Canonical Allele Identifier: CA342826282

Gene: LMNA

Linked Data

• gnomAD v4: 1-156138498-G-A
• MyVariant Identifiers: chr1:g.156108289G>A (hg19) ; chr1:g.156138498G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156138498G>A , CM000663.2:g.156138498G>A	GRCh38
NC_000001.10:g.156108289G>A , CM000663.1:g.156108289G>A	GRCh37
NC_000001.9:g.154374913G>A	NCBI36
NG_008692.2:g.60926G>A , LRG_254:g.60926G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.1151G>A	ENSP00000426535.3:p.Cys384Tyr
ENST00000682650.1:c.1619G>A	ENSP00000506904.1:p.Cys540Tyr
ENST00000683032.1:c.1709G>A	ENSP00000506771.1:p.Cys570Tyr
ENST00000683773.1:n.54G>A
ENST00000684195.1:c.*801G>A	ENSP00000508220.1:n.*801G>A
ENST00000361308.9:c.1709G>A	ENSP00000355292.6:p.Cys570Tyr
ENST00000368300.9:c.1709G>A MANE Select	ENSP00000357283.4:p.Cys570Tyr
ENST00000496738.6:n.2912G>A
ENST00000674518.1:c.*1059G>A	ENSP00000502261.1:n.*1059G>A
ENST00000674600.1:c.*1508G>A	ENSP00000501666.1:n.*1508G>A
ENST00000674720.1:c.*1015G>A	ENSP00000502798.1:n.*1015G>A
ENST00000675455.1:c.*1509G>A	ENSP00000501795.1:n.*1509G>A
ENST00000675667.1:c.1709G>A	ENSP00000501803.1:p.Cys570Tyr
ENST00000675874.1:c.*1180G>A	ENSP00000501851.1:n.*1180G>A
ENST00000675881.1:c.*720G>A	ENSP00000501670.1:n.*720G>A
ENST00000675939.1:c.1709G>A	ENSP00000502256.1:p.Cys570Tyr
ENST00000675989.1:n.3312G>A
ENST00000676208.1:c.*812G>A	ENSP00000502468.1:n.*812G>A
ENST00000676283.1:n.3249G>A
ENST00000676385.2:c.1619G>A	ENSP00000502091.1:p.Cys540Tyr
ENST00000676434.1:c.*1464G>A	ENSP00000501648.1:n.*1464G>A
ENST00000347559.6:c.1619G>A	ENSP00000292304.3:p.Cys540Tyr
ENST00000368299.7:c.1709G>A	ENSP00000357282.3:p.Cys570Tyr
ENST00000368300.8:c.1709G>A	ENSP00000357283.4:p.Cys570Tyr
ENST00000448611.6:c.1373G>A	ENSP00000395597.2:p.Cys458Tyr
ENST00000473598.6:c.1412G>A	ENSP00000421821.1:p.Cys471Tyr
ENST00000496738.5:n.1922G>A
ENST00000506981.1:n.293G>A
ENST00000508500.1:c.497G>A	ENSP00000424977.1:p.Cys166Tyr
NM_001257374.2:c.1373G>A	NP_001244303.1:p.Cys458Tyr
NM_001282626.1:c.1709G>A	NP_001269555.1:p.Cys570Tyr
NM_170707.3:c.1709G>A	NP_733821.1:p.Cys570Tyr
NM_170708.3:c.1619G>A	NP_733822.1:p.Cys540Tyr
XM_011509533.1:c.1373G>A	XP_011507835.1:p.Cys458Tyr
XM_011509534.1:c.1085G>A	XP_011507836.1:p.Cys362Tyr
XR_921781.1:n.1998G>A
XM_011509534.2:c.1085G>A	XP_011507836.1:p.Cys362Tyr
XR_921781.2:n.1996G>A
NM_170707.4:c.1709G>A MANE Select	NP_733821.1:p.Cys570Tyr
NM_001257374.3:c.1373G>A	NP_001244303.1:p.Cys458Tyr
NM_001282626.2:c.1709G>A	NP_001269555.1:p.Cys570Tyr
NM_170708.4:c.1619G>A	NP_733822.1:p.Cys540Tyr