Canonical Allele Identifier: CA342826571

Gene: LMNA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156138539C>A , CM000663.2:g.156138539C>A	GRCh38
NC_000001.10:g.156108330C>A , CM000663.1:g.156108330C>A	GRCh37
NC_000001.9:g.154374954C>A	NCBI36
NG_008692.2:g.60967C>A , LRG_254:g.60967C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_170707.4:c.1750C>A MANE Select	NP_733821.1:p.Arg584Ser
ENST00000368300.9:c.1750C>A MANE Select	ENSP00000357283.4:p.Arg584Ser
NM_001257374.2:c.1414C>A	NP_001244303.1:p.Arg472Ser
NM_001257374.3:c.1414C>A	NP_001244303.1:p.Arg472Ser
NM_001282626.1:c.1750C>A	NP_001269555.1:p.Arg584Ser
NM_001282626.2:c.1750C>A	NP_001269555.1:p.Arg584Ser
NM_170707.3:c.1750C>A	NP_733821.1:p.Arg584Ser
NM_170708.3:c.1660C>A	NP_733822.1:p.Arg554Ser
NM_170708.4:c.1660C>A	NP_733822.1:p.Arg554Ser
ENST00000347559.6:c.1660C>A	ENSP00000292304.3:p.Arg554Ser
ENST00000361308.9:c.1750C>A	ENSP00000355292.6:p.Arg584Ser
ENST00000368299.7:c.1750C>A	ENSP00000357282.3:p.Arg584Ser
ENST00000368300.8:c.1750C>A	ENSP00000357283.4:p.Arg584Ser
ENST00000448611.6:c.1414C>A	ENSP00000395597.2:p.Arg472Ser
ENST00000473598.6:c.1453C>A	ENSP00000421821.1:p.Arg485Ser
ENST00000496738.5:n.1963C>A
ENST00000496738.6:n.2953C>A
ENST00000504687.7:c.1192C>A	ENSP00000426535.3:p.Arg398Ser
ENST00000506981.1:n.334C>A
ENST00000508500.1:c.538C>A	ENSP00000424977.1:p.Arg180Ser
ENST00000674518.1:c.*1100C>A	ENSP00000502261.1:n.*1100C>A
ENST00000674600.1:c.*1549C>A	ENSP00000501666.1:n.*1549C>A
ENST00000674720.1:c.*1056C>A	ENSP00000502798.1:n.*1056C>A
ENST00000675455.1:c.*1550C>A	ENSP00000501795.1:n.*1550C>A
ENST00000675667.1:c.1750C>A	ENSP00000501803.1:p.Arg584Ser
ENST00000675874.1:c.*1221C>A	ENSP00000501851.1:n.*1221C>A
ENST00000675881.1:c.*761C>A	ENSP00000501670.1:n.*761C>A
ENST00000675939.1:c.1750C>A	ENSP00000502256.1:p.Arg584Ser
ENST00000675989.1:n.3353C>A
ENST00000676208.1:c.*853C>A	ENSP00000502468.1:n.*853C>A
ENST00000676283.1:n.3290C>A
ENST00000676385.2:c.1660C>A	ENSP00000502091.1:p.Arg554Ser
ENST00000676434.1:c.*1505C>A	ENSP00000501648.1:n.*1505C>A
ENST00000682650.1:c.1660C>A	ENSP00000506904.1:p.Arg554Ser
ENST00000683032.1:c.1750C>A	ENSP00000506771.1:p.Arg584Ser
ENST00000683773.1:n.95C>A
ENST00000684195.1:c.*842C>A	ENSP00000508220.1:n.*842C>A
XM_011509533.1:c.1414C>A	XP_011507835.1:p.Arg472Ser
XM_011509534.1:c.1126C>A	XP_011507836.1:p.Arg376Ser
XM_011509534.2:c.1126C>A	XP_011507836.1:p.Arg376Ser
XR_921781.1:n.2039C>A
XR_921781.2:n.2037C>A