Canonical Allele Identifier: CA342827559
Gene: LMNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156138668C>A , CM000663.2:g.156138668C>A GRCh38
NC_000001.10:g.156108459C>A , CM000663.1:g.156108459C>A GRCh37
NC_000001.9:g.154375083C>A NCBI36
NG_008692.2:g.61096C>A , LRG_254:g.61096C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000504687.7:c.1321C>A ENSP00000426535.3:p.Arg441Ser
ENST00000682650.1:c.1789C>A ENSP00000506904.1:p.Arg597Ser
ENST00000683032.1:c.1879C>A ENSP00000506771.1:p.Arg627Ser
ENST00000683773.1:n.163+61C>A
ENST00000684195.1:c.*971C>A ENSP00000508220.1:n.*971C>A
ENST00000361308.9:c.1879C>A ENSP00000355292.6:p.Arg627Ser
ENST00000368300.9:c.1879C>A MANE Select ENSP00000357283.4:p.Arg627Ser
ENST00000674518.1:c.*1229C>A ENSP00000502261.1:n.*1229C>A
ENST00000674600.1:c.*1678C>A ENSP00000501666.1:n.*1678C>A
ENST00000675455.1:c.*1679C>A ENSP00000501795.1:n.*1679C>A
ENST00000675667.1:c.1879C>A ENSP00000501803.1:p.Arg627Ser
ENST00000675874.1:c.*1350C>A ENSP00000501851.1:n.*1350C>A
ENST00000675881.1:c.*890C>A ENSP00000501670.1:n.*890C>A
ENST00000675939.1:c.1879C>A ENSP00000502256.1:p.Arg627Ser
ENST00000675989.1:n.3482C>A
ENST00000676208.1:c.*982C>A ENSP00000502468.1:n.*982C>A
ENST00000676385.2:c.1789C>A ENSP00000502091.1:p.Arg597Ser
ENST00000676434.1:c.*1634C>A ENSP00000501648.1:n.*1634C>A
ENST00000347559.6:c.1789C>A ENSP00000292304.3:p.Arg597Ser
ENST00000368299.7:c.1818+61C>A ENSP00000357282.3:n.1818+61C>A
ENST00000368300.8:c.1879C>A ENSP00000357283.4:p.Arg627Ser
ENST00000448611.6:c.1543C>A ENSP00000395597.2:p.Arg515Ser
ENST00000473598.6:c.1582C>A ENSP00000421821.1:p.Arg528Ser
ENST00000496738.5:n.2092C>A
ENST00000506981.1:n.463C>A
ENST00000508500.1:c.667C>A ENSP00000424977.1:p.Arg223Ser
NM_001257374.2:c.1543C>A NP_001244303.1:p.Arg515Ser
NM_001282626.1:c.1818+61C>A NP_001269555.1:n.1818+61C>A
NM_170707.3:c.1879C>A NP_733821.1:p.Arg627Ser
NM_170708.3:c.1789C>A NP_733822.1:p.Arg597Ser
XM_011509533.1:c.1543C>A XP_011507835.1:p.Arg515Ser
XM_011509534.1:c.1255C>A XP_011507836.1:p.Arg419Ser
XR_921781.1:n.2168C>A
XM_011509534.2:c.1255C>A XP_011507836.1:p.Arg419Ser
XR_921781.2:n.2166C>A
NM_170707.4:c.1879C>A MANE Select NP_733821.1:p.Arg627Ser
NM_001257374.3:c.1543C>A NP_001244303.1:p.Arg515Ser
NM_001282626.2:c.1818+61C>A NP_001269555.1:n.1818+61C>A
NM_170708.4:c.1789C>A NP_733822.1:p.Arg597Ser