Canonical Allele Identifier: CA014889

Gene: LMNA

Linked Data

• ClinVar Variation Id: 161291
• ClinVar RCV Id: RCV000148599 ; RCV000182377 ; RCV000245708 ; RCV000725647 ; RCV000769735 ; RCV001079490 ; RCV001330501
• dbSNP Id: rs368386019
• ExAC: 1:156108511 G / A
• gnomAD v2: 1-156108511-G-A
• gnomAD v3: 1-156138720-G-A
• gnomAD v4: 1-156138720-G-A
• MyVariant Identifiers: chr1:g.156108511G>A (hg19) ; chr1:g.156138720G>A (hg38)
• PubMed: PMID:15770669 ; PMID:25637381 ; PMID:26900797 ; PMID:28663758

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156138720G>A , CM000663.2:g.156138720G>A	GRCh38
NC_000001.10:g.156108511G>A , CM000663.1:g.156108511G>A	GRCh37
NC_000001.9:g.154375135G>A	NCBI36
NG_008692.2:g.61148G>A , LRG_254:g.61148G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000504687.7:c.1373G>A	ENSP00000426535.3:p.Arg458His
ENST00000682650.1:c.1841G>A	ENSP00000506904.1:p.Arg614His
ENST00000683032.1:c.1931G>A	ENSP00000506771.1:p.Arg644His
ENST00000683773.1:n.163+113G>A
ENST00000684195.1:c.*1023G>A	ENSP00000508220.1:n.*1023G>A
ENST00000361308.9:c.1931G>A	ENSP00000355292.6:p.Arg644His
ENST00000368300.9:c.1931G>A MANE Select	ENSP00000357283.4:p.Arg644His
ENST00000674518.1:c.*1281G>A	ENSP00000502261.1:n.*1281G>A
ENST00000674600.1:c.*1730G>A	ENSP00000501666.1:n.*1730G>A
ENST00000675455.1:c.*1731G>A	ENSP00000501795.1:n.*1731G>A
ENST00000675667.1:c.1931G>A	ENSP00000501803.1:p.Arg644His
ENST00000675874.1:c.*1402G>A	ENSP00000501851.1:n.*1402G>A
ENST00000675881.1:c.*942G>A	ENSP00000501670.1:n.*942G>A
ENST00000675939.1:c.1931G>A	ENSP00000502256.1:p.Arg644His
ENST00000675989.1:n.3534G>A
ENST00000676208.1:c.*1034G>A	ENSP00000502468.1:n.*1034G>A
ENST00000676385.2:c.1841G>A	ENSP00000502091.1:p.Arg614His
ENST00000676434.1:c.*1686G>A	ENSP00000501648.1:n.*1686G>A
ENST00000347559.6:c.1841G>A	ENSP00000292304.3:p.Arg614His
ENST00000368299.7:c.1818+113G>A	ENSP00000357282.3:n.1818+113G>A
ENST00000368300.8:c.1931G>A	ENSP00000357283.4:p.Arg644His
ENST00000448611.6:c.1595G>A	ENSP00000395597.2:p.Arg532His
ENST00000473598.6:c.1634G>A	ENSP00000421821.1:p.Arg545His
ENST00000496738.5:n.2144G>A
ENST00000506981.1:n.515G>A
ENST00000508500.1:c.719G>A	ENSP00000424977.1:p.Arg240His
NM_001257374.2:c.1595G>A	NP_001244303.1:p.Arg532His
NM_001282626.1:c.1818+113G>A	NP_001269555.1:n.1818+113G>A
NM_170707.3:c.1931G>A	NP_733821.1:p.Arg644His
NM_170708.3:c.1841G>A	NP_733822.1:p.Arg614His
XM_011509533.1:c.1595G>A	XP_011507835.1:p.Arg532His
XM_011509534.1:c.1307G>A	XP_011507836.1:p.Arg436His
XR_921781.1:n.2220G>A
XM_011509534.2:c.1307G>A	XP_011507836.1:p.Arg436His
XR_921781.2:n.2218G>A
NM_170707.4:c.1931G>A MANE Select	NP_733821.1:p.Arg644His
NM_001257374.3:c.1595G>A	NP_001244303.1:p.Arg532His
NM_001282626.2:c.1818+113G>A	NP_001269555.1:n.1818+113G>A
NM_170708.4:c.1841G>A	NP_733822.1:p.Arg614His