Canonical Allele Identifier: CA349617518
Community Standard Title: NM_001267550.2(TTN):c.47379C>A (p.Tyr15793Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178617972G>T , CM000664.2:g.178617972G>T GRCh38
NC_000002.11:g.179482699G>T , CM000664.1:g.179482699G>T GRCh37
NC_000002.10:g.179190944G>T NCBI36
NG_011618.3:g.217831C>A , LRG_391:g.217831C>A
NG_051363.1:g.100146G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.47379C>A (TTN) MANE Select NP_001254479.2:p.Tyr15793Ter
ENST00000589042.5:c.47379C>A (TTN) MANE Select ENSP00000467141.1:p.Tyr15793Ter
NM_001256850.1:c.42456C>A (TTN) NP_001243779.1:p.Tyr14152Ter
NM_003319.4:c.20184C>A (TTN) NP_003310.4:p.Tyr6728Ter
NM_133378.4:c.39675C>A (TTN) NP_596869.4:p.Tyr13225Ter
NM_133432.3:c.20559C>A (TTN) NP_597676.3:p.Tyr6853Ter
NM_133437.4:c.20760C>A (TTN) NP_597681.4:p.Tyr6920Ter
NR_038271.1:n.1605-1781G>T (TTN-AS1)
ENST00000342175.10:c.20760C>A (TTN) ENSP00000340554.6:p.Tyr6920Ter
ENST00000342175.11:c.20760C>A (TTN) ENSP00000340554.6:p.Tyr6920Ter
ENST00000342992.10:c.39675C>A (TTN) ENSP00000343764.6:p.Tyr13225Ter
ENST00000342992.11:c.39675C>A (TTN) ENSP00000343764.6:p.Tyr13225Ter
ENST00000359218.10:c.20559C>A (TTN) ENSP00000352154.5:p.Tyr6853Ter
ENST00000359218.9:c.20559C>A (TTN) ENSP00000352154.5:p.Tyr6853Ter
ENST00000460472.6:c.20184C>A (TTN) ENSP00000434586.1:p.Tyr6728Ter
ENST00000591111.5:c.42456C>A (TTN) ENSP00000465570.1:p.Tyr14152Ter
ENST00000615779.4:c.42456C>A (TTN) ENSP00000483597.1:p.Tyr14152Ter
XM_011511729.1:c.46476C>A (TTN) XP_011510031.1:p.Tyr15492Ter
XM_011511730.1:c.20370C>A (TTN) XP_011510032.1:p.Tyr6790Ter
XM_011511731.1:c.20229C>A (TTN) XP_011510033.1:p.Tyr6743Ter
XM_017004819.1:c.46272C>A (TTN) XP_016860308.1:p.Tyr15424Ter
XM_017004820.1:c.41670C>A (TTN) XP_016860309.1:p.Tyr13890Ter
XM_017004821.1:c.41667C>A (TTN) XP_016860310.1:p.Tyr13889Ter
XM_017004822.1:c.38709C>A (TTN) XP_016860311.1:p.Tyr12903Ter
XM_017004823.1:c.20325C>A (TTN) XP_016860312.1:p.Tyr6775Ter
XM_024453094.1:c.41820C>A (TTN) XP_024308862.1:p.Tyr13940Ter
XM_024453095.1:c.41817C>A (TTN) XP_024308863.1:p.Tyr13939Ter
XM_024453096.1:c.41250C>A (TTN) XP_024308864.1:p.Tyr13750Ter
XM_024453097.1:c.38592C>A (TTN) XP_024308865.1:p.Tyr12864Ter
XM_024453098.1:c.38511C>A (TTN) XP_024308866.1:p.Tyr12837Ter
XM_024453099.1:c.20274C>A (TTN) XP_024308867.1:p.Tyr6758Ter
XM_024453100.1:c.10128C>A (TTN) XP_024308868.1:p.Tyr3376Ter