Canonical Allele Identifier: CA342819799

Gene: LMNA

Linked Data

• MyVariant Identifiers: chr1:g.156105702A>C (hg19) ; chr1:g.156135911A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156135911A>C , CM000663.2:g.156135911A>C	GRCh38
NC_000001.10:g.156105702A>C , CM000663.1:g.156105702A>C	GRCh37
NC_000001.9:g.154372326A>C	NCBI36
NG_008692.2:g.58339A>C , LRG_254:g.58339A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000504687.7:c.389A>C	ENSP00000426535.3:p.Lys130Thr
ENST00000498722.3:n.179A>C
ENST00000682650.1:c.947A>C	ENSP00000506904.1:p.Lys316Thr
ENST00000683032.1:c.947A>C	ENSP00000506771.1:p.Lys316Thr
ENST00000684195.1:c.947A>C	ENSP00000508220.1:p.Lys316Thr
ENST00000361308.9:c.947A>C	ENSP00000355292.6:p.Lys316Thr
ENST00000368300.9:c.947A>C MANE Select	ENSP00000357283.4:p.Lys316Thr
ENST00000496738.6:n.1322A>C
ENST00000674518.1:c.*297A>C	ENSP00000502261.1:n.*297A>C
ENST00000674600.1:c.*746A>C	ENSP00000501666.1:n.*746A>C
ENST00000674720.1:c.947A>C	ENSP00000502798.1:p.Lys316Thr
ENST00000675431.1:n.640A>C
ENST00000675455.1:c.*747A>C	ENSP00000501795.1:n.*747A>C
ENST00000675667.1:c.947A>C	ENSP00000501803.1:p.Lys316Thr
ENST00000675874.1:c.*418A>C	ENSP00000501851.1:n.*418A>C
ENST00000675881.1:c.987A>C	ENSP00000501670.1:p.Gln329His
ENST00000675939.1:c.947A>C	ENSP00000502256.1:p.Lys316Thr
ENST00000675989.1:n.1322A>C
ENST00000676208.1:c.987A>C	ENSP00000502468.1:p.Gln329His
ENST00000676283.1:n.1322A>C
ENST00000676385.2:c.947A>C	ENSP00000502091.1:p.Lys316Thr
ENST00000676434.1:c.987A>C	ENSP00000501648.1:p.Gln329His
ENST00000677389.1:c.947A>C MANE Plus Clinical	ENSP00000503633.1:p.Lys316Thr
ENST00000347559.6:c.947A>C	ENSP00000292304.3:p.Lys316Thr
ENST00000361308.8:c.947A>C	ENSP00000355292.5:p.Lys316Thr
ENST00000368297.5:c.704A>C	ENSP00000357280.1:p.Lys235Thr
ENST00000368298.2:n.211A>C
ENST00000368299.7:c.947A>C	ENSP00000357282.3:p.Lys316Thr
ENST00000368300.8:c.947A>C	ENSP00000357283.4:p.Lys316Thr
ENST00000368301.6:c.947A>C	ENSP00000357284.2:p.Lys316Thr
ENST00000448611.6:c.611A>C	ENSP00000395597.2:p.Lys204Thr
ENST00000473598.6:c.650A>C	ENSP00000421821.1:p.Lys217Thr
ENST00000496738.5:n.332A>C
ENST00000498722.2:n.179A>C
NM_001257374.2:c.611A>C	NP_001244303.1:p.Lys204Thr
NM_001282624.1:c.704A>C	NP_001269553.1:p.Lys235Thr
NM_001282625.1:c.947A>C	NP_001269554.1:p.Lys316Thr
NM_001282626.1:c.947A>C	NP_001269555.1:p.Lys316Thr
NM_005572.3:c.947A>C , LRG_254t1:c.947A>C	NP_005563.1:p.Lys316Thr
NM_170707.3:c.947A>C	NP_733821.1:p.Lys316Thr
NM_170708.3:c.947A>C	NP_733822.1:p.Lys316Thr
XM_011509533.1:c.611A>C	XP_011507835.1:p.Lys204Thr
XM_011509534.1:c.323A>C	XP_011507836.1:p.Lys108Thr
XR_921781.1:n.1236A>C
XM_011509534.2:c.323A>C	XP_011507836.1:p.Lys108Thr
XR_921781.2:n.1234A>C
NM_170707.4:c.947A>C MANE Select	NP_733821.1:p.Lys316Thr
NM_001257374.3:c.611A>C	NP_001244303.1:p.Lys204Thr
NM_001282626.2:c.947A>C	NP_001269555.1:p.Lys316Thr
NM_001282624.2:c.704A>C	NP_001269553.1:p.Lys235Thr
NM_001282625.2:c.947A>C	NP_001269554.1:p.Lys316Thr
NM_005572.4:c.947A>C MANE Plus Clinical	NP_005563.1:p.Lys316Thr
NM_170708.4:c.947A>C	NP_733822.1:p.Lys316Thr