Canonical Allele Identifier: CA526468609

Gene: LMNA

Linked Data

• dbSNP Id: rs1227742421
• gnomAD v2: 1-156108111-C-T
• gnomAD v3: 1-156138320-C-T
• gnomAD v4: 1-156138320-C-T
• MyVariant Identifiers: chr1:g.156108111C>T (hg19) ; chr1:g.156138320C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156138320C>T , CM000663.2:g.156138320C>T	GRCh38
NC_000001.10:g.156108111C>T , CM000663.1:g.156108111C>T	GRCh37
NC_000001.9:g.154374735C>T	NCBI36
NG_008692.2:g.60748C>T , LRG_254:g.60748C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.1141-168C>T	ENSP00000426535.3:n.1141-168C>T
ENST00000682650.1:c.1609-168C>T	ENSP00000506904.1:n.1609-168C>T
ENST00000683032.1:c.1699-168C>T	ENSP00000506771.1:n.1699-168C>T
ENST00000683773.1:n.44-168C>T
ENST00000684195.1:c.*623C>T	ENSP00000508220.1:n.*623C>T
ENST00000361308.9:c.1699-168C>T	ENSP00000355292.6:n.1699-168C>T
ENST00000368300.9:c.1699-168C>T MANE Select	ENSP00000357283.4:n.1699-168C>T
ENST00000496738.6:n.2734C>T
ENST00000674518.1:c.*1049-168C>T	ENSP00000502261.1:n.*1049-168C>T
ENST00000674600.1:c.*1498-168C>T	ENSP00000501666.1:n.*1498-168C>T
ENST00000674720.1:c.*837C>T	ENSP00000502798.1:n.*837C>T
ENST00000675455.1:c.*1499-168C>T	ENSP00000501795.1:n.*1499-168C>T
ENST00000675667.1:c.1699-168C>T	ENSP00000501803.1:n.1699-168C>T
ENST00000675874.1:c.*1170-168C>T	ENSP00000501851.1:n.*1170-168C>T
ENST00000675881.1:c.*710-168C>T	ENSP00000501670.1:n.*710-168C>T
ENST00000675939.1:c.1699-168C>T	ENSP00000502256.1:n.1699-168C>T
ENST00000675989.1:n.3134C>T
ENST00000676208.1:c.*802-168C>T	ENSP00000502468.1:n.*802-168C>T
ENST00000676283.1:n.3071C>T
ENST00000676385.2:c.1609-168C>T	ENSP00000502091.1:n.1609-168C>T
ENST00000676434.1:c.*1286C>T	ENSP00000501648.1:n.*1286C>T
ENST00000347559.6:c.1609-168C>T	ENSP00000292304.3:n.1609-168C>T
ENST00000368299.7:c.1699-168C>T	ENSP00000357282.3:n.1699-168C>T
ENST00000368300.8:c.1699-168C>T	ENSP00000357283.4:n.1699-168C>T
ENST00000448611.6:c.1363-168C>T	ENSP00000395597.2:n.1363-168C>T
ENST00000473598.6:c.1402-168C>T	ENSP00000421821.1:n.1402-168C>T
ENST00000496738.5:n.1744C>T
ENST00000506981.1:n.283-168C>T
ENST00000508500.1:c.487-168C>T	ENSP00000424977.1:n.487-168C>T
NM_001257374.2:c.1363-168C>T	NP_001244303.1:n.1363-168C>T
NM_001282626.1:c.1699-168C>T	NP_001269555.1:n.1699-168C>T
NM_170707.3:c.1699-168C>T	NP_733821.1:n.1699-168C>T
NM_170708.3:c.1609-168C>T	NP_733822.1:n.1609-168C>T
XM_011509533.1:c.1363-168C>T	XP_011507835.1:n.1363-168C>T
XM_011509534.1:c.1075-168C>T	XP_011507836.1:n.1075-168C>T
XR_921781.1:n.1988-168C>T
XM_011509534.2:c.1075-168C>T	XP_011507836.1:n.1075-168C>T
XR_921781.2:n.1986-168C>T
NM_170707.4:c.1699-168C>T MANE Select	NP_733821.1:n.1699-168C>T
NM_001257374.3:c.1363-168C>T	NP_001244303.1:n.1363-168C>T
NM_001282626.2:c.1699-168C>T	NP_001269555.1:n.1699-168C>T
NM_170708.4:c.1609-168C>T	NP_733822.1:n.1609-168C>T