Canonical Allele Identifier: CA015226

Gene: LMNA

Linked Data

• ClinVar Variation Id: 14516
• ClinVar RCV Id: RCV000015611 ; RCV000057362
• dbSNP Id: rs59886214
• MyVariant Identifiers: chr1:g.156108401G>A (hg19) ; chr1:g.156138610G>A (hg38)
• PubMed: PMID:17469202 ; PMID:20301300

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156138610G>A , CM000663.2:g.156138610G>A	GRCh38
NC_000001.10:g.156108401G>A , CM000663.1:g.156108401G>A	GRCh37
NC_000001.9:g.154375025G>A	NCBI36
NG_008692.2:g.61038G>A , LRG_254:g.61038G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.1263G>A	ENSP00000426535.3:p.Val421=
ENST00000682650.1:c.1731G>A	ENSP00000506904.1:p.Val577=
ENST00000683032.1:c.1821G>A	ENSP00000506771.1:p.Val607=
ENST00000683773.1:n.163+3G>A
ENST00000684195.1:c.*913G>A	ENSP00000508220.1:n.*913G>A
ENST00000361308.9:c.1821G>A	ENSP00000355292.6:p.Val607=
ENST00000368300.9:c.1821G>A MANE Select	ENSP00000357283.4:p.Val607=
ENST00000674518.1:c.*1171G>A	ENSP00000502261.1:n.*1171G>A
ENST00000674600.1:c.*1620G>A	ENSP00000501666.1:n.*1620G>A
ENST00000675455.1:c.*1621G>A	ENSP00000501795.1:n.*1621G>A
ENST00000675667.1:c.1821G>A	ENSP00000501803.1:p.Val607=
ENST00000675874.1:c.*1292G>A	ENSP00000501851.1:n.*1292G>A
ENST00000675881.1:c.*832G>A	ENSP00000501670.1:n.*832G>A
ENST00000675939.1:c.1821G>A	ENSP00000502256.1:p.Val607=
ENST00000675989.1:n.3424G>A
ENST00000676208.1:c.*924G>A	ENSP00000502468.1:n.*924G>A
ENST00000676385.2:c.1731G>A	ENSP00000502091.1:p.Val577=
ENST00000676434.1:c.*1576G>A	ENSP00000501648.1:n.*1576G>A
ENST00000347559.6:c.1731G>A	ENSP00000292304.3:p.Val577=
ENST00000368299.7:c.1818+3G>A	ENSP00000357282.3:n.1818+3G>A
ENST00000368300.8:c.1821G>A	ENSP00000357283.4:p.Val607=
ENST00000448611.6:c.1485G>A	ENSP00000395597.2:p.Val495=
ENST00000473598.6:c.1524G>A	ENSP00000421821.1:p.Val508=
ENST00000496738.5:n.2034G>A
ENST00000506981.1:n.405G>A
ENST00000508500.1:c.609G>A	ENSP00000424977.1:p.Val203=
NM_001257374.2:c.1485G>A	NP_001244303.1:p.Val495=
NM_001282626.1:c.1818+3G>A	NP_001269555.1:n.1818+3G>A
NM_170707.3:c.1821G>A	NP_733821.1:p.Val607=
NM_170708.3:c.1731G>A	NP_733822.1:p.Val577=
XM_011509533.1:c.1485G>A	XP_011507835.1:p.Val495=
XM_011509534.1:c.1197G>A	XP_011507836.1:p.Val399=
XR_921781.1:n.2110G>A
XM_011509534.2:c.1197G>A	XP_011507836.1:p.Val399=
XR_921781.2:n.2108G>A
NM_170707.4:c.1821G>A MANE Select	NP_733821.1:p.Val607=
NM_001257374.3:c.1485G>A	NP_001244303.1:p.Val495=
NM_001282626.2:c.1818+3G>A	NP_001269555.1:n.1818+3G>A
NM_170708.4:c.1731G>A	NP_733822.1:p.Val577=