Canonical Allele Identifier: CA261864
Community Standard Title: NM_001267550.2(TTN):c.46782C>A (p.Tyr15594Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178618768G>T , CM000664.2:g.178618768G>T GRCh38
NC_000002.11:g.179483495G>T , CM000664.1:g.179483495G>T GRCh37
NC_000002.10:g.179191740G>T NCBI36
NG_011618.3:g.217035C>A , LRG_391:g.217035C>A
NG_051363.1:g.100942G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.46782C>A (TTN) MANE Select NP_001254479.2:p.Tyr15594Ter
ENST00000589042.5:c.46782C>A (TTN) MANE Select ENSP00000467141.1:p.Tyr15594Ter
NM_001256850.1:c.41859C>A (TTN) NP_001243779.1:p.Tyr13953Ter
NM_003319.4:c.19587C>A (TTN) NP_003310.4:p.Tyr6529Ter
NM_133378.4:c.39078C>A (TTN) NP_596869.4:p.Tyr13026Ter
NM_133432.3:c.19962C>A (TTN) NP_597676.3:p.Tyr6654Ter
NM_133437.4:c.20163C>A (TTN) NP_597681.4:p.Tyr6721Ter
NR_038271.1:n.1605-985G>T (TTN-AS1)
ENST00000342175.10:c.20163C>A (TTN) ENSP00000340554.6:p.Tyr6721Ter
ENST00000342175.11:c.20163C>A (TTN) ENSP00000340554.6:p.Tyr6721Ter
ENST00000342992.10:c.39078C>A (TTN) ENSP00000343764.6:p.Tyr13026Ter
ENST00000342992.11:c.39078C>A (TTN) ENSP00000343764.6:p.Tyr13026Ter
ENST00000359218.10:c.19962C>A (TTN) ENSP00000352154.5:p.Tyr6654Ter
ENST00000359218.9:c.19962C>A (TTN) ENSP00000352154.5:p.Tyr6654Ter
ENST00000460472.6:c.19587C>A (TTN) ENSP00000434586.1:p.Tyr6529Ter
ENST00000591111.5:c.41859C>A (TTN) ENSP00000465570.1:p.Tyr13953Ter
ENST00000615779.4:c.41859C>A (TTN) ENSP00000483597.1:p.Tyr13953Ter
XM_011511729.1:c.45879C>A (TTN) XP_011510031.1:p.Tyr15293Ter
XM_011511730.1:c.19773C>A (TTN) XP_011510032.1:p.Tyr6591Ter
XM_011511731.1:c.19632C>A (TTN) XP_011510033.1:p.Tyr6544Ter
XM_017004819.1:c.45675C>A (TTN) XP_016860308.1:p.Tyr15225Ter
XM_017004820.1:c.41073C>A (TTN) XP_016860309.1:p.Tyr13691Ter
XM_017004821.1:c.41070C>A (TTN) XP_016860310.1:p.Tyr13690Ter
XM_017004822.1:c.38112C>A (TTN) XP_016860311.1:p.Tyr12704Ter
XM_017004823.1:c.19728C>A (TTN) XP_016860312.1:p.Tyr6576Ter
XM_024453094.1:c.41223C>A (TTN) XP_024308862.1:p.Tyr13741Ter
XM_024453095.1:c.41220C>A (TTN) XP_024308863.1:p.Tyr13740Ter
XM_024453096.1:c.40653C>A (TTN) XP_024308864.1:p.Tyr13551Ter
XM_024453097.1:c.37995C>A (TTN) XP_024308865.1:p.Tyr12665Ter
XM_024453098.1:c.37914C>A (TTN) XP_024308866.1:p.Tyr12638Ter
XM_024453099.1:c.19677C>A (TTN) XP_024308867.1:p.Tyr6559Ter
XM_024453100.1:c.9531C>A (TTN) XP_024308868.1:p.Tyr3177Ter