Canonical Allele Identifier: CA342814969

Gene: LMNA

Linked Data

• MyVariant Identifiers: chr1:g.156100410A>T (hg19) ; chr1:g.156130619A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156130619A>T , CM000663.2:g.156130619A>T	GRCh38
NC_000001.10:g.156100410A>T , CM000663.1:g.156100410A>T	GRCh37
NC_000001.9:g.154367034A>T	NCBI36
NG_008692.2:g.53047A>T , LRG_254:g.53047A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.-200A>T	ENSP00000426535.3:n.-200A>T
ENST00000682650.1:c.359A>T	ENSP00000506904.1:p.Asn120Ile
ENST00000683032.1:c.359A>T	ENSP00000506771.1:p.Asn120Ile
ENST00000684195.1:c.359A>T	ENSP00000508220.1:p.Asn120Ile
ENST00000361308.9:c.359A>T	ENSP00000355292.6:p.Asn120Ile
ENST00000368300.9:c.359A>T MANE Select	ENSP00000357283.4:p.Asn120Ile
ENST00000496738.6:n.734A>T
ENST00000504687.6:c.-306A>T	ENSP00000426535.2:n.-306A>T
ENST00000674518.1:c.359A>T	ENSP00000502261.1:p.Asn120Ile
ENST00000674600.1:c.*158A>T	ENSP00000501666.1:n.*158A>T
ENST00000674720.1:c.359A>T	ENSP00000502798.1:p.Asn120Ile
ENST00000675431.1:n.52A>T
ENST00000675455.1:c.*159A>T	ENSP00000501795.1:n.*159A>T
ENST00000675667.1:c.359A>T	ENSP00000501803.1:p.Asn120Ile
ENST00000675874.1:c.357-3784A>T	ENSP00000501851.1:n.357-3784A>T
ENST00000675881.1:c.359A>T	ENSP00000501670.1:p.Asn120Ile
ENST00000675939.1:c.359A>T	ENSP00000502256.1:p.Asn120Ile
ENST00000675989.1:n.734A>T
ENST00000676208.1:c.359A>T	ENSP00000502468.1:p.Asn120Ile
ENST00000676283.1:n.734A>T
ENST00000676385.2:c.359A>T	ENSP00000502091.1:p.Asn120Ile
ENST00000676434.1:c.359A>T	ENSP00000501648.1:p.Asn120Ile
ENST00000677389.1:c.359A>T MANE Plus Clinical	ENSP00000503633.1:p.Asn120Ile
ENST00000347559.6:c.359A>T	ENSP00000292304.3:p.Asn120Ile
ENST00000361308.8:c.359A>T	ENSP00000355292.5:p.Asn120Ile
ENST00000368297.5:c.116A>T	ENSP00000357280.1:p.Asn39Ile
ENST00000368299.7:c.359A>T	ENSP00000357282.3:p.Asn120Ile
ENST00000368300.8:c.359A>T	ENSP00000357283.4:p.Asn120Ile
ENST00000368301.6:c.359A>T	ENSP00000357284.2:p.Asn120Ile
ENST00000448611.6:c.23A>T	ENSP00000395597.2:p.Asn8Ile
ENST00000469565.6:n.393A>T
ENST00000470199.2:n.357-56A>T
ENST00000473598.6:c.62A>T	ENSP00000421821.1:p.Asn21Ile
ENST00000502357.5:n.257A>T
ENST00000502751.5:n.331A>T
ENST00000504687.5:c.110A>T	ENSP00000426535.1:p.Asn37Ile
ENST00000515459.5:c.*33A>T	ENSP00000424518.1:n.*33A>T
NM_001257374.2:c.23A>T	NP_001244303.1:p.Asn8Ile
NM_001282624.1:c.116A>T	NP_001269553.1:p.Asn39Ile
NM_001282625.1:c.359A>T	NP_001269554.1:p.Asn120Ile
NM_001282626.1:c.359A>T	NP_001269555.1:p.Asn120Ile
NM_005572.3:c.359A>T , LRG_254t1:c.359A>T	NP_005563.1:p.Asn120Ile
NM_170707.3:c.359A>T	NP_733821.1:p.Asn120Ile
NM_170708.3:c.359A>T	NP_733822.1:p.Asn120Ile
XM_011509533.1:c.23A>T	XP_011507835.1:p.Asn8Ile
XM_011509534.1:c.-306A>T	XP_011507836.1:n.-306A>T
XR_921781.1:n.608A>T
XM_011509534.2:c.-306A>T	XP_011507836.1:n.-306A>T
XR_921781.2:n.606A>T
NM_170707.4:c.359A>T MANE Select	NP_733821.1:p.Asn120Ile
NM_001257374.3:c.23A>T	NP_001244303.1:p.Asn8Ile
NM_001282626.2:c.359A>T	NP_001269555.1:p.Asn120Ile
NM_001282624.2:c.116A>T	NP_001269553.1:p.Asn39Ile
NM_001282625.2:c.359A>T	NP_001269554.1:p.Asn120Ile
NM_005572.4:c.359A>T MANE Plus Clinical	NP_005563.1:p.Asn120Ile
NM_170708.4:c.359A>T	NP_733822.1:p.Asn120Ile