Canonical Allele Identifier: CA421257881

Gene: LMNA

Linked Data

• dbSNP Id: rs1417597231
• gnomAD v2: 1-156108296-C-T
• MyVariant Identifiers: chr1:g.156108296C>T (hg19) ; chr1:g.156138505C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156138505C>T , CM000663.2:g.156138505C>T	GRCh38
NC_000001.10:g.156108296C>T , CM000663.1:g.156108296C>T	GRCh37
NC_000001.9:g.154374920C>T	NCBI36
NG_008692.2:g.60933C>T , LRG_254:g.60933C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.1158C>T	ENSP00000426535.3:p.Ser386=
ENST00000682650.1:c.1626C>T	ENSP00000506904.1:p.Ser542=
ENST00000683032.1:c.1716C>T	ENSP00000506771.1:p.Ser572=
ENST00000683773.1:n.61C>T
ENST00000684195.1:c.*808C>T	ENSP00000508220.1:n.*808C>T
ENST00000361308.9:c.1716C>T	ENSP00000355292.6:p.Ser572=
ENST00000368300.9:c.1716C>T MANE Select	ENSP00000357283.4:p.Ser572=
ENST00000496738.6:n.2919C>T
ENST00000674518.1:c.*1066C>T	ENSP00000502261.1:n.*1066C>T
ENST00000674600.1:c.*1515C>T	ENSP00000501666.1:n.*1515C>T
ENST00000674720.1:c.*1022C>T	ENSP00000502798.1:n.*1022C>T
ENST00000675455.1:c.*1516C>T	ENSP00000501795.1:n.*1516C>T
ENST00000675667.1:c.1716C>T	ENSP00000501803.1:p.Ser572=
ENST00000675874.1:c.*1187C>T	ENSP00000501851.1:n.*1187C>T
ENST00000675881.1:c.*727C>T	ENSP00000501670.1:n.*727C>T
ENST00000675939.1:c.1716C>T	ENSP00000502256.1:p.Ser572=
ENST00000675989.1:n.3319C>T
ENST00000676208.1:c.*819C>T	ENSP00000502468.1:n.*819C>T
ENST00000676283.1:n.3256C>T
ENST00000676385.2:c.1626C>T	ENSP00000502091.1:p.Ser542=
ENST00000676434.1:c.*1471C>T	ENSP00000501648.1:n.*1471C>T
ENST00000347559.6:c.1626C>T	ENSP00000292304.3:p.Ser542=
ENST00000368299.7:c.1716C>T	ENSP00000357282.3:p.Ser572=
ENST00000368300.8:c.1716C>T	ENSP00000357283.4:p.Ser572=
ENST00000448611.6:c.1380C>T	ENSP00000395597.2:p.Ser460=
ENST00000473598.6:c.1419C>T	ENSP00000421821.1:p.Ser473=
ENST00000496738.5:n.1929C>T
ENST00000506981.1:n.300C>T
ENST00000508500.1:c.504C>T	ENSP00000424977.1:p.Ser168=
NM_001257374.2:c.1380C>T	NP_001244303.1:p.Ser460=
NM_001282626.1:c.1716C>T	NP_001269555.1:p.Ser572=
NM_170707.3:c.1716C>T	NP_733821.1:p.Ser572=
NM_170708.3:c.1626C>T	NP_733822.1:p.Ser542=
XM_011509533.1:c.1380C>T	XP_011507835.1:p.Ser460=
XM_011509534.1:c.1092C>T	XP_011507836.1:p.Ser364=
XR_921781.1:n.2005C>T
XM_011509534.2:c.1092C>T	XP_011507836.1:p.Ser364=
XR_921781.2:n.2003C>T
NM_170707.4:c.1716C>T MANE Select	NP_733821.1:p.Ser572=
NM_001257374.3:c.1380C>T	NP_001244303.1:p.Ser460=
NM_001282626.2:c.1716C>T	NP_001269555.1:p.Ser572=
NM_170708.4:c.1626C>T	NP_733822.1:p.Ser542=