Canonical Allele Identifier: CA347053

Gene: LMNA

Linked Data

• ClinVar Variation Id: 162411
• ClinVar RCV Id: RCV000192014
• dbSNP Id: rs797044486
• MyVariant Identifiers: chr1:g.156108351T>A (hg19) ; chr1:g.156138560T>A (hg38)
• PubMed: PMID:20301300 ; PMID:24687084

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156138560T>A , CM000663.2:g.156138560T>A	GRCh38
NC_000001.10:g.156108351T>A , CM000663.1:g.156108351T>A	GRCh37
NC_000001.9:g.154374975T>A	NCBI36
NG_008692.2:g.60988T>A , LRG_254:g.60988T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.1213T>A	ENSP00000426535.3:p.Cys405Ser
ENST00000682650.1:c.1681T>A	ENSP00000506904.1:p.Cys561Ser
ENST00000683032.1:c.1771T>A	ENSP00000506771.1:p.Cys591Ser
ENST00000683773.1:n.116T>A
ENST00000684195.1:c.*863T>A	ENSP00000508220.1:n.*863T>A
ENST00000361308.9:c.1771T>A	ENSP00000355292.6:p.Cys591Ser
ENST00000368300.9:c.1771T>A MANE Select	ENSP00000357283.4:p.Cys591Ser
ENST00000496738.6:n.2974T>A
ENST00000674518.1:c.*1121T>A	ENSP00000502261.1:n.*1121T>A
ENST00000674600.1:c.*1570T>A	ENSP00000501666.1:n.*1570T>A
ENST00000674720.1:c.*1077T>A	ENSP00000502798.1:n.*1077T>A
ENST00000675455.1:c.*1571T>A	ENSP00000501795.1:n.*1571T>A
ENST00000675667.1:c.1771T>A	ENSP00000501803.1:p.Cys591Ser
ENST00000675874.1:c.*1242T>A	ENSP00000501851.1:n.*1242T>A
ENST00000675881.1:c.*782T>A	ENSP00000501670.1:n.*782T>A
ENST00000675939.1:c.1771T>A	ENSP00000502256.1:p.Cys591Ser
ENST00000675989.1:n.3374T>A
ENST00000676208.1:c.*874T>A	ENSP00000502468.1:n.*874T>A
ENST00000676283.1:n.3311T>A
ENST00000676385.2:c.1681T>A	ENSP00000502091.1:p.Cys561Ser
ENST00000676434.1:c.*1526T>A	ENSP00000501648.1:n.*1526T>A
ENST00000347559.6:c.1681T>A	ENSP00000292304.3:p.Cys561Ser
ENST00000368299.7:c.1771T>A	ENSP00000357282.3:p.Cys591Ser
ENST00000368300.8:c.1771T>A	ENSP00000357283.4:p.Cys591Ser
ENST00000448611.6:c.1435T>A	ENSP00000395597.2:p.Cys479Ser
ENST00000473598.6:c.1474T>A	ENSP00000421821.1:p.Cys492Ser
ENST00000496738.5:n.1984T>A
ENST00000506981.1:n.355T>A
ENST00000508500.1:c.559T>A	ENSP00000424977.1:p.Cys187Ser
NM_001257374.2:c.1435T>A	NP_001244303.1:p.Cys479Ser
NM_001282626.1:c.1771T>A	NP_001269555.1:p.Cys591Ser
NM_170707.3:c.1771T>A	NP_733821.1:p.Cys591Ser
NM_170708.3:c.1681T>A	NP_733822.1:p.Cys561Ser
XM_011509533.1:c.1435T>A	XP_011507835.1:p.Cys479Ser
XM_011509534.1:c.1147T>A	XP_011507836.1:p.Cys383Ser
XR_921781.1:n.2060T>A
XM_011509534.2:c.1147T>A	XP_011507836.1:p.Cys383Ser
XR_921781.2:n.2058T>A
NM_170707.4:c.1771T>A MANE Select	NP_733821.1:p.Cys591Ser
NM_001257374.3:c.1435T>A	NP_001244303.1:p.Cys479Ser
NM_001282626.2:c.1771T>A	NP_001269555.1:p.Cys591Ser
NM_170708.4:c.1681T>A	NP_733822.1:p.Cys561Ser