Canonical Allele Identifier: CA2648350947

Gene: LMNA

Linked Data

• gnomAD v4: 1-156137465-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156137465G>T , CM000663.2:g.156137465G>T	GRCh38
NC_000001.10:g.156107256G>T , CM000663.1:g.156107256G>T	GRCh37
NC_000001.9:g.154373880G>T	NCBI36
NG_008692.2:g.59893G>T , LRG_254:g.59893G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000504687.7:c.1051-189G>T	ENSP00000426535.3:n.1051-189G>T
ENST00000498722.3:n.841-189G>T
ENST00000682650.1:c.1608+233G>T	ENSP00000506904.1:n.1608+233G>T
ENST00000683032.1:c.1609-189G>T	ENSP00000506771.1:n.1609-189G>T
ENST00000684195.1:c.1580-189G>T	ENSP00000508220.1:n.1580-189G>T
ENST00000361308.9:c.1609-189G>T	ENSP00000355292.6:n.1609-189G>T
ENST00000368300.9:c.1609-189G>T MANE Select	ENSP00000357283.4:n.1609-189G>T
ENST00000496738.6:n.2068-189G>T
ENST00000674518.1:c.*959-189G>T	ENSP00000502261.1:n.*959-189G>T
ENST00000674600.1:c.*1408-189G>T	ENSP00000501666.1:n.*1408-189G>T
ENST00000674720.1:c.*171-189G>T	ENSP00000502798.1:n.*171-189G>T
ENST00000675431.1:n.1302-189G>T
ENST00000675455.1:c.*1409-189G>T	ENSP00000501795.1:n.*1409-189G>T
ENST00000675667.1:c.1609-189G>T	ENSP00000501803.1:n.1609-189G>T
ENST00000675874.1:c.*1080-189G>T	ENSP00000501851.1:n.*1080-189G>T
ENST00000675881.1:c.*620-189G>T	ENSP00000501670.1:n.*620-189G>T
ENST00000675939.1:c.1609-189G>T	ENSP00000502256.1:n.1609-189G>T
ENST00000675989.1:n.2468-189G>T
ENST00000676208.1:c.*712-189G>T	ENSP00000502468.1:n.*712-189G>T
ENST00000676283.1:n.2216G>T
ENST00000676385.2:c.1608+233G>T	ENSP00000502091.1:n.1608+233G>T
ENST00000676434.1:c.*620-189G>T	ENSP00000501648.1:n.*620-189G>T
ENST00000677389.1:c.1609-189G>T MANE Plus Clinical	ENSP00000503633.1:n.1609-189G>T
ENST00000347559.6:c.1608+233G>T	ENSP00000292304.3:n.1608+233G>T
ENST00000361308.8:c.1354-189G>T	ENSP00000355292.5:n.1354-189G>T
ENST00000368297.5:c.1366-189G>T	ENSP00000357280.1:n.1366-189G>T
ENST00000368299.7:c.1609-189G>T	ENSP00000357282.3:n.1609-189G>T
ENST00000368300.8:c.1609-189G>T	ENSP00000357283.4:n.1609-189G>T
ENST00000368301.6:c.1609-189G>T	ENSP00000357284.2:n.1609-189G>T
ENST00000448611.6:c.1273-189G>T	ENSP00000395597.2:n.1273-189G>T
ENST00000473598.6:c.1312-189G>T	ENSP00000421821.1:n.1312-189G>T
ENST00000496738.5:n.1078-189G>T
ENST00000498722.2:n.841-189G>T
ENST00000506981.1:n.4G>T
ENST00000508500.1:c.486+233G>T	ENSP00000424977.1:n.486+233G>T
NM_001257374.2:c.1273-189G>T	NP_001244303.1:n.1273-189G>T
NM_001282624.1:c.1366-189G>T	NP_001269553.1:n.1366-189G>T
NM_001282625.1:c.1609-189G>T	NP_001269554.1:n.1609-189G>T
NM_001282626.1:c.1609-189G>T	NP_001269555.1:n.1609-189G>T
NM_005572.3:c.1609-189G>T , LRG_254t1:c.1609-189G>T	NP_005563.1:n.1609-189G>T
NM_170707.3:c.1609-189G>T	NP_733821.1:n.1609-189G>T
NM_170708.3:c.1608+233G>T	NP_733822.1:n.1608+233G>T
XM_011509533.1:c.1273-189G>T	XP_011507835.1:n.1273-189G>T
XM_011509534.1:c.985-189G>T	XP_011507836.1:n.985-189G>T
XR_921781.1:n.1898-189G>T
XM_011509534.2:c.985-189G>T	XP_011507836.1:n.985-189G>T
XR_921781.2:n.1896-189G>T
NM_170707.4:c.1609-189G>T MANE Select	NP_733821.1:n.1609-189G>T
NM_001257374.3:c.1273-189G>T	NP_001244303.1:n.1273-189G>T
NM_001282626.2:c.1609-189G>T	NP_001269555.1:n.1609-189G>T
NM_001282624.2:c.1366-189G>T	NP_001269553.1:n.1366-189G>T
NM_001282625.2:c.1609-189G>T	NP_001269554.1:n.1609-189G>T
NM_005572.4:c.1609-189G>T MANE Plus Clinical	NP_005563.1:n.1609-189G>T
NM_170708.4:c.1608+233G>T	NP_733822.1:n.1608+233G>T