Canonical Allele Identifier: CA342817282

Gene: LMNA

Linked Data

• ClinVar Variation Id: 948747
• ClinVar RCV Id: RCV001220064
• dbSNP Id: rs1572359925
• MyVariant Identifiers: chr1:g.156104684A>T (hg19) ; chr1:g.156134893A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156134893A>T , CM000663.2:g.156134893A>T	GRCh38
NC_000001.10:g.156104684A>T , CM000663.1:g.156104684A>T	GRCh37
NC_000001.9:g.154371308A>T	NCBI36
NG_008692.2:g.57321A>T , LRG_254:g.57321A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000504687.7:c.170A>T	ENSP00000426535.3:p.Asp57Val
ENST00000682650.1:c.728A>T	ENSP00000506904.1:p.Asp243Val
ENST00000683032.1:c.728A>T	ENSP00000506771.1:p.Asp243Val
ENST00000684195.1:c.728A>T	ENSP00000508220.1:p.Asp243Val
ENST00000361308.9:c.728A>T	ENSP00000355292.6:p.Asp243Val
ENST00000368300.9:c.728A>T MANE Select	ENSP00000357283.4:p.Asp243Val
ENST00000496738.6:n.1103A>T
ENST00000504687.6:c.64A>T	ENSP00000426535.2:p.Met22Leu
ENST00000674518.1:c.*78A>T	ENSP00000502261.1:n.*78A>T
ENST00000674600.1:c.*527A>T	ENSP00000501666.1:n.*527A>T
ENST00000674720.1:c.728A>T	ENSP00000502798.1:p.Asp243Val
ENST00000675431.1:n.421A>T
ENST00000675455.1:c.*528A>T	ENSP00000501795.1:n.*528A>T
ENST00000675667.1:c.728A>T	ENSP00000501803.1:p.Asp243Val
ENST00000675874.1:c.*199A>T	ENSP00000501851.1:n.*199A>T
ENST00000675881.1:c.728A>T	ENSP00000501670.1:p.Asp243Val
ENST00000675939.1:c.728A>T	ENSP00000502256.1:p.Asp243Val
ENST00000675989.1:n.1103A>T
ENST00000676208.1:c.728A>T	ENSP00000502468.1:p.Asp243Val
ENST00000676283.1:n.1103A>T
ENST00000676385.2:c.728A>T	ENSP00000502091.1:p.Asp243Val
ENST00000676434.1:c.728A>T	ENSP00000501648.1:p.Asp243Val
ENST00000677389.1:c.728A>T MANE Plus Clinical	ENSP00000503633.1:p.Asp243Val
ENST00000347559.6:c.728A>T	ENSP00000292304.3:p.Asp243Val
ENST00000361308.8:c.728A>T	ENSP00000355292.5:p.Asp243Val
ENST00000368297.5:c.485A>T	ENSP00000357280.1:p.Asp162Val
ENST00000368299.7:c.728A>T	ENSP00000357282.3:p.Asp243Val
ENST00000368300.8:c.728A>T	ENSP00000357283.4:p.Asp243Val
ENST00000368301.6:c.728A>T	ENSP00000357284.2:p.Asp243Val
ENST00000448611.6:c.392A>T	ENSP00000395597.2:p.Asp131Val
ENST00000473598.6:c.431A>T	ENSP00000421821.1:p.Asp144Val
ENST00000496738.5:n.73A>T
ENST00000504687.5:c.479A>T	ENSP00000426535.1:p.Asp160Val
ENST00000515459.5:c.*402A>T	ENSP00000424518.1:n.*402A>T
ENST00000515824.1:n.89A>T
NM_001257374.2:c.392A>T	NP_001244303.1:p.Asp131Val
NM_001282624.1:c.485A>T	NP_001269553.1:p.Asp162Val
NM_001282625.1:c.728A>T	NP_001269554.1:p.Asp243Val
NM_001282626.1:c.728A>T	NP_001269555.1:p.Asp243Val
NM_005572.3:c.728A>T , LRG_254t1:c.728A>T	NP_005563.1:p.Asp243Val
NM_170707.3:c.728A>T	NP_733821.1:p.Asp243Val
NM_170708.3:c.728A>T	NP_733822.1:p.Asp243Val
XM_011509533.1:c.392A>T	XP_011507835.1:p.Asp131Val
XM_011509534.1:c.64A>T	XP_011507836.1:p.Met22Leu
XR_921781.1:n.977A>T
XM_011509534.2:c.64A>T	XP_011507836.1:p.Met22Leu
XR_921781.2:n.975A>T
NM_170707.4:c.728A>T MANE Select	NP_733821.1:p.Asp243Val
NM_001257374.3:c.392A>T	NP_001244303.1:p.Asp131Val
NM_001282626.2:c.728A>T	NP_001269555.1:p.Asp243Val
NM_001282624.2:c.485A>T	NP_001269553.1:p.Asp162Val
NM_001282625.2:c.728A>T	NP_001269554.1:p.Asp243Val
NM_005572.4:c.728A>T MANE Plus Clinical	NP_005563.1:p.Asp243Val
NM_170708.4:c.728A>T	NP_733822.1:p.Asp243Val