Canonical Allele Identifier: CA342827540

Gene: LMNA

Linked Data

• MyVariant Identifiers: chr1:g.156108457A>T (hg19) ; chr1:g.156138666A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156138666A>T , CM000663.2:g.156138666A>T	GRCh38
NC_000001.10:g.156108457A>T , CM000663.1:g.156108457A>T	GRCh37
NC_000001.9:g.154375081A>T	NCBI36
NG_008692.2:g.61094A>T , LRG_254:g.61094A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000504687.7:c.1319A>T	ENSP00000426535.3:p.Tyr440Phe
ENST00000682650.1:c.1787A>T	ENSP00000506904.1:p.Tyr596Phe
ENST00000683032.1:c.1877A>T	ENSP00000506771.1:p.Tyr626Phe
ENST00000683773.1:n.163+59A>T
ENST00000684195.1:c.*969A>T	ENSP00000508220.1:n.*969A>T
ENST00000361308.9:c.1877A>T	ENSP00000355292.6:p.Tyr626Phe
ENST00000368300.9:c.1877A>T MANE Select	ENSP00000357283.4:p.Tyr626Phe
ENST00000674518.1:c.*1227A>T	ENSP00000502261.1:n.*1227A>T
ENST00000674600.1:c.*1676A>T	ENSP00000501666.1:n.*1676A>T
ENST00000675455.1:c.*1677A>T	ENSP00000501795.1:n.*1677A>T
ENST00000675667.1:c.1877A>T	ENSP00000501803.1:p.Tyr626Phe
ENST00000675874.1:c.*1348A>T	ENSP00000501851.1:n.*1348A>T
ENST00000675881.1:c.*888A>T	ENSP00000501670.1:n.*888A>T
ENST00000675939.1:c.1877A>T	ENSP00000502256.1:p.Tyr626Phe
ENST00000675989.1:n.3480A>T
ENST00000676208.1:c.*980A>T	ENSP00000502468.1:n.*980A>T
ENST00000676385.2:c.1787A>T	ENSP00000502091.1:p.Tyr596Phe
ENST00000676434.1:c.*1632A>T	ENSP00000501648.1:n.*1632A>T
ENST00000347559.6:c.1787A>T	ENSP00000292304.3:p.Tyr596Phe
ENST00000368299.7:c.1818+59A>T	ENSP00000357282.3:n.1818+59A>T
ENST00000368300.8:c.1877A>T	ENSP00000357283.4:p.Tyr626Phe
ENST00000448611.6:c.1541A>T	ENSP00000395597.2:p.Tyr514Phe
ENST00000473598.6:c.1580A>T	ENSP00000421821.1:p.Tyr527Phe
ENST00000496738.5:n.2090A>T
ENST00000506981.1:n.461A>T
ENST00000508500.1:c.665A>T	ENSP00000424977.1:p.Tyr222Phe
NM_001257374.2:c.1541A>T	NP_001244303.1:p.Tyr514Phe
NM_001282626.1:c.1818+59A>T	NP_001269555.1:n.1818+59A>T
NM_170707.3:c.1877A>T	NP_733821.1:p.Tyr626Phe
NM_170708.3:c.1787A>T	NP_733822.1:p.Tyr596Phe
XM_011509533.1:c.1541A>T	XP_011507835.1:p.Tyr514Phe
XM_011509534.1:c.1253A>T	XP_011507836.1:p.Tyr418Phe
XR_921781.1:n.2166A>T
XM_011509534.2:c.1253A>T	XP_011507836.1:p.Tyr418Phe
XR_921781.2:n.2164A>T
NM_170707.4:c.1877A>T MANE Select	NP_733821.1:p.Tyr626Phe
NM_001257374.3:c.1541A>T	NP_001244303.1:p.Tyr514Phe
NM_001282626.2:c.1818+59A>T	NP_001269555.1:n.1818+59A>T
NM_170708.4:c.1787A>T	NP_733822.1:p.Tyr596Phe