Canonical Allele Identifier: CA342826855

Gene: LMNA

Linked Data

• MyVariant Identifiers: chr1:g.156108370A>C (hg19) ; chr1:g.156138579A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156138579A>C , CM000663.2:g.156138579A>C	GRCh38
NC_000001.10:g.156108370A>C , CM000663.1:g.156108370A>C	GRCh37
NC_000001.9:g.154374994A>C	NCBI36
NG_008692.2:g.61007A>C , LRG_254:g.61007A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.1232A>C	ENSP00000426535.3:p.Lys411Thr
ENST00000682650.1:c.1700A>C	ENSP00000506904.1:p.Lys567Thr
ENST00000683032.1:c.1790A>C	ENSP00000506771.1:p.Lys597Thr
ENST00000683773.1:n.135A>C
ENST00000684195.1:c.*882A>C	ENSP00000508220.1:n.*882A>C
ENST00000361308.9:c.1790A>C	ENSP00000355292.6:p.Lys597Thr
ENST00000368300.9:c.1790A>C MANE Select	ENSP00000357283.4:p.Lys597Thr
ENST00000674518.1:c.*1140A>C	ENSP00000502261.1:n.*1140A>C
ENST00000674600.1:c.*1589A>C	ENSP00000501666.1:n.*1589A>C
ENST00000675455.1:c.*1590A>C	ENSP00000501795.1:n.*1590A>C
ENST00000675667.1:c.1790A>C	ENSP00000501803.1:p.Lys597Thr
ENST00000675874.1:c.*1261A>C	ENSP00000501851.1:n.*1261A>C
ENST00000675881.1:c.*801A>C	ENSP00000501670.1:n.*801A>C
ENST00000675939.1:c.1790A>C	ENSP00000502256.1:p.Lys597Thr
ENST00000675989.1:n.3393A>C
ENST00000676208.1:c.*893A>C	ENSP00000502468.1:n.*893A>C
ENST00000676283.1:n.3330A>C
ENST00000676385.2:c.1700A>C	ENSP00000502091.1:p.Lys567Thr
ENST00000676434.1:c.*1545A>C	ENSP00000501648.1:n.*1545A>C
ENST00000347559.6:c.1700A>C	ENSP00000292304.3:p.Lys567Thr
ENST00000368299.7:c.1790A>C	ENSP00000357282.3:p.Lys597Thr
ENST00000368300.8:c.1790A>C	ENSP00000357283.4:p.Lys597Thr
ENST00000448611.6:c.1454A>C	ENSP00000395597.2:p.Lys485Thr
ENST00000473598.6:c.1493A>C	ENSP00000421821.1:p.Lys498Thr
ENST00000496738.5:n.2003A>C
ENST00000506981.1:n.374A>C
ENST00000508500.1:c.578A>C	ENSP00000424977.1:p.Lys193Thr
NM_001257374.2:c.1454A>C	NP_001244303.1:p.Lys485Thr
NM_001282626.1:c.1790A>C	NP_001269555.1:p.Lys597Thr
NM_170707.3:c.1790A>C	NP_733821.1:p.Lys597Thr
NM_170708.3:c.1700A>C	NP_733822.1:p.Lys567Thr
XM_011509533.1:c.1454A>C	XP_011507835.1:p.Lys485Thr
XM_011509534.1:c.1166A>C	XP_011507836.1:p.Lys389Thr
XR_921781.1:n.2079A>C
XM_011509534.2:c.1166A>C	XP_011507836.1:p.Lys389Thr
XR_921781.2:n.2077A>C
NM_170707.4:c.1790A>C MANE Select	NP_733821.1:p.Lys597Thr
NM_001257374.3:c.1454A>C	NP_001244303.1:p.Lys485Thr
NM_001282626.2:c.1790A>C	NP_001269555.1:p.Lys597Thr
NM_170708.4:c.1700A>C	NP_733822.1:p.Lys567Thr