MANE Select	NP_733821.1:p.Arg627Pro
NM_001257374.3:c.1544G>C	NP_001244303.1:p.Arg515Pro
NM_001282626.2:c.1818+62G>C	NP_001269555.1:n.1818+62G>C
NM_170708.4:c.1790G>C	NP_733822.1:p.Arg597Pro