Canonical Allele Identifier: CA1140495919
Community Standard Title: NM_170707.4(LMNA):c.585C= (p.Asn195=)
Gene: LMNA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156134474C= , CM000663.2:g.156134474C= GRCh38
NC_000001.10:g.156104265C= , CM000663.1:g.156104265C= GRCh37
NC_000001.9:g.154370889C= NCBI36
NG_008692.2:g.56902C= , LRG_254:g.56902C=

Transcript Alleles

HGVS Amino-acid Change
NM_170707.4:c.585C= MANE Select NP_733821.1:p.Asn195=
ENST00000368300.9:c.585C= MANE Select ENSP00000357283.4:p.Asn195=
NM_005572.4:c.585C= MANE Plus Clinical NP_005563.1:p.Asn195=
ENST00000677389.1:c.585C= MANE Plus Clinical ENSP00000503633.1:p.Asn195=
NM_001257374.2:c.249C= NP_001244303.1:p.Asn83=
NM_001257374.3:c.249C= NP_001244303.1:p.Asn83=
NM_001282624.1:c.342C= NP_001269553.1:p.Asn114=
NM_001282624.2:c.342C= NP_001269553.1:p.Asn114=
NM_001282625.1:c.585C= NP_001269554.1:p.Asn195=
NM_001282625.2:c.585C= NP_001269554.1:p.Asn195=
NM_001282626.1:c.585C= NP_001269555.1:p.Asn195=
NM_001282626.2:c.585C= NP_001269555.1:p.Asn195=
NM_005572.3:c.585C= , LRG_254t1:c.585C= NP_005563.1:p.Asn195=
NM_170707.3:c.585C= NP_733821.1:p.Asn195=
NM_170708.3:c.585C= NP_733822.1:p.Asn195=
NM_170708.4:c.585C= NP_733822.1:p.Asn195=
ENST00000347559.6:c.585C= ENSP00000292304.3:p.Asn195=
ENST00000361308.8:c.585C= ENSP00000355292.5:p.Asn195=
ENST00000361308.9:c.585C= ENSP00000355292.6:p.Asn195=
ENST00000368297.5:c.342C= ENSP00000357280.1:p.Asn114=
ENST00000368299.7:c.585C= ENSP00000357282.3:p.Asn195=
ENST00000368300.8:c.585C= ENSP00000357283.4:p.Asn195=
ENST00000368301.6:c.585C= ENSP00000357284.2:p.Asn195=
ENST00000448611.6:c.249C= ENSP00000395597.2:p.Asn83=
ENST00000470199.2:n.527C=
ENST00000473598.6:c.288C= ENSP00000421821.1:p.Asn96=
ENST00000496738.6:n.960C=
ENST00000502357.5:n.483C=
ENST00000502751.5:n.557C=
ENST00000504687.5:c.336C= ENSP00000426535.1:p.Asn112=
ENST00000504687.6:c.-80C= ENSP00000426535.2:n.-80C=
ENST00000504687.7:c.27C= ENSP00000426535.3:p.Asn9=
ENST00000515459.5:c.*259C= ENSP00000424518.1:n.*259C=
ENST00000674518.1:c.585C= ENSP00000502261.1:p.Asn195=
ENST00000674600.1:c.*384C= ENSP00000501666.1:n.*384C=
ENST00000674720.1:c.585C= ENSP00000502798.1:p.Asn195=
ENST00000675431.1:n.278C=
ENST00000675455.1:c.*385C= ENSP00000501795.1:n.*385C=
ENST00000675667.1:c.585C= ENSP00000501803.1:p.Asn195=
ENST00000675874.1:c.*56C= ENSP00000501851.1:n.*56C=
ENST00000675881.1:c.585C= ENSP00000501670.1:p.Asn195=
ENST00000675939.1:c.585C= ENSP00000502256.1:p.Asn195=
ENST00000675989.1:n.960C=
ENST00000676208.1:c.585C= ENSP00000502468.1:p.Asn195=
ENST00000676283.1:n.960C=
ENST00000676385.2:c.585C= ENSP00000502091.1:p.Asn195=
ENST00000676434.1:c.585C= ENSP00000501648.1:p.Asn195=
ENST00000682650.1:c.585C= ENSP00000506904.1:p.Asn195=
ENST00000683032.1:c.585C= ENSP00000506771.1:p.Asn195=
ENST00000684195.1:c.585C= ENSP00000508220.1:p.Asn195=
XM_011509533.1:c.249C= XP_011507835.1:p.Asn83=
XM_011509534.1:c.-80C= XP_011507836.1:n.-80C=
XM_011509534.2:c.-80C= XP_011507836.1:n.-80C=
XR_921781.1:n.834C=
XR_921781.2:n.832C=