Canonical Allele Identifier: CA349428249
Community Standard Title: NM_001267550.2(TTN):c.99487G>T (p.Glu33163Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178537720C>A , CM000664.2:g.178537720C>A GRCh38
NC_000002.11:g.179402447C>A , CM000664.1:g.179402447C>A GRCh37
NC_000002.10:g.179110693C>A NCBI36
NG_011618.3:g.298083G>T , LRG_391:g.298083G>T
NG_051363.1:g.19894C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.99487G>T (TTN) MANE Select NP_001254479.2:p.Glu33163Ter
ENST00000589042.5:c.99487G>T (TTN) MANE Select ENSP00000467141.1:p.Glu33163Ter
NM_001256850.1:c.94564G>T (TTN) NP_001243779.1:p.Glu31522Ter
NM_003319.4:c.72292G>T (TTN) NP_003310.4:p.Glu24098Ter
NM_133378.4:c.91783G>T (TTN) NP_596869.4:p.Glu30595Ter
NM_133432.3:c.72667G>T (TTN) NP_597676.3:p.Glu24223Ter
NM_133437.4:c.72868G>T (TTN) NP_597681.4:p.Glu24290Ter
NR_038271.1:n.446+14084C>A (TTN-AS1)
NR_038272.1:n.647+29C>A (TTN-AS1)
ENST00000342175.10:c.72868G>T (TTN) ENSP00000340554.6:p.Glu24290Ter
ENST00000342175.11:c.72868G>T (TTN) ENSP00000340554.6:p.Glu24290Ter
ENST00000342992.10:c.91783G>T (TTN) ENSP00000343764.6:p.Glu30595Ter
ENST00000342992.11:c.91783G>T (TTN) ENSP00000343764.6:p.Glu30595Ter
ENST00000359218.10:c.72667G>T (TTN) ENSP00000352154.5:p.Glu24223Ter
ENST00000359218.9:c.72667G>T (TTN) ENSP00000352154.5:p.Glu24223Ter
ENST00000460472.6:c.72292G>T (TTN) ENSP00000434586.1:p.Glu24098Ter
ENST00000591111.5:c.94564G>T (TTN) ENSP00000465570.1:p.Glu31522Ter
ENST00000615779.4:c.94564G>T (TTN) ENSP00000483597.1:p.Glu31522Ter
XM_011511729.1:c.98584G>T (TTN) XP_011510031.1:p.Glu32862Ter
XM_011511730.1:c.72478G>T (TTN) XP_011510032.1:p.Glu24160Ter
XM_011511731.1:c.72337G>T (TTN) XP_011510033.1:p.Glu24113Ter
XM_017004819.1:c.98380G>T (TTN) XP_016860308.1:p.Glu32794Ter
XM_017004820.1:c.93778G>T (TTN) XP_016860309.1:p.Glu31260Ter
XM_017004821.1:c.93775G>T (TTN) XP_016860310.1:p.Glu31259Ter
XM_017004822.1:c.90817G>T (TTN) XP_016860311.1:p.Glu30273Ter
XM_017004823.1:c.72433G>T (TTN) XP_016860312.1:p.Glu24145Ter
XM_024453094.1:c.93928G>T (TTN) XP_024308862.1:p.Glu31310Ter
XM_024453095.1:c.93925G>T (TTN) XP_024308863.1:p.Glu31309Ter
XM_024453096.1:c.93358G>T (TTN) XP_024308864.1:p.Glu31120Ter
XM_024453097.1:c.90700G>T (TTN) XP_024308865.1:p.Glu30234Ter
XM_024453098.1:c.90619G>T (TTN) XP_024308866.1:p.Glu30207Ter
XM_024453099.1:c.72382G>T (TTN) XP_024308867.1:p.Glu24128Ter
XM_024453100.1:c.62236G>T (TTN) XP_024308868.1:p.Glu20746Ter