Canonical Allele Identifier: CA342827913
Gene: LMNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156138707A>T , CM000663.2:g.156138707A>T GRCh38
NC_000001.10:g.156108498A>T , CM000663.1:g.156108498A>T GRCh37
NC_000001.9:g.154375122A>T NCBI36
NG_008692.2:g.61135A>T , LRG_254:g.61135A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000504687.7:c.1360A>T ENSP00000426535.3:p.Asn454Tyr
ENST00000682650.1:c.1828A>T ENSP00000506904.1:p.Asn610Tyr
ENST00000683032.1:c.1918A>T ENSP00000506771.1:p.Asn640Tyr
ENST00000683773.1:n.163+100A>T
ENST00000684195.1:c.*1010A>T ENSP00000508220.1:n.*1010A>T
ENST00000361308.9:c.1918A>T ENSP00000355292.6:p.Asn640Tyr
ENST00000368300.9:c.1918A>T MANE Select ENSP00000357283.4:p.Asn640Tyr
ENST00000674518.1:c.*1268A>T ENSP00000502261.1:n.*1268A>T
ENST00000674600.1:c.*1717A>T ENSP00000501666.1:n.*1717A>T
ENST00000675455.1:c.*1718A>T ENSP00000501795.1:n.*1718A>T
ENST00000675667.1:c.1918A>T ENSP00000501803.1:p.Asn640Tyr
ENST00000675874.1:c.*1389A>T ENSP00000501851.1:n.*1389A>T
ENST00000675881.1:c.*929A>T ENSP00000501670.1:n.*929A>T
ENST00000675939.1:c.1918A>T ENSP00000502256.1:p.Asn640Tyr
ENST00000675989.1:n.3521A>T
ENST00000676208.1:c.*1021A>T ENSP00000502468.1:n.*1021A>T
ENST00000676385.2:c.1828A>T ENSP00000502091.1:p.Asn610Tyr
ENST00000676434.1:c.*1673A>T ENSP00000501648.1:n.*1673A>T
ENST00000347559.6:c.1828A>T ENSP00000292304.3:p.Asn610Tyr
ENST00000368299.7:c.1818+100A>T ENSP00000357282.3:n.1818+100A>T
ENST00000368300.8:c.1918A>T ENSP00000357283.4:p.Asn640Tyr
ENST00000448611.6:c.1582A>T ENSP00000395597.2:p.Asn528Tyr
ENST00000473598.6:c.1621A>T ENSP00000421821.1:p.Asn541Tyr
ENST00000496738.5:n.2131A>T
ENST00000506981.1:n.502A>T
ENST00000508500.1:c.706A>T ENSP00000424977.1:p.Asn236Tyr
NM_001257374.2:c.1582A>T NP_001244303.1:p.Asn528Tyr
NM_001282626.1:c.1818+100A>T NP_001269555.1:n.1818+100A>T
NM_170707.3:c.1918A>T NP_733821.1:p.Asn640Tyr
NM_170708.3:c.1828A>T NP_733822.1:p.Asn610Tyr
XM_011509533.1:c.1582A>T XP_011507835.1:p.Asn528Tyr
XM_011509534.1:c.1294A>T XP_011507836.1:p.Asn432Tyr
XR_921781.1:n.2207A>T
XM_011509534.2:c.1294A>T XP_011507836.1:p.Asn432Tyr
XR_921781.2:n.2205A>T
NM_170707.4:c.1918A>T MANE Select NP_733821.1:p.Asn640Tyr
NM_001257374.3:c.1582A>T NP_001244303.1:p.Asn528Tyr
NM_001282626.2:c.1818+100A>T NP_001269555.1:n.1818+100A>T
NM_170708.4:c.1828A>T NP_733822.1:p.Asn610Tyr