Canonical Allele Identifier: CA342826307

Gene: LMNA

Linked Data

• ClinVar Variation Id: 1329343
• ClinVar RCV Id: RCV001799386 ; RCV003227992
• dbSNP Id: rs1250355311
• gnomAD v4: 1-156138501-G-A
• MyVariant Identifiers: chr1:g.156108292G>A (hg19) ; chr1:g.156138501G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156138501G>A , CM000663.2:g.156138501G>A	GRCh38
NC_000001.10:g.156108292G>A , CM000663.1:g.156108292G>A	GRCh37
NC_000001.9:g.154374916G>A	NCBI36
NG_008692.2:g.60929G>A , LRG_254:g.60929G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.1154G>A	ENSP00000426535.3:p.Ser385Asn
ENST00000682650.1:c.1622G>A	ENSP00000506904.1:p.Ser541Asn
ENST00000683032.1:c.1712G>A	ENSP00000506771.1:p.Ser571Asn
ENST00000683773.1:n.57G>A
ENST00000684195.1:c.*804G>A	ENSP00000508220.1:n.*804G>A
ENST00000361308.9:c.1712G>A	ENSP00000355292.6:p.Ser571Asn
ENST00000368300.9:c.1712G>A MANE Select	ENSP00000357283.4:p.Ser571Asn
ENST00000496738.6:n.2915G>A
ENST00000674518.1:c.*1062G>A	ENSP00000502261.1:n.*1062G>A
ENST00000674600.1:c.*1511G>A	ENSP00000501666.1:n.*1511G>A
ENST00000674720.1:c.*1018G>A	ENSP00000502798.1:n.*1018G>A
ENST00000675455.1:c.*1512G>A	ENSP00000501795.1:n.*1512G>A
ENST00000675667.1:c.1712G>A	ENSP00000501803.1:p.Ser571Asn
ENST00000675874.1:c.*1183G>A	ENSP00000501851.1:n.*1183G>A
ENST00000675881.1:c.*723G>A	ENSP00000501670.1:n.*723G>A
ENST00000675939.1:c.1712G>A	ENSP00000502256.1:p.Ser571Asn
ENST00000675989.1:n.3315G>A
ENST00000676208.1:c.*815G>A	ENSP00000502468.1:n.*815G>A
ENST00000676283.1:n.3252G>A
ENST00000676385.2:c.1622G>A	ENSP00000502091.1:p.Ser541Asn
ENST00000676434.1:c.*1467G>A	ENSP00000501648.1:n.*1467G>A
ENST00000347559.6:c.1622G>A	ENSP00000292304.3:p.Ser541Asn
ENST00000368299.7:c.1712G>A	ENSP00000357282.3:p.Ser571Asn
ENST00000368300.8:c.1712G>A	ENSP00000357283.4:p.Ser571Asn
ENST00000448611.6:c.1376G>A	ENSP00000395597.2:p.Ser459Asn
ENST00000473598.6:c.1415G>A	ENSP00000421821.1:p.Ser472Asn
ENST00000496738.5:n.1925G>A
ENST00000506981.1:n.296G>A
ENST00000508500.1:c.500G>A	ENSP00000424977.1:p.Ser167Asn
NM_001257374.2:c.1376G>A	NP_001244303.1:p.Ser459Asn
NM_001282626.1:c.1712G>A	NP_001269555.1:p.Ser571Asn
NM_170707.3:c.1712G>A	NP_733821.1:p.Ser571Asn
NM_170708.3:c.1622G>A	NP_733822.1:p.Ser541Asn
XM_011509533.1:c.1376G>A	XP_011507835.1:p.Ser459Asn
XM_011509534.1:c.1088G>A	XP_011507836.1:p.Ser363Asn
XR_921781.1:n.2001G>A
XM_011509534.2:c.1088G>A	XP_011507836.1:p.Ser363Asn
XR_921781.2:n.1999G>A
NM_170707.4:c.1712G>A MANE Select	NP_733821.1:p.Ser571Asn
NM_001257374.3:c.1376G>A	NP_001244303.1:p.Ser459Asn
NM_001282626.2:c.1712G>A	NP_001269555.1:p.Ser571Asn
NM_170708.4:c.1622G>A	NP_733822.1:p.Ser541Asn