Canonical Allele Identifier: CA051489

Gene: LMNA

Linked Data

• ClinVar Variation Id: 570722
• ClinVar RCV Id: RCV000691653 ; RCV001183076
• dbSNP Id: rs398124550
• ExAC: 1:156108453 A / T
• gnomAD v2: 1-156108453-A-T
• gnomAD v3: 1-156138662-A-T
• gnomAD v4: 1-156138662-A-T
• MyVariant Identifiers: chr1:g.156108453A>T (hg19) ; chr1:g.156138662A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156138662A>T , CM000663.2:g.156138662A>T	GRCh38
NC_000001.10:g.156108453A>T , CM000663.1:g.156108453A>T	GRCh37
NC_000001.9:g.154375077A>T	NCBI36
NG_008692.2:g.61090A>T , LRG_254:g.61090A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000504687.7:c.1315A>T	ENSP00000426535.3:p.Ser439Cys
ENST00000682650.1:c.1783A>T	ENSP00000506904.1:p.Ser595Cys
ENST00000683032.1:c.1873A>T	ENSP00000506771.1:p.Ser625Cys
ENST00000683773.1:n.163+55A>T
ENST00000684195.1:c.*965A>T	ENSP00000508220.1:n.*965A>T
ENST00000361308.9:c.1873A>T	ENSP00000355292.6:p.Ser625Cys
ENST00000368300.9:c.1873A>T MANE Select	ENSP00000357283.4:p.Ser625Cys
ENST00000674518.1:c.*1223A>T	ENSP00000502261.1:n.*1223A>T
ENST00000674600.1:c.*1672A>T	ENSP00000501666.1:n.*1672A>T
ENST00000675455.1:c.*1673A>T	ENSP00000501795.1:n.*1673A>T
ENST00000675667.1:c.1873A>T	ENSP00000501803.1:p.Ser625Cys
ENST00000675874.1:c.*1344A>T	ENSP00000501851.1:n.*1344A>T
ENST00000675881.1:c.*884A>T	ENSP00000501670.1:n.*884A>T
ENST00000675939.1:c.1873A>T	ENSP00000502256.1:p.Ser625Cys
ENST00000675989.1:n.3476A>T
ENST00000676208.1:c.*976A>T	ENSP00000502468.1:n.*976A>T
ENST00000676385.2:c.1783A>T	ENSP00000502091.1:p.Ser595Cys
ENST00000676434.1:c.*1628A>T	ENSP00000501648.1:n.*1628A>T
ENST00000347559.6:c.1783A>T	ENSP00000292304.3:p.Ser595Cys
ENST00000368299.7:c.1818+55A>T	ENSP00000357282.3:n.1818+55A>T
ENST00000368300.8:c.1873A>T	ENSP00000357283.4:p.Ser625Cys
ENST00000448611.6:c.1537A>T	ENSP00000395597.2:p.Ser513Cys
ENST00000473598.6:c.1576A>T	ENSP00000421821.1:p.Ser526Cys
ENST00000496738.5:n.2086A>T
ENST00000506981.1:n.457A>T
ENST00000508500.1:c.661A>T	ENSP00000424977.1:p.Ser221Cys
NM_001257374.2:c.1537A>T	NP_001244303.1:p.Ser513Cys
NM_001282626.1:c.1818+55A>T	NP_001269555.1:n.1818+55A>T
NM_170707.3:c.1873A>T	NP_733821.1:p.Ser625Cys
NM_170708.3:c.1783A>T	NP_733822.1:p.Ser595Cys
XM_011509533.1:c.1537A>T	XP_011507835.1:p.Ser513Cys
XM_011509534.1:c.1249A>T	XP_011507836.1:p.Ser417Cys
XR_921781.1:n.2162A>T
XM_011509534.2:c.1249A>T	XP_011507836.1:p.Ser417Cys
XR_921781.2:n.2160A>T
NM_170707.4:c.1873A>T MANE Select	NP_733821.1:p.Ser625Cys
NM_001257374.3:c.1537A>T	NP_001244303.1:p.Ser513Cys
NM_001282626.2:c.1818+55A>T	NP_001269555.1:n.1818+55A>T
NM_170708.4:c.1783A>T	NP_733822.1:p.Ser595Cys