Canonical Allele Identifier: CA342828314

Gene: LMNA

Linked Data

• MyVariant Identifiers: chr1:g.156108546C>A (hg19) ; chr1:g.156138755C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156138755C>A , CM000663.2:g.156138755C>A	GRCh38
NC_000001.10:g.156108546C>A , CM000663.1:g.156108546C>A	GRCh37
NC_000001.9:g.154375170C>A	NCBI36
NG_008692.2:g.61183C>A , LRG_254:g.61183C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000504687.7:c.1408C>A	ENSP00000426535.3:p.Gln470Lys
ENST00000682650.1:c.1876C>A	ENSP00000506904.1:p.Gln626Lys
ENST00000683032.1:c.1966C>A	ENSP00000506771.1:p.Gln656Lys
ENST00000683773.1:n.163+148C>A
ENST00000684195.1:c.*1058C>A	ENSP00000508220.1:n.*1058C>A
ENST00000361308.9:c.1966C>A	ENSP00000355292.6:p.Gln656Lys
ENST00000368300.9:c.1966C>A MANE Select	ENSP00000357283.4:p.Gln656Lys
ENST00000674518.1:c.*1316C>A	ENSP00000502261.1:n.*1316C>A
ENST00000674600.1:c.*1765C>A	ENSP00000501666.1:n.*1765C>A
ENST00000675455.1:c.*1766C>A	ENSP00000501795.1:n.*1766C>A
ENST00000675667.1:c.1966C>A	ENSP00000501803.1:p.Gln656Lys
ENST00000675874.1:c.*1437C>A	ENSP00000501851.1:n.*1437C>A
ENST00000675881.1:c.*977C>A	ENSP00000501670.1:n.*977C>A
ENST00000675939.1:c.1966C>A	ENSP00000502256.1:p.Gln656Lys
ENST00000675989.1:n.3569C>A
ENST00000676208.1:c.*1069C>A	ENSP00000502468.1:n.*1069C>A
ENST00000676385.2:c.1876C>A	ENSP00000502091.1:p.Gln626Lys
ENST00000676434.1:c.*1721C>A	ENSP00000501648.1:n.*1721C>A
ENST00000347559.6:c.1876C>A	ENSP00000292304.3:p.Gln626Lys
ENST00000368299.7:c.1818+148C>A	ENSP00000357282.3:n.1818+148C>A
ENST00000368300.8:c.1966C>A	ENSP00000357283.4:p.Gln656Lys
ENST00000448611.6:c.1630C>A	ENSP00000395597.2:p.Gln544Lys
ENST00000473598.6:c.1669C>A	ENSP00000421821.1:p.Gln557Lys
ENST00000496738.5:n.2179C>A
ENST00000506981.1:n.550C>A
ENST00000508500.1:c.754C>A	ENSP00000424977.1:p.Gln252Lys
NM_001257374.2:c.1630C>A	NP_001244303.1:p.Gln544Lys
NM_001282626.1:c.1818+148C>A	NP_001269555.1:n.1818+148C>A
NM_170707.3:c.1966C>A	NP_733821.1:p.Gln656Lys
NM_170708.3:c.1876C>A	NP_733822.1:p.Gln626Lys
XM_011509533.1:c.1630C>A	XP_011507835.1:p.Gln544Lys
XM_011509534.1:c.1342C>A	XP_011507836.1:p.Gln448Lys
XR_921781.1:n.2255C>A
XM_011509534.2:c.1342C>A	XP_011507836.1:p.Gln448Lys
XR_921781.2:n.2253C>A
NM_170707.4:c.1966C>A MANE Select	NP_733821.1:p.Gln656Lys
NM_001257374.3:c.1630C>A	NP_001244303.1:p.Gln544Lys
NM_001282626.2:c.1818+148C>A	NP_001269555.1:n.1818+148C>A
NM_170708.4:c.1876C>A	NP_733822.1:p.Gln626Lys