Canonical Allele Identifier: CA017675

Gene: LMNA

Linked Data

• ClinVar Variation Id: 14477
• ClinVar RCV Id: RCV000015564 ; RCV000041328 ; RCV000057350 ; RCV002286397
• dbSNP Id: rs61046466
• gnomAD v2: 1-156084725-C-T
• MyVariant Identifiers: chr1:g.156084725C>T (hg19) ; chr1:g.156114934C>T (hg38)
• PubMed: PMID:10080180 ; PMID:11138304 ; PMID:20301717

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156114934C>T , CM000663.2:g.156114934C>T	GRCh38
NC_000001.10:g.156084725C>T , CM000663.1:g.156084725C>T	GRCh37
NC_000001.9:g.154351349C>T	NCBI36
NG_008692.2:g.37362C>T , LRG_254:g.37362C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682650.1:c.16C>T	ENSP00000506904.1:p.Gln6Ter
ENST00000683032.1:c.16C>T	ENSP00000506771.1:p.Gln6Ter
ENST00000684195.1:c.16C>T	ENSP00000508220.1:p.Gln6Ter
ENST00000361308.9:c.16C>T	ENSP00000355292.6:p.Gln6Ter
ENST00000368300.9:c.16C>T MANE Select	ENSP00000357283.4:p.Gln6Ter
ENST00000496738.6:n.391C>T
ENST00000674518.1:c.16C>T	ENSP00000502261.1:p.Gln6Ter
ENST00000674600.1:c.16C>T	ENSP00000501666.1:p.Gln6Ter
ENST00000674720.1:c.16C>T	ENSP00000502798.1:p.Gln6Ter
ENST00000675455.1:c.16C>T	ENSP00000501795.1:p.Gln6Ter
ENST00000675667.1:c.16C>T	ENSP00000501803.1:p.Gln6Ter
ENST00000675874.1:c.16C>T	ENSP00000501851.1:p.Gln6Ter
ENST00000675881.1:c.16C>T	ENSP00000501670.1:p.Gln6Ter
ENST00000675939.1:c.16C>T	ENSP00000502256.1:p.Gln6Ter
ENST00000675989.1:n.391C>T
ENST00000676208.1:c.16C>T	ENSP00000502468.1:p.Gln6Ter
ENST00000676283.1:n.391C>T
ENST00000676385.2:c.16C>T	ENSP00000502091.1:p.Gln6Ter
ENST00000676434.1:c.16C>T	ENSP00000501648.1:p.Gln6Ter
ENST00000677389.1:c.16C>T MANE Plus Clinical	ENSP00000503633.1:p.Gln6Ter
ENST00000347559.6:c.16C>T	ENSP00000292304.3:p.Gln6Ter
ENST00000361308.8:c.16C>T	ENSP00000355292.5:p.Gln6Ter
ENST00000368299.7:c.16C>T	ENSP00000357282.3:p.Gln6Ter
ENST00000368300.8:c.16C>T	ENSP00000357283.4:p.Gln6Ter
ENST00000368301.6:c.16C>T	ENSP00000357284.2:p.Gln6Ter
ENST00000469565.6:n.80-30C>T
ENST00000470199.2:n.224C>T
ENST00000478063.2:n.201+23C>T
ENST00000502751.5:n.329-15683C>T
NM_001282625.1:c.16C>T	NP_001269554.1:p.Gln6Ter
NM_001282626.1:c.16C>T	NP_001269555.1:p.Gln6Ter
NM_005572.3:c.16C>T , LRG_254t1:c.16C>T	NP_005563.1:p.Gln6Ter
NM_170707.3:c.16C>T	NP_733821.1:p.Gln6Ter
NM_170708.3:c.16C>T	NP_733822.1:p.Gln6Ter
XR_921781.1:n.265C>T
XR_921781.2:n.263C>T
NM_170707.4:c.16C>T MANE Select	NP_733821.1:p.Gln6Ter
NM_001282626.2:c.16C>T	NP_001269555.1:p.Gln6Ter
NM_001282625.2:c.16C>T	NP_001269554.1:p.Gln6Ter
NM_005572.4:c.16C>T MANE Plus Clinical	NP_005563.1:p.Gln6Ter
NM_170708.4:c.16C>T	NP_733822.1:p.Gln6Ter