Canonical Allele Identifier: CA421257916

Gene: LMNA

Linked Data

• ClinVar Variation Id: 1143807
• ClinVar RCV Id: RCV001482096
• dbSNP Id: rs2102901371
• MyVariant Identifiers: chr1:g.156108338G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156138547G>A , CM000663.2:g.156138547G>A	GRCh38
NC_000001.10:g.156108338G>A , CM000663.1:g.156108338G>A	GRCh37
NC_000001.9:g.154374962G>A	NCBI36
NG_008692.2:g.60975G>A , LRG_254:g.60975G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.1200G>A	ENSP00000426535.3:p.Val400=
ENST00000682650.1:c.1668G>A	ENSP00000506904.1:p.Val556=
ENST00000683032.1:c.1758G>A	ENSP00000506771.1:p.Val586=
ENST00000683773.1:n.103G>A
ENST00000684195.1:c.*850G>A	ENSP00000508220.1:n.*850G>A
ENST00000361308.9:c.1758G>A	ENSP00000355292.6:p.Val586=
ENST00000368300.9:c.1758G>A MANE Select	ENSP00000357283.4:p.Val586=
ENST00000496738.6:n.2961G>A
ENST00000674518.1:c.*1108G>A	ENSP00000502261.1:n.*1108G>A
ENST00000674600.1:c.*1557G>A	ENSP00000501666.1:n.*1557G>A
ENST00000674720.1:c.*1064G>A	ENSP00000502798.1:n.*1064G>A
ENST00000675455.1:c.*1558G>A	ENSP00000501795.1:n.*1558G>A
ENST00000675667.1:c.1758G>A	ENSP00000501803.1:p.Val586=
ENST00000675874.1:c.*1229G>A	ENSP00000501851.1:n.*1229G>A
ENST00000675881.1:c.*769G>A	ENSP00000501670.1:n.*769G>A
ENST00000675939.1:c.1758G>A	ENSP00000502256.1:p.Val586=
ENST00000675989.1:n.3361G>A
ENST00000676208.1:c.*861G>A	ENSP00000502468.1:n.*861G>A
ENST00000676283.1:n.3298G>A
ENST00000676385.2:c.1668G>A	ENSP00000502091.1:p.Val556=
ENST00000676434.1:c.*1513G>A	ENSP00000501648.1:n.*1513G>A
ENST00000347559.6:c.1668G>A	ENSP00000292304.3:p.Val556=
ENST00000368299.7:c.1758G>A	ENSP00000357282.3:p.Val586=
ENST00000368300.8:c.1758G>A	ENSP00000357283.4:p.Val586=
ENST00000448611.6:c.1422G>A	ENSP00000395597.2:p.Val474=
ENST00000473598.6:c.1461G>A	ENSP00000421821.1:p.Val487=
ENST00000496738.5:n.1971G>A
ENST00000506981.1:n.342G>A
ENST00000508500.1:c.546G>A	ENSP00000424977.1:p.Val182=
NM_001257374.2:c.1422G>A	NP_001244303.1:p.Val474=
NM_001282626.1:c.1758G>A	NP_001269555.1:p.Val586=
NM_170707.3:c.1758G>A	NP_733821.1:p.Val586=
NM_170708.3:c.1668G>A	NP_733822.1:p.Val556=
XM_011509533.1:c.1422G>A	XP_011507835.1:p.Val474=
XM_011509534.1:c.1134G>A	XP_011507836.1:p.Val378=
XR_921781.1:n.2047G>A
XM_011509534.2:c.1134G>A	XP_011507836.1:p.Val378=
XR_921781.2:n.2045G>A
NM_170707.4:c.1758G>A MANE Select	NP_733821.1:p.Val586=
NM_001257374.3:c.1422G>A	NP_001244303.1:p.Val474=
NM_001282626.2:c.1758G>A	NP_001269555.1:p.Val586=
NM_170708.4:c.1668G>A	NP_733822.1:p.Val556=