Canonical Allele Identifier: CA342825888

Gene: LMNA

Linked Data

• ClinVar Variation Id: 643617
• ClinVar RCV Id: RCV000797360 ; RCV001179798 ; RCV001007472 ; RCV004001610
• dbSNP Id: rs1195284382
• gnomAD v4: 1-156137741-C-G
• MyVariant Identifiers: chr1:g.156107532C>G (hg19) ; chr1:g.156137741C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156137741C>G , CM000663.2:g.156137741C>G	GRCh38
NC_000001.10:g.156107532C>G , CM000663.1:g.156107532C>G	GRCh37
NC_000001.9:g.154374156C>G	NCBI36
NG_008692.2:g.60169C>G , LRG_254:g.60169C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.1138C>G	ENSP00000426535.3:p.His380Asp
ENST00000498722.3:n.928C>G
ENST00000682650.1:c.1608+509C>G	ENSP00000506904.1:n.1608+509C>G
ENST00000683032.1:c.1696C>G	ENSP00000506771.1:p.His566Asp
ENST00000683773.1:n.41C>G
ENST00000684195.1:c.*44C>G	ENSP00000508220.1:n.*44C>G
ENST00000361308.9:c.1696C>G	ENSP00000355292.6:p.His566Asp
ENST00000368300.9:c.1696C>G MANE Select	ENSP00000357283.4:p.His566Asp
ENST00000496738.6:n.2155C>G
ENST00000674518.1:c.*1046C>G	ENSP00000502261.1:n.*1046C>G
ENST00000674600.1:c.*1495C>G	ENSP00000501666.1:n.*1495C>G
ENST00000674720.1:c.*258C>G	ENSP00000502798.1:n.*258C>G
ENST00000675431.1:n.1389C>G
ENST00000675455.1:c.*1496C>G	ENSP00000501795.1:n.*1496C>G
ENST00000675667.1:c.1696C>G	ENSP00000501803.1:p.His566Asp
ENST00000675874.1:c.*1167C>G	ENSP00000501851.1:n.*1167C>G
ENST00000675881.1:c.*707C>G	ENSP00000501670.1:n.*707C>G
ENST00000675939.1:c.1696C>G	ENSP00000502256.1:p.His566Asp
ENST00000675989.1:n.2555C>G
ENST00000676208.1:c.*799C>G	ENSP00000502468.1:n.*799C>G
ENST00000676283.1:n.2492C>G
ENST00000676385.2:c.1608+509C>G	ENSP00000502091.1:n.1608+509C>G
ENST00000676434.1:c.*707C>G	ENSP00000501648.1:n.*707C>G
ENST00000677389.1:c.1696C>G MANE Plus Clinical	ENSP00000503633.1:p.His566Asp
ENST00000347559.6:c.1608+509C>G	ENSP00000292304.3:n.1608+509C>G
ENST00000361308.8:c.1441C>G	ENSP00000355292.5:p.His481Asp
ENST00000368297.5:c.1453C>G	ENSP00000357280.1:p.His485Asp
ENST00000368299.7:c.1696C>G	ENSP00000357282.3:p.His566Asp
ENST00000368300.8:c.1696C>G	ENSP00000357283.4:p.His566Asp
ENST00000368301.6:c.1696C>G	ENSP00000357284.2:p.His566Asp
ENST00000448611.6:c.1360C>G	ENSP00000395597.2:p.His454Asp
ENST00000473598.6:c.1399C>G	ENSP00000421821.1:p.His467Asp
ENST00000496738.5:n.1165C>G
ENST00000498722.2:n.928C>G
ENST00000506981.1:n.280C>G
ENST00000508500.1:c.486+509C>G	ENSP00000424977.1:n.486+509C>G
NM_001257374.2:c.1360C>G	NP_001244303.1:p.His454Asp
NM_001282624.1:c.1453C>G	NP_001269553.1:p.His485Asp
NM_001282625.1:c.1696C>G	NP_001269554.1:p.His566Asp
NM_001282626.1:c.1696C>G	NP_001269555.1:p.His566Asp
NM_005572.3:c.1696C>G , LRG_254t1:c.1696C>G	NP_005563.1:p.His566Asp
NM_170707.3:c.1696C>G	NP_733821.1:p.His566Asp
NM_170708.3:c.1608+509C>G	NP_733822.1:n.1608+509C>G
XM_011509533.1:c.1360C>G	XP_011507835.1:p.His454Asp
XM_011509534.1:c.1072C>G	XP_011507836.1:p.His358Asp
XR_921781.1:n.1985C>G
XM_011509534.2:c.1072C>G	XP_011507836.1:p.His358Asp
XR_921781.2:n.1983C>G
NM_170707.4:c.1696C>G MANE Select	NP_733821.1:p.His566Asp
NM_001257374.3:c.1360C>G	NP_001244303.1:p.His454Asp
NM_001282626.2:c.1696C>G	NP_001269555.1:p.His566Asp
NM_001282624.2:c.1453C>G	NP_001269553.1:p.His485Asp
NM_001282625.2:c.1696C>G	NP_001269554.1:p.His566Asp
NM_005572.4:c.1696C>G MANE Plus Clinical	NP_005563.1:p.His566Asp
NM_170708.4:c.1608+509C>G	NP_733822.1:n.1608+509C>G