Canonical Allele Identifier: CA018615

Gene: LMNA

Linked Data

• ClinVar Variation Id: 14511
• ClinVar RCV Id: RCV000015605 ; RCV000057457
• dbSNP Id: rs58048078
• MyVariant Identifiers: chr1:g.156104733T>A (hg19) ; chr1:g.156134942T>A (hg38)
• PubMed: PMID:12748643 ; PMID:15668447

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156134942T>A , CM000663.2:g.156134942T>A	GRCh38
NC_000001.10:g.156104733T>A , CM000663.1:g.156104733T>A	GRCh37
NC_000001.9:g.154371357T>A	NCBI36
NG_008692.2:g.57370T>A , LRG_254:g.57370T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.219T>A	ENSP00000426535.3:p.Tyr73Ter
ENST00000682650.1:c.777T>A	ENSP00000506904.1:p.Tyr259Ter
ENST00000683032.1:c.777T>A	ENSP00000506771.1:p.Tyr259Ter
ENST00000684195.1:c.777T>A	ENSP00000508220.1:p.Tyr259Ter
ENST00000361308.9:c.777T>A	ENSP00000355292.6:p.Tyr259Ter
ENST00000368300.9:c.777T>A MANE Select	ENSP00000357283.4:p.Tyr259Ter
ENST00000496738.6:n.1152T>A
ENST00000504687.6:c.113T>A	ENSP00000426535.2:p.Ile38Lys
ENST00000674518.1:c.*127T>A	ENSP00000502261.1:n.*127T>A
ENST00000674600.1:c.*576T>A	ENSP00000501666.1:n.*576T>A
ENST00000674720.1:c.777T>A	ENSP00000502798.1:p.Tyr259Ter
ENST00000675431.1:n.470T>A
ENST00000675455.1:c.*577T>A	ENSP00000501795.1:n.*577T>A
ENST00000675667.1:c.777T>A	ENSP00000501803.1:p.Tyr259Ter
ENST00000675874.1:c.*248T>A	ENSP00000501851.1:n.*248T>A
ENST00000675881.1:c.777T>A	ENSP00000501670.1:p.Tyr259Ter
ENST00000675939.1:c.777T>A	ENSP00000502256.1:p.Tyr259Ter
ENST00000675989.1:n.1152T>A
ENST00000676208.1:c.777T>A	ENSP00000502468.1:p.Tyr259Ter
ENST00000676283.1:n.1152T>A
ENST00000676385.2:c.777T>A	ENSP00000502091.1:p.Tyr259Ter
ENST00000676434.1:c.777T>A	ENSP00000501648.1:p.Tyr259Ter
ENST00000677389.1:c.777T>A MANE Plus Clinical	ENSP00000503633.1:p.Tyr259Ter
ENST00000347559.6:c.777T>A	ENSP00000292304.3:p.Tyr259Ter
ENST00000361308.8:c.777T>A	ENSP00000355292.5:p.Tyr259Ter
ENST00000368297.5:c.534T>A	ENSP00000357280.1:p.Tyr178Ter
ENST00000368299.7:c.777T>A	ENSP00000357282.3:p.Tyr259Ter
ENST00000368300.8:c.777T>A	ENSP00000357283.4:p.Tyr259Ter
ENST00000368301.6:c.777T>A	ENSP00000357284.2:p.Tyr259Ter
ENST00000448611.6:c.441T>A	ENSP00000395597.2:p.Tyr147Ter
ENST00000473598.6:c.480T>A	ENSP00000421821.1:p.Tyr160Ter
ENST00000496738.5:n.122T>A
ENST00000504687.5:c.528T>A	ENSP00000426535.1:p.Tyr176Ter
ENST00000515459.5:c.*451T>A	ENSP00000424518.1:n.*451T>A
ENST00000515824.1:n.138T>A
NM_001257374.2:c.441T>A	NP_001244303.1:p.Tyr147Ter
NM_001282624.1:c.534T>A	NP_001269553.1:p.Tyr178Ter
NM_001282625.1:c.777T>A	NP_001269554.1:p.Tyr259Ter
NM_001282626.1:c.777T>A	NP_001269555.1:p.Tyr259Ter
NM_005572.3:c.777T>A , LRG_254t1:c.777T>A	NP_005563.1:p.Tyr259Ter
NM_170707.3:c.777T>A	NP_733821.1:p.Tyr259Ter
NM_170708.3:c.777T>A	NP_733822.1:p.Tyr259Ter
XM_011509533.1:c.441T>A	XP_011507835.1:p.Tyr147Ter
XM_011509534.1:c.113T>A	XP_011507836.1:p.Ile38Lys
XR_921781.1:n.1026T>A
XM_011509534.2:c.113T>A	XP_011507836.1:p.Ile38Lys
XR_921781.2:n.1024T>A
NM_170707.4:c.777T>A MANE Select	NP_733821.1:p.Tyr259Ter
NM_001257374.3:c.441T>A	NP_001244303.1:p.Tyr147Ter
NM_001282626.2:c.777T>A	NP_001269555.1:p.Tyr259Ter
NM_001282624.2:c.534T>A	NP_001269553.1:p.Tyr178Ter
NM_001282625.2:c.777T>A	NP_001269554.1:p.Tyr259Ter
NM_005572.4:c.777T>A MANE Plus Clinical	NP_005563.1:p.Tyr259Ter
NM_170708.4:c.777T>A	NP_733822.1:p.Tyr259Ter