Canonical Allele Identifier: CA342827512

Gene: LMNA

Linked Data

• MyVariant Identifiers: chr1:g.156108454G>T (hg19) ; chr1:g.156138663G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156138663G>T , CM000663.2:g.156138663G>T	GRCh38
NC_000001.10:g.156108454G>T , CM000663.1:g.156108454G>T	GRCh37
NC_000001.9:g.154375078G>T	NCBI36
NG_008692.2:g.61091G>T , LRG_254:g.61091G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000504687.7:c.1316G>T	ENSP00000426535.3:p.Ser439Ile
ENST00000682650.1:c.1784G>T	ENSP00000506904.1:p.Ser595Ile
ENST00000683032.1:c.1874G>T	ENSP00000506771.1:p.Ser625Ile
ENST00000683773.1:n.163+56G>T
ENST00000684195.1:c.*966G>T	ENSP00000508220.1:n.*966G>T
ENST00000361308.9:c.1874G>T	ENSP00000355292.6:p.Ser625Ile
ENST00000368300.9:c.1874G>T MANE Select	ENSP00000357283.4:p.Ser625Ile
ENST00000674518.1:c.*1224G>T	ENSP00000502261.1:n.*1224G>T
ENST00000674600.1:c.*1673G>T	ENSP00000501666.1:n.*1673G>T
ENST00000675455.1:c.*1674G>T	ENSP00000501795.1:n.*1674G>T
ENST00000675667.1:c.1874G>T	ENSP00000501803.1:p.Ser625Ile
ENST00000675874.1:c.*1345G>T	ENSP00000501851.1:n.*1345G>T
ENST00000675881.1:c.*885G>T	ENSP00000501670.1:n.*885G>T
ENST00000675939.1:c.1874G>T	ENSP00000502256.1:p.Ser625Ile
ENST00000675989.1:n.3477G>T
ENST00000676208.1:c.*977G>T	ENSP00000502468.1:n.*977G>T
ENST00000676385.2:c.1784G>T	ENSP00000502091.1:p.Ser595Ile
ENST00000676434.1:c.*1629G>T	ENSP00000501648.1:n.*1629G>T
ENST00000347559.6:c.1784G>T	ENSP00000292304.3:p.Ser595Ile
ENST00000368299.7:c.1818+56G>T	ENSP00000357282.3:n.1818+56G>T
ENST00000368300.8:c.1874G>T	ENSP00000357283.4:p.Ser625Ile
ENST00000448611.6:c.1538G>T	ENSP00000395597.2:p.Ser513Ile
ENST00000473598.6:c.1577G>T	ENSP00000421821.1:p.Ser526Ile
ENST00000496738.5:n.2087G>T
ENST00000506981.1:n.458G>T
ENST00000508500.1:c.662G>T	ENSP00000424977.1:p.Ser221Ile
NM_001257374.2:c.1538G>T	NP_001244303.1:p.Ser513Ile
NM_001282626.1:c.1818+56G>T	NP_001269555.1:n.1818+56G>T
NM_170707.3:c.1874G>T	NP_733821.1:p.Ser625Ile
NM_170708.3:c.1784G>T	NP_733822.1:p.Ser595Ile
XM_011509533.1:c.1538G>T	XP_011507835.1:p.Ser513Ile
XM_011509534.1:c.1250G>T	XP_011507836.1:p.Ser417Ile
XR_921781.1:n.2163G>T
XM_011509534.2:c.1250G>T	XP_011507836.1:p.Ser417Ile
XR_921781.2:n.2161G>T
NM_170707.4:c.1874G>T MANE Select	NP_733821.1:p.Ser625Ile
NM_001257374.3:c.1538G>T	NP_001244303.1:p.Ser513Ile
NM_001282626.2:c.1818+56G>T	NP_001269555.1:n.1818+56G>T
NM_170708.4:c.1784G>T	NP_733822.1:p.Ser595Ile