Canonical Allele Identifier: CA054086

Gene: LMNA

Linked Data

• ClinVar Variation Id: 415346
• ClinVar RCV Id: RCV001455501
• dbSNP Id: rs769896881
• ExAC: 1:156104637 G / A
• gnomAD v2: 1-156104637-G-A
• gnomAD v3: 1-156134846-G-A
• gnomAD v4: 1-156134846-G-A
• MyVariant Identifiers: chr1:g.156104637G>A (hg19) ; chr1:g.156134846G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156134846G>A , CM000663.2:g.156134846G>A	GRCh38
NC_000001.10:g.156104637G>A , CM000663.1:g.156104637G>A	GRCh37
NC_000001.9:g.154371261G>A	NCBI36
NG_008692.2:g.57274G>A , LRG_254:g.57274G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000504687.7:c.123G>A	ENSP00000426535.3:p.Val41=
ENST00000682650.1:c.681G>A	ENSP00000506904.1:p.Val227=
ENST00000683032.1:c.681G>A	ENSP00000506771.1:p.Val227=
ENST00000684195.1:c.681G>A	ENSP00000508220.1:p.Val227=
ENST00000361308.9:c.681G>A	ENSP00000355292.6:p.Val227=
ENST00000368300.9:c.681G>A MANE Select	ENSP00000357283.4:p.Val227=
ENST00000496738.6:n.1056G>A
ENST00000504687.6:c.17G>A	ENSP00000426535.2:p.Trp6Ter
ENST00000674518.1:c.*31G>A	ENSP00000502261.1:n.*31G>A
ENST00000674600.1:c.*480G>A	ENSP00000501666.1:n.*480G>A
ENST00000674720.1:c.681G>A	ENSP00000502798.1:p.Val227=
ENST00000675431.1:n.374G>A
ENST00000675455.1:c.*481G>A	ENSP00000501795.1:n.*481G>A
ENST00000675667.1:c.681G>A	ENSP00000501803.1:p.Val227=
ENST00000675874.1:c.*152G>A	ENSP00000501851.1:n.*152G>A
ENST00000675881.1:c.681G>A	ENSP00000501670.1:p.Val227=
ENST00000675939.1:c.681G>A	ENSP00000502256.1:p.Val227=
ENST00000675989.1:n.1056G>A
ENST00000676208.1:c.681G>A	ENSP00000502468.1:p.Val227=
ENST00000676283.1:n.1056G>A
ENST00000676385.2:c.681G>A	ENSP00000502091.1:p.Val227=
ENST00000676434.1:c.681G>A	ENSP00000501648.1:p.Val227=
ENST00000677389.1:c.681G>A MANE Plus Clinical	ENSP00000503633.1:p.Val227=
ENST00000347559.6:c.681G>A	ENSP00000292304.3:p.Val227=
ENST00000361308.8:c.681G>A	ENSP00000355292.5:p.Val227=
ENST00000368297.5:c.438G>A	ENSP00000357280.1:p.Val146=
ENST00000368299.7:c.681G>A	ENSP00000357282.3:p.Val227=
ENST00000368300.8:c.681G>A	ENSP00000357283.4:p.Val227=
ENST00000368301.6:c.681G>A	ENSP00000357284.2:p.Val227=
ENST00000448611.6:c.345G>A	ENSP00000395597.2:p.Val115=
ENST00000473598.6:c.384G>A	ENSP00000421821.1:p.Val128=
ENST00000496738.5:n.26G>A
ENST00000504687.5:c.432G>A	ENSP00000426535.1:p.Val144=
ENST00000515459.5:c.*355G>A	ENSP00000424518.1:n.*355G>A
ENST00000515824.1:n.42G>A
NM_001257374.2:c.345G>A	NP_001244303.1:p.Val115=
NM_001282624.1:c.438G>A	NP_001269553.1:p.Val146=
NM_001282625.1:c.681G>A	NP_001269554.1:p.Val227=
NM_001282626.1:c.681G>A	NP_001269555.1:p.Val227=
NM_005572.3:c.681G>A , LRG_254t1:c.681G>A	NP_005563.1:p.Val227=
NM_170707.3:c.681G>A	NP_733821.1:p.Val227=
NM_170708.3:c.681G>A	NP_733822.1:p.Val227=
XM_011509533.1:c.345G>A	XP_011507835.1:p.Val115=
XM_011509534.1:c.17G>A	XP_011507836.1:p.Trp6Ter
XR_921781.1:n.930G>A
XM_011509534.2:c.17G>A	XP_011507836.1:p.Trp6Ter
XR_921781.2:n.928G>A
NM_170707.4:c.681G>A MANE Select	NP_733821.1:p.Val227=
NM_001257374.3:c.345G>A	NP_001244303.1:p.Val115=
NM_001282626.2:c.681G>A	NP_001269555.1:p.Val227=
NM_001282624.2:c.438G>A	NP_001269553.1:p.Val146=
NM_001282625.2:c.681G>A	NP_001269554.1:p.Val227=
NM_005572.4:c.681G>A MANE Plus Clinical	NP_005563.1:p.Val227=
NM_170708.4:c.681G>A	NP_733822.1:p.Val227=