Canonical Allele Identifier: CA020337

Gene: LMNA

Linked Data

• ClinVar Variation Id: 36477
• ClinVar RCV Id: RCV000030149 ; RCV000041331 ; RCV000249377 ; RCV000710161 ; RCV001085192 ; RCV001172632 ; RCV003996128
• dbSNP Id: rs80356813
• ExAC: 1:156108341 G / A
• gnomAD v2: 1-156108341-G-A
• gnomAD v3: 1-156138550-G-A
• gnomAD v4: 1-156138550-G-A
• MyVariant Identifiers: chr1:g.156108341G>A (hg19) ; chr1:g.156138550G>A (hg38)
• PubMed: PMID:19318026 ; PMID:19680556 ; PMID:22570643 ; PMID:23891399 ; PMID:24503780

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156138550G>A , CM000663.2:g.156138550G>A	GRCh38
NC_000001.10:g.156108341G>A , CM000663.1:g.156108341G>A	GRCh37
NC_000001.9:g.154374965G>A	NCBI36
NG_008692.2:g.60978G>A , LRG_254:g.60978G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.1203G>A	ENSP00000426535.3:p.Leu401=
ENST00000682650.1:c.1671G>A	ENSP00000506904.1:p.Leu557=
ENST00000683032.1:c.1761G>A	ENSP00000506771.1:p.Leu587=
ENST00000683773.1:n.106G>A
ENST00000684195.1:c.*853G>A	ENSP00000508220.1:n.*853G>A
ENST00000361308.9:c.1761G>A	ENSP00000355292.6:p.Leu587=
ENST00000368300.9:c.1761G>A MANE Select	ENSP00000357283.4:p.Leu587=
ENST00000496738.6:n.2964G>A
ENST00000674518.1:c.*1111G>A	ENSP00000502261.1:n.*1111G>A
ENST00000674600.1:c.*1560G>A	ENSP00000501666.1:n.*1560G>A
ENST00000674720.1:c.*1067G>A	ENSP00000502798.1:n.*1067G>A
ENST00000675455.1:c.*1561G>A	ENSP00000501795.1:n.*1561G>A
ENST00000675667.1:c.1761G>A	ENSP00000501803.1:p.Leu587=
ENST00000675874.1:c.*1232G>A	ENSP00000501851.1:n.*1232G>A
ENST00000675881.1:c.*772G>A	ENSP00000501670.1:n.*772G>A
ENST00000675939.1:c.1761G>A	ENSP00000502256.1:p.Leu587=
ENST00000675989.1:n.3364G>A
ENST00000676208.1:c.*864G>A	ENSP00000502468.1:n.*864G>A
ENST00000676283.1:n.3301G>A
ENST00000676385.2:c.1671G>A	ENSP00000502091.1:p.Leu557=
ENST00000676434.1:c.*1516G>A	ENSP00000501648.1:n.*1516G>A
ENST00000347559.6:c.1671G>A	ENSP00000292304.3:p.Leu557=
ENST00000368299.7:c.1761G>A	ENSP00000357282.3:p.Leu587=
ENST00000368300.8:c.1761G>A	ENSP00000357283.4:p.Leu587=
ENST00000448611.6:c.1425G>A	ENSP00000395597.2:p.Leu475=
ENST00000473598.6:c.1464G>A	ENSP00000421821.1:p.Leu488=
ENST00000496738.5:n.1974G>A
ENST00000506981.1:n.345G>A
ENST00000508500.1:c.549G>A	ENSP00000424977.1:p.Leu183=
NM_001257374.2:c.1425G>A	NP_001244303.1:p.Leu475=
NM_001282626.1:c.1761G>A	NP_001269555.1:p.Leu587=
NM_170707.3:c.1761G>A	NP_733821.1:p.Leu587=
NM_170708.3:c.1671G>A	NP_733822.1:p.Leu557=
XM_011509533.1:c.1425G>A	XP_011507835.1:p.Leu475=
XM_011509534.1:c.1137G>A	XP_011507836.1:p.Leu379=
XR_921781.1:n.2050G>A
XM_011509534.2:c.1137G>A	XP_011507836.1:p.Leu379=
XR_921781.2:n.2048G>A
NM_170707.4:c.1761G>A MANE Select	NP_733821.1:p.Leu587=
NM_001257374.3:c.1425G>A	NP_001244303.1:p.Leu475=
NM_001282626.2:c.1761G>A	NP_001269555.1:p.Leu587=
NM_170708.4:c.1671G>A	NP_733822.1:p.Leu557=