Canonical Allele Identifier: CA018657

Gene: LMNA

Linked Data

• ClinVar Variation Id: 48084
• ClinVar RCV Id: RCV000041369 ; RCV000057461 ; RCV000617680 ; RCV002513583
• dbSNP Id: rs267607593
• MyVariant Identifiers: chr1:g.156104755T>C (hg19) ; chr1:g.156134964T>C (hg38)
• PubMed: PMID:14684700 ; PMID:18337098 ; PMID:22464770 ; PMID:22806367 ; PMID:24503780

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156134964T>C , CM000663.2:g.156134964T>C	GRCh38
NC_000001.10:g.156104755T>C , CM000663.1:g.156104755T>C	GRCh37
NC_000001.9:g.154371379T>C	NCBI36
NG_008692.2:g.57392T>C , LRG_254:g.57392T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.241T>C	ENSP00000426535.3:p.Tyr81His
ENST00000682650.1:c.799T>C	ENSP00000506904.1:p.Tyr267His
ENST00000683032.1:c.799T>C	ENSP00000506771.1:p.Tyr267His
ENST00000684195.1:c.799T>C	ENSP00000508220.1:p.Tyr267His
ENST00000361308.9:c.799T>C	ENSP00000355292.6:p.Tyr267His
ENST00000368300.9:c.799T>C MANE Select	ENSP00000357283.4:p.Tyr267His
ENST00000496738.6:n.1174T>C
ENST00000674518.1:c.*149T>C	ENSP00000502261.1:n.*149T>C
ENST00000674600.1:c.*598T>C	ENSP00000501666.1:n.*598T>C
ENST00000674720.1:c.799T>C	ENSP00000502798.1:p.Tyr267His
ENST00000675431.1:n.492T>C
ENST00000675455.1:c.*599T>C	ENSP00000501795.1:n.*599T>C
ENST00000675667.1:c.799T>C	ENSP00000501803.1:p.Tyr267His
ENST00000675874.1:c.*270T>C	ENSP00000501851.1:n.*270T>C
ENST00000675881.1:c.799T>C	ENSP00000501670.1:p.Tyr267His
ENST00000675939.1:c.799T>C	ENSP00000502256.1:p.Tyr267His
ENST00000675989.1:n.1174T>C
ENST00000676208.1:c.799T>C	ENSP00000502468.1:p.Tyr267His
ENST00000676283.1:n.1174T>C
ENST00000676385.2:c.799T>C	ENSP00000502091.1:p.Tyr267His
ENST00000676434.1:c.799T>C	ENSP00000501648.1:p.Tyr267His
ENST00000677389.1:c.799T>C MANE Plus Clinical	ENSP00000503633.1:p.Tyr267His
ENST00000347559.6:c.799T>C	ENSP00000292304.3:p.Tyr267His
ENST00000361308.8:c.799T>C	ENSP00000355292.5:p.Tyr267His
ENST00000368297.5:c.556T>C	ENSP00000357280.1:p.Tyr186His
ENST00000368299.7:c.799T>C	ENSP00000357282.3:p.Tyr267His
ENST00000368300.8:c.799T>C	ENSP00000357283.4:p.Tyr267His
ENST00000368301.6:c.799T>C	ENSP00000357284.2:p.Tyr267His
ENST00000448611.6:c.463T>C	ENSP00000395597.2:p.Tyr155His
ENST00000473598.6:c.502T>C	ENSP00000421821.1:p.Tyr168His
ENST00000496738.5:n.144T>C
ENST00000515459.5:c.*473T>C	ENSP00000424518.1:n.*473T>C
ENST00000515824.1:n.160T>C
NM_001257374.2:c.463T>C	NP_001244303.1:p.Tyr155His
NM_001282624.1:c.556T>C	NP_001269553.1:p.Tyr186His
NM_001282625.1:c.799T>C	NP_001269554.1:p.Tyr267His
NM_001282626.1:c.799T>C	NP_001269555.1:p.Tyr267His
NM_005572.3:c.799T>C , LRG_254t1:c.799T>C	NP_005563.1:p.Tyr267His
NM_170707.3:c.799T>C	NP_733821.1:p.Tyr267His
NM_170708.3:c.799T>C	NP_733822.1:p.Tyr267His
XM_011509533.1:c.463T>C	XP_011507835.1:p.Tyr155His
XM_011509534.1:c.135T>C	XP_011507836.1:p.Leu45=
XR_921781.1:n.1048T>C
XM_011509534.2:c.135T>C	XP_011507836.1:p.Leu45=
XR_921781.2:n.1046T>C
NM_170707.4:c.799T>C MANE Select	NP_733821.1:p.Tyr267His
NM_001257374.3:c.463T>C	NP_001244303.1:p.Tyr155His
NM_001282626.2:c.799T>C	NP_001269555.1:p.Tyr267His
NM_001282624.2:c.556T>C	NP_001269553.1:p.Tyr186His
NM_001282625.2:c.799T>C	NP_001269554.1:p.Tyr267His
NM_005572.4:c.799T>C MANE Plus Clinical	NP_005563.1:p.Tyr267His
NM_170708.4:c.799T>C	NP_733822.1:p.Tyr267His