Canonical Allele Identifier: CA051516

Gene: LMNA

Linked Data

• ClinVar Variation Id: 543199
• ClinVar RCV Id: RCV001528327 ; RCV002406473
• dbSNP Id: rs777841827
• ExAC: 1:156108459 C / T
• gnomAD v2: 1-156108459-C-T
• gnomAD v3: 1-156138668-C-T
• gnomAD v4: 1-156138668-C-T
• MyVariant Identifiers: chr1:g.156108459C>T (hg19) ; chr1:g.156138668C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156138668C>T , CM000663.2:g.156138668C>T	GRCh38
NC_000001.10:g.156108459C>T , CM000663.1:g.156108459C>T	GRCh37
NC_000001.9:g.154375083C>T	NCBI36
NG_008692.2:g.61096C>T , LRG_254:g.61096C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000504687.7:c.1321C>T	ENSP00000426535.3:p.Arg441Cys
ENST00000682650.1:c.1789C>T	ENSP00000506904.1:p.Arg597Cys
ENST00000683032.1:c.1879C>T	ENSP00000506771.1:p.Arg627Cys
ENST00000683773.1:n.163+61C>T
ENST00000684195.1:c.*971C>T	ENSP00000508220.1:n.*971C>T
ENST00000361308.9:c.1879C>T	ENSP00000355292.6:p.Arg627Cys
ENST00000368300.9:c.1879C>T MANE Select	ENSP00000357283.4:p.Arg627Cys
ENST00000674518.1:c.*1229C>T	ENSP00000502261.1:n.*1229C>T
ENST00000674600.1:c.*1678C>T	ENSP00000501666.1:n.*1678C>T
ENST00000675455.1:c.*1679C>T	ENSP00000501795.1:n.*1679C>T
ENST00000675667.1:c.1879C>T	ENSP00000501803.1:p.Arg627Cys
ENST00000675874.1:c.*1350C>T	ENSP00000501851.1:n.*1350C>T
ENST00000675881.1:c.*890C>T	ENSP00000501670.1:n.*890C>T
ENST00000675939.1:c.1879C>T	ENSP00000502256.1:p.Arg627Cys
ENST00000675989.1:n.3482C>T
ENST00000676208.1:c.*982C>T	ENSP00000502468.1:n.*982C>T
ENST00000676385.2:c.1789C>T	ENSP00000502091.1:p.Arg597Cys
ENST00000676434.1:c.*1634C>T	ENSP00000501648.1:n.*1634C>T
ENST00000347559.6:c.1789C>T	ENSP00000292304.3:p.Arg597Cys
ENST00000368299.7:c.1818+61C>T	ENSP00000357282.3:n.1818+61C>T
ENST00000368300.8:c.1879C>T	ENSP00000357283.4:p.Arg627Cys
ENST00000448611.6:c.1543C>T	ENSP00000395597.2:p.Arg515Cys
ENST00000473598.6:c.1582C>T	ENSP00000421821.1:p.Arg528Cys
ENST00000496738.5:n.2092C>T
ENST00000506981.1:n.463C>T
ENST00000508500.1:c.667C>T	ENSP00000424977.1:p.Arg223Cys
NM_001257374.2:c.1543C>T	NP_001244303.1:p.Arg515Cys
NM_001282626.1:c.1818+61C>T	NP_001269555.1:n.1818+61C>T
NM_170707.3:c.1879C>T	NP_733821.1:p.Arg627Cys
NM_170708.3:c.1789C>T	NP_733822.1:p.Arg597Cys
XM_011509533.1:c.1543C>T	XP_011507835.1:p.Arg515Cys
XM_011509534.1:c.1255C>T	XP_011507836.1:p.Arg419Cys
XR_921781.1:n.2168C>T
XM_011509534.2:c.1255C>T	XP_011507836.1:p.Arg419Cys
XR_921781.2:n.2166C>T
NM_170707.4:c.1879C>T MANE Select	NP_733821.1:p.Arg627Cys
NM_001257374.3:c.1543C>T	NP_001244303.1:p.Arg515Cys
NM_001282626.2:c.1818+61C>T	NP_001269555.1:n.1818+61C>T
NM_170708.4:c.1789C>T	NP_733822.1:p.Arg597Cys