Canonical Allele Identifier: CA342828106

Gene: LMNA

Linked Data

• MyVariant Identifiers: chr1:g.156108523T>C (hg19) ; chr1:g.156138732T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156138732T>C , CM000663.2:g.156138732T>C	GRCh38
NC_000001.10:g.156108523T>C , CM000663.1:g.156108523T>C	GRCh37
NC_000001.9:g.154375147T>C	NCBI36
NG_008692.2:g.61160T>C , LRG_254:g.61160T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000504687.7:c.1385T>C	ENSP00000426535.3:p.Leu462Pro
ENST00000682650.1:c.1853T>C	ENSP00000506904.1:p.Leu618Pro
ENST00000683032.1:c.1943T>C	ENSP00000506771.1:p.Leu648Pro
ENST00000683773.1:n.163+125T>C
ENST00000684195.1:c.*1035T>C	ENSP00000508220.1:n.*1035T>C
ENST00000361308.9:c.1943T>C	ENSP00000355292.6:p.Leu648Pro
ENST00000368300.9:c.1943T>C MANE Select	ENSP00000357283.4:p.Leu648Pro
ENST00000674518.1:c.*1293T>C	ENSP00000502261.1:n.*1293T>C
ENST00000674600.1:c.*1742T>C	ENSP00000501666.1:n.*1742T>C
ENST00000675455.1:c.*1743T>C	ENSP00000501795.1:n.*1743T>C
ENST00000675667.1:c.1943T>C	ENSP00000501803.1:p.Leu648Pro
ENST00000675874.1:c.*1414T>C	ENSP00000501851.1:n.*1414T>C
ENST00000675881.1:c.*954T>C	ENSP00000501670.1:n.*954T>C
ENST00000675939.1:c.1943T>C	ENSP00000502256.1:p.Leu648Pro
ENST00000675989.1:n.3546T>C
ENST00000676208.1:c.*1046T>C	ENSP00000502468.1:n.*1046T>C
ENST00000676385.2:c.1853T>C	ENSP00000502091.1:p.Leu618Pro
ENST00000676434.1:c.*1698T>C	ENSP00000501648.1:n.*1698T>C
ENST00000347559.6:c.1853T>C	ENSP00000292304.3:p.Leu618Pro
ENST00000368299.7:c.1818+125T>C	ENSP00000357282.3:n.1818+125T>C
ENST00000368300.8:c.1943T>C	ENSP00000357283.4:p.Leu648Pro
ENST00000448611.6:c.1607T>C	ENSP00000395597.2:p.Leu536Pro
ENST00000473598.6:c.1646T>C	ENSP00000421821.1:p.Leu549Pro
ENST00000496738.5:n.2156T>C
ENST00000506981.1:n.527T>C
ENST00000508500.1:c.731T>C	ENSP00000424977.1:p.Leu244Pro
NM_001257374.2:c.1607T>C	NP_001244303.1:p.Leu536Pro
NM_001282626.1:c.1818+125T>C	NP_001269555.1:n.1818+125T>C
NM_170707.3:c.1943T>C	NP_733821.1:p.Leu648Pro
NM_170708.3:c.1853T>C	NP_733822.1:p.Leu618Pro
XM_011509533.1:c.1607T>C	XP_011507835.1:p.Leu536Pro
XM_011509534.1:c.1319T>C	XP_011507836.1:p.Leu440Pro
XR_921781.1:n.2232T>C
XM_011509534.2:c.1319T>C	XP_011507836.1:p.Leu440Pro
XR_921781.2:n.2230T>C
NM_170707.4:c.1943T>C MANE Select	NP_733821.1:p.Leu648Pro
NM_001257374.3:c.1607T>C	NP_001244303.1:p.Leu536Pro
NM_001282626.2:c.1818+125T>C	NP_001269555.1:n.1818+125T>C
NM_170708.4:c.1853T>C	NP_733822.1:p.Leu618Pro