Canonical Allele Identifier: CA349405612

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530107G>T , CM000664.2:g.178530107G>T GRCh38
NC_000002.11:g.179394834G>T , CM000664.1:g.179394834G>T GRCh37
NC_000002.10:g.179103080G>T NCBI36
NG_011618.3:g.305696C>A , LRG_391:g.305696C>A
NG_051363.1:g.12281G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98680C>A (TTN) ENSP00000343764.6:p.Gln32894Lys
ENST00000342175.11:c.79765C>A (TTN) ENSP00000340554.6:p.Gln26589Lys
ENST00000359218.10:c.79564C>A (TTN) ENSP00000352154.5:p.Gln26522Lys
ENST00000342175.10:c.79765C>A (TTN) ENSP00000340554.6:p.Gln26589Lys
ENST00000342992.10:c.98680C>A (TTN) ENSP00000343764.6:p.Gln32894Lys
ENST00000359218.9:c.79564C>A (TTN) ENSP00000352154.5:p.Gln26522Lys
ENST00000460472.6:c.79189C>A (TTN) ENSP00000434586.1:p.Gln26397Lys
ENST00000589042.5:c.106384C>A (TTN) MANE Select ENSP00000467141.1:p.Gln35462Lys
ENST00000591111.5:c.101461C>A (TTN) ENSP00000465570.1:p.Gln33821Lys
ENST00000615779.4:c.101461C>A (TTN) ENSP00000483597.1:p.Gln33821Lys
NM_001256850.1:c.101461C>A (TTN) NP_001243779.1:p.Gln33821Lys
NM_001267550.2:c.106384C>A (TTN) MANE Select NP_001254479.2:p.Gln35462Lys
NM_003319.4:c.79189C>A (TTN) NP_003310.4:p.Gln26397Lys
NM_133378.4:c.98680C>A (TTN) NP_596869.4:p.Gln32894Lys
NM_133432.3:c.79564C>A (TTN) NP_597676.3:p.Gln26522Lys
NM_133437.4:c.79765C>A (TTN) NP_597681.4:p.Gln26589Lys
NR_038271.1:n.446+6471G>T (TTN-AS1)
NR_038272.1:n.220-5625G>T (TTN-AS1)
XM_011511729.1:c.105481C>A (TTN) XP_011510031.1:p.Gln35161Lys
XM_011511730.1:c.79375C>A (TTN) XP_011510032.1:p.Gln26459Lys
XM_011511731.1:c.79234C>A (TTN) XP_011510033.1:p.Gln26412Lys
XM_017004819.1:c.105277C>A (TTN) XP_016860308.1:p.Gln35093Lys
XM_017004820.1:c.100675C>A (TTN) XP_016860309.1:p.Gln33559Lys
XM_017004821.1:c.100672C>A (TTN) XP_016860310.1:p.Gln33558Lys
XM_017004822.1:c.97714C>A (TTN) XP_016860311.1:p.Gln32572Lys
XM_017004823.1:c.79330C>A (TTN) XP_016860312.1:p.Gln26444Lys
XM_024453094.1:c.100825C>A (TTN) XP_024308862.1:p.Gln33609Lys
XM_024453095.1:c.100822C>A (TTN) XP_024308863.1:p.Gln33608Lys
XM_024453096.1:c.100255C>A (TTN) XP_024308864.1:p.Gln33419Lys
XM_024453097.1:c.97597C>A (TTN) XP_024308865.1:p.Gln32533Lys
XM_024453098.1:c.97516C>A (TTN) XP_024308866.1:p.Gln32506Lys
XM_024453099.1:c.79279C>A (TTN) XP_024308867.1:p.Gln26427Lys
XM_024453100.1:c.69133C>A (TTN) XP_024308868.1:p.Gln23045Lys