Canonical Allele Identifier: CA349583341
Community Standard Title: NM_001267550.2(TTN):c.81130C>T (p.Gln27044Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178565002G>A , CM000664.2:g.178565002G>A GRCh38
NC_000002.11:g.179429729G>A , CM000664.1:g.179429729G>A GRCh37
NC_000002.10:g.179137975G>A NCBI36
NG_011618.3:g.270801C>T , LRG_391:g.270801C>T
NG_051363.1:g.47176G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.81130C>T (TTN) MANE Select NP_001254479.2:p.Gln27044Ter
ENST00000589042.5:c.81130C>T (TTN) MANE Select ENSP00000467141.1:p.Gln27044Ter
NM_001256850.1:c.76207C>T (TTN) NP_001243779.1:p.Gln25403Ter
NM_003319.4:c.53935C>T (TTN) NP_003310.4:p.Gln17979Ter
NM_133378.4:c.73426C>T (TTN) NP_596869.4:p.Gln24476Ter
NM_133432.3:c.54310C>T (TTN) NP_597676.3:p.Gln18104Ter
NM_133437.4:c.54511C>T (TTN) NP_597681.4:p.Gln18171Ter
NR_038271.1:n.447-6298G>A (TTN-AS1)
NR_038272.1:n.2044-17570G>A (TTN-AS1)
ENST00000342175.10:c.54511C>T (TTN) ENSP00000340554.6:p.Gln18171Ter
ENST00000342175.11:c.54511C>T (TTN) ENSP00000340554.6:p.Gln18171Ter
ENST00000342992.10:c.73426C>T (TTN) ENSP00000343764.6:p.Gln24476Ter
ENST00000342992.11:c.73426C>T (TTN) ENSP00000343764.6:p.Gln24476Ter
ENST00000359218.10:c.54310C>T (TTN) ENSP00000352154.5:p.Gln18104Ter
ENST00000359218.9:c.54310C>T (TTN) ENSP00000352154.5:p.Gln18104Ter
ENST00000460472.6:c.53935C>T (TTN) ENSP00000434586.1:p.Gln17979Ter
ENST00000591111.5:c.76207C>T (TTN) ENSP00000465570.1:p.Gln25403Ter
ENST00000615779.4:c.76207C>T (TTN) ENSP00000483597.1:p.Gln25403Ter
XM_011511729.1:c.80227C>T (TTN) XP_011510031.1:p.Gln26743Ter
XM_011511730.1:c.54121C>T (TTN) XP_011510032.1:p.Gln18041Ter
XM_011511731.1:c.53980C>T (TTN) XP_011510033.1:p.Gln17994Ter
XM_017004819.1:c.80023C>T (TTN) XP_016860308.1:p.Gln26675Ter
XM_017004820.1:c.75421C>T (TTN) XP_016860309.1:p.Gln25141Ter
XM_017004821.1:c.75418C>T (TTN) XP_016860310.1:p.Gln25140Ter
XM_017004822.1:c.72460C>T (TTN) XP_016860311.1:p.Gln24154Ter
XM_017004823.1:c.54076C>T (TTN) XP_016860312.1:p.Gln18026Ter
XM_024453094.1:c.75571C>T (TTN) XP_024308862.1:p.Gln25191Ter
XM_024453095.1:c.75568C>T (TTN) XP_024308863.1:p.Gln25190Ter
XM_024453096.1:c.75001C>T (TTN) XP_024308864.1:p.Gln25001Ter
XM_024453097.1:c.72343C>T (TTN) XP_024308865.1:p.Gln24115Ter
XM_024453098.1:c.72262C>T (TTN) XP_024308866.1:p.Gln24088Ter
XM_024453099.1:c.54025C>T (TTN) XP_024308867.1:p.Gln18009Ter
XM_024453100.1:c.43879C>T (TTN) XP_024308868.1:p.Gln14627Ter