Canonical Allele Identifier: CA349543815
Community Standard Title: NM_001267550.2(TTN):c.86437G>C (p.Glu28813Gln)

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.86437G>C (TTN) MANE Select NP_001254479.2:p.Glu28813Gln
ENST00000589042.5:c.86437G>C (TTN) MANE Select ENSP00000467141.1:p.Glu28813Gln
NM_001256850.1:c.81514G>C (TTN) NP_001243779.1:p.Glu27172Gln
NM_003319.4:c.59242G>C (TTN) NP_003310.4:p.Glu19748Gln
NM_133378.4:c.78733G>C (TTN) NP_596869.4:p.Glu26245Gln
NM_133432.3:c.59617G>C (TTN) NP_597676.3:p.Glu19873Gln
NM_133437.4:c.59818G>C (TTN) NP_597681.4:p.Glu19940Gln
NR_038271.1:n.447-11605C>G (TTN-AS1)
NR_038272.1:n.2043+17334C>G (TTN-AS1)
ENST00000342175.10:c.59818G>C (TTN) ENSP00000340554.6:p.Glu19940Gln
ENST00000342175.11:c.59818G>C (TTN) ENSP00000340554.6:p.Glu19940Gln
ENST00000342992.10:c.78733G>C (TTN) ENSP00000343764.6:p.Glu26245Gln
ENST00000342992.11:c.78733G>C (TTN) ENSP00000343764.6:p.Glu26245Gln
ENST00000359218.10:c.59617G>C (TTN) ENSP00000352154.5:p.Glu19873Gln
ENST00000359218.9:c.59617G>C (TTN) ENSP00000352154.5:p.Glu19873Gln
ENST00000460472.6:c.59242G>C (TTN) ENSP00000434586.1:p.Glu19748Gln
ENST00000591111.5:c.81514G>C (TTN) ENSP00000465570.1:p.Glu27172Gln
ENST00000615779.4:c.81514G>C (TTN) ENSP00000483597.1:p.Glu27172Gln
XM_011511729.1:c.85534G>C (TTN) XP_011510031.1:p.Glu28512Gln
XM_011511730.1:c.59428G>C (TTN) XP_011510032.1:p.Glu19810Gln
XM_011511731.1:c.59287G>C (TTN) XP_011510033.1:p.Glu19763Gln
XM_017004819.1:c.85330G>C (TTN) XP_016860308.1:p.Glu28444Gln
XM_017004820.1:c.80728G>C (TTN) XP_016860309.1:p.Glu26910Gln
XM_017004821.1:c.80725G>C (TTN) XP_016860310.1:p.Glu26909Gln
XM_017004822.1:c.77767G>C (TTN) XP_016860311.1:p.Glu25923Gln
XM_017004823.1:c.59383G>C (TTN) XP_016860312.1:p.Glu19795Gln
XM_024453094.1:c.80878G>C (TTN) XP_024308862.1:p.Glu26960Gln
XM_024453095.1:c.80875G>C (TTN) XP_024308863.1:p.Glu26959Gln
XM_024453096.1:c.80308G>C (TTN) XP_024308864.1:p.Glu26770Gln
XM_024453097.1:c.77650G>C (TTN) XP_024308865.1:p.Glu25884Gln
XM_024453098.1:c.77569G>C (TTN) XP_024308866.1:p.Glu25857Gln
XM_024453099.1:c.59332G>C (TTN) XP_024308867.1:p.Glu19778Gln
XM_024453100.1:c.49186G>C (TTN) XP_024308868.1:p.Glu16396Gln