Canonical Allele Identifier: CA015260

Gene: LMNA

Linked Data

• ClinVar Variation Id: 66870
• ClinVar RCV Id: RCV002514283 ; RCV003227630
• dbSNP Id: rs13768
• ExAC: 1:156108451 G / A
• gnomAD v2: 1-156108451-G-A
• gnomAD v3: 1-156138660-G-A
• gnomAD v4: 1-156138660-G-A
• COSMIC: COSM4023189
• MyVariant Identifiers: chr1:g.156108451G>A (hg19) ; chr1:g.156138660G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156138660G>A , CM000663.2:g.156138660G>A	GRCh38
NC_000001.10:g.156108451G>A , CM000663.1:g.156108451G>A	GRCh37
NC_000001.9:g.154375075G>A	NCBI36
NG_008692.2:g.61088G>A , LRG_254:g.61088G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000504687.7:c.1313G>A	ENSP00000426535.3:p.Arg438His
ENST00000682650.1:c.1781G>A	ENSP00000506904.1:p.Arg594His
ENST00000683032.1:c.1871G>A	ENSP00000506771.1:p.Arg624His
ENST00000683773.1:n.163+53G>A
ENST00000684195.1:c.*963G>A	ENSP00000508220.1:n.*963G>A
ENST00000361308.9:c.1871G>A	ENSP00000355292.6:p.Arg624His
ENST00000368300.9:c.1871G>A MANE Select	ENSP00000357283.4:p.Arg624His
ENST00000674518.1:c.*1221G>A	ENSP00000502261.1:n.*1221G>A
ENST00000674600.1:c.*1670G>A	ENSP00000501666.1:n.*1670G>A
ENST00000675455.1:c.*1671G>A	ENSP00000501795.1:n.*1671G>A
ENST00000675667.1:c.1871G>A	ENSP00000501803.1:p.Arg624His
ENST00000675874.1:c.*1342G>A	ENSP00000501851.1:n.*1342G>A
ENST00000675881.1:c.*882G>A	ENSP00000501670.1:n.*882G>A
ENST00000675939.1:c.1871G>A	ENSP00000502256.1:p.Arg624His
ENST00000675989.1:n.3474G>A
ENST00000676208.1:c.*974G>A	ENSP00000502468.1:n.*974G>A
ENST00000676385.2:c.1781G>A	ENSP00000502091.1:p.Arg594His
ENST00000676434.1:c.*1626G>A	ENSP00000501648.1:n.*1626G>A
ENST00000347559.6:c.1781G>A	ENSP00000292304.3:p.Arg594His
ENST00000368299.7:c.1818+53G>A	ENSP00000357282.3:n.1818+53G>A
ENST00000368300.8:c.1871G>A	ENSP00000357283.4:p.Arg624His
ENST00000448611.6:c.1535G>A	ENSP00000395597.2:p.Arg512His
ENST00000473598.6:c.1574G>A	ENSP00000421821.1:p.Arg525His
ENST00000496738.5:n.2084G>A
ENST00000506981.1:n.455G>A
ENST00000508500.1:c.659G>A	ENSP00000424977.1:p.Arg220His
NM_001257374.2:c.1535G>A	NP_001244303.1:p.Arg512His
NM_001282626.1:c.1818+53G>A	NP_001269555.1:n.1818+53G>A
NM_170707.3:c.1871G>A	NP_733821.1:p.Arg624His
NM_170708.3:c.1781G>A	NP_733822.1:p.Arg594His
XM_011509533.1:c.1535G>A	XP_011507835.1:p.Arg512His
XM_011509534.1:c.1247G>A	XP_011507836.1:p.Arg416His
XR_921781.1:n.2160G>A
XM_011509534.2:c.1247G>A	XP_011507836.1:p.Arg416His
XR_921781.2:n.2158G>A
NM_170707.4:c.1871G>A MANE Select	NP_733821.1:p.Arg624His
NM_001257374.3:c.1535G>A	NP_001244303.1:p.Arg512His
NM_001282626.2:c.1818+53G>A	NP_001269555.1:n.1818+53G>A
NM_170708.4:c.1781G>A	NP_733822.1:p.Arg594His