Canonical Allele Identifier: CA015174

Gene: LMNA

Linked Data

• ClinVar Variation Id: 66876
• ClinVar RCV Id: RCV000057373
• dbSNP Id: rs142000963
• MyVariant Identifiers: chr1:g.156108510C>A (hg19) ; chr1:g.156138719C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156138719C>A , CM000663.2:g.156138719C>A	GRCh38
NC_000001.10:g.156108510C>A , CM000663.1:g.156108510C>A	GRCh37
NC_000001.9:g.154375134C>A	NCBI36
NG_008692.2:g.61147C>A , LRG_254:g.61147C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000504687.7:c.1372C>A	ENSP00000426535.3:p.Arg458Ser
ENST00000682650.1:c.1840C>A	ENSP00000506904.1:p.Arg614Ser
ENST00000683032.1:c.1930C>A	ENSP00000506771.1:p.Arg644Ser
ENST00000683773.1:n.163+112C>A
ENST00000684195.1:c.*1022C>A	ENSP00000508220.1:n.*1022C>A
ENST00000361308.9:c.1930C>A	ENSP00000355292.6:p.Arg644Ser
ENST00000368300.9:c.1930C>A MANE Select	ENSP00000357283.4:p.Arg644Ser
ENST00000674518.1:c.*1280C>A	ENSP00000502261.1:n.*1280C>A
ENST00000674600.1:c.*1729C>A	ENSP00000501666.1:n.*1729C>A
ENST00000675455.1:c.*1730C>A	ENSP00000501795.1:n.*1730C>A
ENST00000675667.1:c.1930C>A	ENSP00000501803.1:p.Arg644Ser
ENST00000675874.1:c.*1401C>A	ENSP00000501851.1:n.*1401C>A
ENST00000675881.1:c.*941C>A	ENSP00000501670.1:n.*941C>A
ENST00000675939.1:c.1930C>A	ENSP00000502256.1:p.Arg644Ser
ENST00000675989.1:n.3533C>A
ENST00000676208.1:c.*1033C>A	ENSP00000502468.1:n.*1033C>A
ENST00000676385.2:c.1840C>A	ENSP00000502091.1:p.Arg614Ser
ENST00000676434.1:c.*1685C>A	ENSP00000501648.1:n.*1685C>A
ENST00000347559.6:c.1840C>A	ENSP00000292304.3:p.Arg614Ser
ENST00000368299.7:c.1818+112C>A	ENSP00000357282.3:n.1818+112C>A
ENST00000368300.8:c.1930C>A	ENSP00000357283.4:p.Arg644Ser
ENST00000448611.6:c.1594C>A	ENSP00000395597.2:p.Arg532Ser
ENST00000473598.6:c.1633C>A	ENSP00000421821.1:p.Arg545Ser
ENST00000496738.5:n.2143C>A
ENST00000506981.1:n.514C>A
ENST00000508500.1:c.718C>A	ENSP00000424977.1:p.Arg240Ser
NM_001257374.2:c.1594C>A	NP_001244303.1:p.Arg532Ser
NM_001282626.1:c.1818+112C>A	NP_001269555.1:n.1818+112C>A
NM_170707.3:c.1930C>A	NP_733821.1:p.Arg644Ser
NM_170708.3:c.1840C>A	NP_733822.1:p.Arg614Ser
XM_011509533.1:c.1594C>A	XP_011507835.1:p.Arg532Ser
XM_011509534.1:c.1306C>A	XP_011507836.1:p.Arg436Ser
XR_921781.1:n.2219C>A
XM_011509534.2:c.1306C>A	XP_011507836.1:p.Arg436Ser
XR_921781.2:n.2217C>A
NM_170707.4:c.1930C>A MANE Select	NP_733821.1:p.Arg644Ser
NM_001257374.3:c.1594C>A	NP_001244303.1:p.Arg532Ser
NM_001282626.2:c.1818+112C>A	NP_001269555.1:n.1818+112C>A
NM_170708.4:c.1840C>A	NP_733822.1:p.Arg614Ser