Canonical Allele Identifier: CA342822673

Gene: LMNA

Linked Data

• MyVariant Identifiers: chr1:g.156106778T>C (hg19) ; chr1:g.156136987T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156136987T>C , CM000663.2:g.156136987T>C	GRCh38
NC_000001.10:g.156106778T>C , CM000663.1:g.156106778T>C	GRCh37
NC_000001.9:g.154373402T>C	NCBI36
NG_008692.2:g.59415T>C , LRG_254:g.59415T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.889T>C	ENSP00000426535.3:p.Phe297Leu
ENST00000459904.2:n.695T>C
ENST00000498722.3:n.679T>C
ENST00000682650.1:c.1447T>C	ENSP00000506904.1:p.Phe483Leu
ENST00000683032.1:c.1447T>C	ENSP00000506771.1:p.Phe483Leu
ENST00000684195.1:c.1447T>C	ENSP00000508220.1:p.Phe483Leu
ENST00000361308.9:c.1447T>C	ENSP00000355292.6:p.Phe483Leu
ENST00000368300.9:c.1447T>C MANE Select	ENSP00000357283.4:p.Phe483Leu
ENST00000496738.6:n.1822T>C
ENST00000674518.1:c.*797T>C	ENSP00000502261.1:n.*797T>C
ENST00000674600.1:c.*1246T>C	ENSP00000501666.1:n.*1246T>C
ENST00000674720.1:c.*9T>C	ENSP00000502798.1:n.*9T>C
ENST00000675431.1:n.1140T>C
ENST00000675455.1:c.*1247T>C	ENSP00000501795.1:n.*1247T>C
ENST00000675667.1:c.1447T>C	ENSP00000501803.1:p.Phe483Leu
ENST00000675874.1:c.*918T>C	ENSP00000501851.1:n.*918T>C
ENST00000675881.1:c.*458T>C	ENSP00000501670.1:n.*458T>C
ENST00000675939.1:c.1447T>C	ENSP00000502256.1:p.Phe483Leu
ENST00000675989.1:n.2306T>C
ENST00000676208.1:c.*550T>C	ENSP00000502468.1:n.*550T>C
ENST00000676283.1:n.1822T>C
ENST00000676385.2:c.1447T>C	ENSP00000502091.1:p.Phe483Leu
ENST00000676434.1:c.*458T>C	ENSP00000501648.1:n.*458T>C
ENST00000677389.1:c.1447T>C MANE Plus Clinical	ENSP00000503633.1:p.Phe483Leu
ENST00000347559.6:c.1447T>C	ENSP00000292304.3:p.Phe483Leu
ENST00000361308.8:c.1312-204T>C	ENSP00000355292.5:n.1312-204T>C
ENST00000368297.5:c.1204T>C	ENSP00000357280.1:p.Phe402Leu
ENST00000368298.2:n.1195T>C
ENST00000368299.7:c.1447T>C	ENSP00000357282.3:p.Phe483Leu
ENST00000368300.8:c.1447T>C	ENSP00000357283.4:p.Phe483Leu
ENST00000368301.6:c.1447T>C	ENSP00000357284.2:p.Phe483Leu
ENST00000448611.6:c.1111T>C	ENSP00000395597.2:p.Phe371Leu
ENST00000459904.1:n.695T>C
ENST00000473598.6:c.1150T>C	ENSP00000421821.1:p.Phe384Leu
ENST00000496738.5:n.832T>C
ENST00000498722.2:n.679T>C
ENST00000508500.1:c.325T>C	ENSP00000424977.1:p.Phe109Leu
NM_001257374.2:c.1111T>C	NP_001244303.1:p.Phe371Leu
NM_001282624.1:c.1204T>C	NP_001269553.1:p.Phe402Leu
NM_001282625.1:c.1447T>C	NP_001269554.1:p.Phe483Leu
NM_001282626.1:c.1447T>C	NP_001269555.1:p.Phe483Leu
NM_005572.3:c.1447T>C , LRG_254t1:c.1447T>C	NP_005563.1:p.Phe483Leu
NM_170707.3:c.1447T>C	NP_733821.1:p.Phe483Leu
NM_170708.3:c.1447T>C	NP_733822.1:p.Phe483Leu
XM_011509533.1:c.1111T>C	XP_011507835.1:p.Phe371Leu
XM_011509534.1:c.823T>C	XP_011507836.1:p.Phe275Leu
XR_921781.1:n.1736T>C
XM_011509534.2:c.823T>C	XP_011507836.1:p.Phe275Leu
XR_921781.2:n.1734T>C
NM_170707.4:c.1447T>C MANE Select	NP_733821.1:p.Phe483Leu
NM_001257374.3:c.1111T>C	NP_001244303.1:p.Phe371Leu
NM_001282626.2:c.1447T>C	NP_001269555.1:p.Phe483Leu
NM_001282624.2:c.1204T>C	NP_001269553.1:p.Phe402Leu
NM_001282625.2:c.1447T>C	NP_001269554.1:p.Phe483Leu
NM_005572.4:c.1447T>C MANE Plus Clinical	NP_005563.1:p.Phe483Leu
NM_170708.4:c.1447T>C	NP_733822.1:p.Phe483Leu