Canonical Allele Identifier: CA342823542

Gene: LMNA

Linked Data

• dbSNP Id: rs1171883549
• gnomAD v4: 1-156137215-A-G
• MyVariant Identifiers: chr1:g.156107006A>G (hg19) ; chr1:g.156137215A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156137215A>G , CM000663.2:g.156137215A>G	GRCh38
NC_000001.10:g.156107006A>G , CM000663.1:g.156107006A>G	GRCh37
NC_000001.9:g.154373630A>G	NCBI36
NG_008692.2:g.59643A>G , LRG_254:g.59643A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000504687.7:c.1033A>G	ENSP00000426535.3:p.Ile345Val
ENST00000459904.2:n.839A>G
ENST00000498722.3:n.823A>G
ENST00000682650.1:c.1591A>G	ENSP00000506904.1:p.Ile531Val
ENST00000683032.1:c.1591A>G	ENSP00000506771.1:p.Ile531Val
ENST00000684195.1:c.1579+12A>G	ENSP00000508220.1:n.1579+12A>G
ENST00000361308.9:c.1591A>G	ENSP00000355292.6:p.Ile531Val
ENST00000368300.9:c.1591A>G MANE Select	ENSP00000357283.4:p.Ile531Val
ENST00000496738.6:n.2050A>G
ENST00000674518.1:c.*941A>G	ENSP00000502261.1:n.*941A>G
ENST00000674600.1:c.*1390A>G	ENSP00000501666.1:n.*1390A>G
ENST00000674720.1:c.*153A>G	ENSP00000502798.1:n.*153A>G
ENST00000675431.1:n.1284A>G
ENST00000675455.1:c.*1391A>G	ENSP00000501795.1:n.*1391A>G
ENST00000675667.1:c.1591A>G	ENSP00000501803.1:p.Ile531Val
ENST00000675874.1:c.*1062A>G	ENSP00000501851.1:n.*1062A>G
ENST00000675881.1:c.*602A>G	ENSP00000501670.1:n.*602A>G
ENST00000675939.1:c.1591A>G	ENSP00000502256.1:p.Ile531Val
ENST00000675989.1:n.2450A>G
ENST00000676208.1:c.*694A>G	ENSP00000502468.1:n.*694A>G
ENST00000676283.1:n.1966A>G
ENST00000676385.2:c.1591A>G	ENSP00000502091.1:p.Ile531Val
ENST00000676434.1:c.*602A>G	ENSP00000501648.1:n.*602A>G
ENST00000677389.1:c.1591A>G MANE Plus Clinical	ENSP00000503633.1:p.Ile531Val
ENST00000347559.6:c.1591A>G	ENSP00000292304.3:p.Ile531Val
ENST00000361308.8:c.1336A>G	ENSP00000355292.5:p.Ile446Val
ENST00000368297.5:c.1348A>G	ENSP00000357280.1:p.Ile450Val
ENST00000368298.2:n.1423A>G
ENST00000368299.7:c.1591A>G	ENSP00000357282.3:p.Ile531Val
ENST00000368300.8:c.1591A>G	ENSP00000357283.4:p.Ile531Val
ENST00000368301.6:c.1591A>G	ENSP00000357284.2:p.Ile531Val
ENST00000448611.6:c.1255A>G	ENSP00000395597.2:p.Ile419Val
ENST00000459904.1:n.839A>G
ENST00000473598.6:c.1294A>G	ENSP00000421821.1:p.Ile432Val
ENST00000496738.5:n.1060A>G
ENST00000498722.2:n.823A>G
ENST00000508500.1:c.469A>G	ENSP00000424977.1:p.Ile157Val
NM_001257374.2:c.1255A>G	NP_001244303.1:p.Ile419Val
NM_001282624.1:c.1348A>G	NP_001269553.1:p.Ile450Val
NM_001282625.1:c.1591A>G	NP_001269554.1:p.Ile531Val
NM_001282626.1:c.1591A>G	NP_001269555.1:p.Ile531Val
NM_005572.3:c.1591A>G , LRG_254t1:c.1591A>G	NP_005563.1:p.Ile531Val
NM_170707.3:c.1591A>G	NP_733821.1:p.Ile531Val
NM_170708.3:c.1591A>G	NP_733822.1:p.Ile531Val
XM_011509533.1:c.1255A>G	XP_011507835.1:p.Ile419Val
XM_011509534.1:c.967A>G	XP_011507836.1:p.Ile323Val
XR_921781.1:n.1880A>G
XM_011509534.2:c.967A>G	XP_011507836.1:p.Ile323Val
XR_921781.2:n.1878A>G
NM_170707.4:c.1591A>G MANE Select	NP_733821.1:p.Ile531Val
NM_001257374.3:c.1255A>G	NP_001244303.1:p.Ile419Val
NM_001282626.2:c.1591A>G	NP_001269555.1:p.Ile531Val
NM_001282624.2:c.1348A>G	NP_001269553.1:p.Ile450Val
NM_001282625.2:c.1591A>G	NP_001269554.1:p.Ile531Val
NM_005572.4:c.1591A>G MANE Plus Clinical	NP_005563.1:p.Ile531Val
NM_170708.4:c.1591A>G	NP_733822.1:p.Ile531Val