Canonical Allele Identifier: CA10576468
Community Standard Title: NM_001267550.2(TTN):c.86437G>T (p.Glu28813Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178559695C>A , CM000664.2:g.178559695C>A GRCh38
NC_000002.11:g.179424422C>A , CM000664.1:g.179424422C>A GRCh37
NC_000002.10:g.179132668C>A NCBI36
NG_011618.3:g.276108G>T , LRG_391:g.276108G>T
NG_051363.1:g.41869C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.86437G>T (TTN) MANE Select NP_001254479.2:p.Glu28813Ter
ENST00000589042.5:c.86437G>T (TTN) MANE Select ENSP00000467141.1:p.Glu28813Ter
NM_001256850.1:c.81514G>T (TTN) NP_001243779.1:p.Glu27172Ter
NM_003319.4:c.59242G>T (TTN) NP_003310.4:p.Glu19748Ter
NM_133378.4:c.78733G>T (TTN) NP_596869.4:p.Glu26245Ter
NM_133432.3:c.59617G>T (TTN) NP_597676.3:p.Glu19873Ter
NM_133437.4:c.59818G>T (TTN) NP_597681.4:p.Glu19940Ter
NR_038271.1:n.447-11605C>A (TTN-AS1)
NR_038272.1:n.2043+17334C>A (TTN-AS1)
ENST00000342175.10:c.59818G>T (TTN) ENSP00000340554.6:p.Glu19940Ter
ENST00000342175.11:c.59818G>T (TTN) ENSP00000340554.6:p.Glu19940Ter
ENST00000342992.10:c.78733G>T (TTN) ENSP00000343764.6:p.Glu26245Ter
ENST00000342992.11:c.78733G>T (TTN) ENSP00000343764.6:p.Glu26245Ter
ENST00000359218.10:c.59617G>T (TTN) ENSP00000352154.5:p.Glu19873Ter
ENST00000359218.9:c.59617G>T (TTN) ENSP00000352154.5:p.Glu19873Ter
ENST00000460472.6:c.59242G>T (TTN) ENSP00000434586.1:p.Glu19748Ter
ENST00000591111.5:c.81514G>T (TTN) ENSP00000465570.1:p.Glu27172Ter
ENST00000615779.4:c.81514G>T (TTN) ENSP00000483597.1:p.Glu27172Ter
XM_011511729.1:c.85534G>T (TTN) XP_011510031.1:p.Glu28512Ter
XM_011511730.1:c.59428G>T (TTN) XP_011510032.1:p.Glu19810Ter
XM_011511731.1:c.59287G>T (TTN) XP_011510033.1:p.Glu19763Ter
XM_017004819.1:c.85330G>T (TTN) XP_016860308.1:p.Glu28444Ter
XM_017004820.1:c.80728G>T (TTN) XP_016860309.1:p.Glu26910Ter
XM_017004821.1:c.80725G>T (TTN) XP_016860310.1:p.Glu26909Ter
XM_017004822.1:c.77767G>T (TTN) XP_016860311.1:p.Glu25923Ter
XM_017004823.1:c.59383G>T (TTN) XP_016860312.1:p.Glu19795Ter
XM_024453094.1:c.80878G>T (TTN) XP_024308862.1:p.Glu26960Ter
XM_024453095.1:c.80875G>T (TTN) XP_024308863.1:p.Glu26959Ter
XM_024453096.1:c.80308G>T (TTN) XP_024308864.1:p.Glu26770Ter
XM_024453097.1:c.77650G>T (TTN) XP_024308865.1:p.Glu25884Ter
XM_024453098.1:c.77569G>T (TTN) XP_024308866.1:p.Glu25857Ter
XM_024453099.1:c.59332G>T (TTN) XP_024308867.1:p.Glu19778Ter
XM_024453100.1:c.49186G>T (TTN) XP_024308868.1:p.Glu16396Ter