Canonical Allele Identifier: CA349405609

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98680C>G (TTN) ENSP00000343764.6:p.Gln32894Glu
ENST00000342175.11:c.79765C>G (TTN) ENSP00000340554.6:p.Gln26589Glu
ENST00000359218.10:c.79564C>G (TTN) ENSP00000352154.5:p.Gln26522Glu
ENST00000342175.10:c.79765C>G (TTN) ENSP00000340554.6:p.Gln26589Glu
ENST00000342992.10:c.98680C>G (TTN) ENSP00000343764.6:p.Gln32894Glu
ENST00000359218.9:c.79564C>G (TTN) ENSP00000352154.5:p.Gln26522Glu
ENST00000460472.6:c.79189C>G (TTN) ENSP00000434586.1:p.Gln26397Glu
ENST00000589042.5:c.106384C>G (TTN) MANE Select ENSP00000467141.1:p.Gln35462Glu
ENST00000591111.5:c.101461C>G (TTN) ENSP00000465570.1:p.Gln33821Glu
ENST00000615779.4:c.101461C>G (TTN) ENSP00000483597.1:p.Gln33821Glu
NM_001256850.1:c.101461C>G (TTN) NP_001243779.1:p.Gln33821Glu
NM_001267550.2:c.106384C>G (TTN) MANE Select NP_001254479.2:p.Gln35462Glu
NM_003319.4:c.79189C>G (TTN) NP_003310.4:p.Gln26397Glu
NM_133378.4:c.98680C>G (TTN) NP_596869.4:p.Gln32894Glu
NM_133432.3:c.79564C>G (TTN) NP_597676.3:p.Gln26522Glu
NM_133437.4:c.79765C>G (TTN) NP_597681.4:p.Gln26589Glu
NR_038271.1:n.446+6471G>C (TTN-AS1)
NR_038272.1:n.220-5625G>C (TTN-AS1)
XM_011511729.1:c.105481C>G (TTN) XP_011510031.1:p.Gln35161Glu
XM_011511730.1:c.79375C>G (TTN) XP_011510032.1:p.Gln26459Glu
XM_011511731.1:c.79234C>G (TTN) XP_011510033.1:p.Gln26412Glu
XM_017004819.1:c.105277C>G (TTN) XP_016860308.1:p.Gln35093Glu
XM_017004820.1:c.100675C>G (TTN) XP_016860309.1:p.Gln33559Glu
XM_017004821.1:c.100672C>G (TTN) XP_016860310.1:p.Gln33558Glu
XM_017004822.1:c.97714C>G (TTN) XP_016860311.1:p.Gln32572Glu
XM_017004823.1:c.79330C>G (TTN) XP_016860312.1:p.Gln26444Glu
XM_024453094.1:c.100825C>G (TTN) XP_024308862.1:p.Gln33609Glu
XM_024453095.1:c.100822C>G (TTN) XP_024308863.1:p.Gln33608Glu
XM_024453096.1:c.100255C>G (TTN) XP_024308864.1:p.Gln33419Glu
XM_024453097.1:c.97597C>G (TTN) XP_024308865.1:p.Gln32533Glu
XM_024453098.1:c.97516C>G (TTN) XP_024308866.1:p.Gln32506Glu
XM_024453099.1:c.79279C>G (TTN) XP_024308867.1:p.Gln26427Glu
XM_024453100.1:c.69133C>G (TTN) XP_024308868.1:p.Gln23045Glu