Canonical Allele Identifier: CA349405606

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98680C>T (TTN) ENSP00000343764.6:p.Gln32894Ter
ENST00000342175.11:c.79765C>T (TTN) ENSP00000340554.6:p.Gln26589Ter
ENST00000359218.10:c.79564C>T (TTN) ENSP00000352154.5:p.Gln26522Ter
ENST00000342175.10:c.79765C>T (TTN) ENSP00000340554.6:p.Gln26589Ter
ENST00000342992.10:c.98680C>T (TTN) ENSP00000343764.6:p.Gln32894Ter
ENST00000359218.9:c.79564C>T (TTN) ENSP00000352154.5:p.Gln26522Ter
ENST00000460472.6:c.79189C>T (TTN) ENSP00000434586.1:p.Gln26397Ter
ENST00000589042.5:c.106384C>T (TTN) MANE Select ENSP00000467141.1:p.Gln35462Ter
ENST00000591111.5:c.101461C>T (TTN) ENSP00000465570.1:p.Gln33821Ter
ENST00000615779.4:c.101461C>T (TTN) ENSP00000483597.1:p.Gln33821Ter
NM_001256850.1:c.101461C>T (TTN) NP_001243779.1:p.Gln33821Ter
NM_001267550.2:c.106384C>T (TTN) MANE Select NP_001254479.2:p.Gln35462Ter
NM_003319.4:c.79189C>T (TTN) NP_003310.4:p.Gln26397Ter
NM_133378.4:c.98680C>T (TTN) NP_596869.4:p.Gln32894Ter
NM_133432.3:c.79564C>T (TTN) NP_597676.3:p.Gln26522Ter
NM_133437.4:c.79765C>T (TTN) NP_597681.4:p.Gln26589Ter
NR_038271.1:n.446+6471G>A (TTN-AS1)
NR_038272.1:n.220-5625G>A (TTN-AS1)
XM_011511729.1:c.105481C>T (TTN) XP_011510031.1:p.Gln35161Ter
XM_011511730.1:c.79375C>T (TTN) XP_011510032.1:p.Gln26459Ter
XM_011511731.1:c.79234C>T (TTN) XP_011510033.1:p.Gln26412Ter
XM_017004819.1:c.105277C>T (TTN) XP_016860308.1:p.Gln35093Ter
XM_017004820.1:c.100675C>T (TTN) XP_016860309.1:p.Gln33559Ter
XM_017004821.1:c.100672C>T (TTN) XP_016860310.1:p.Gln33558Ter
XM_017004822.1:c.97714C>T (TTN) XP_016860311.1:p.Gln32572Ter
XM_017004823.1:c.79330C>T (TTN) XP_016860312.1:p.Gln26444Ter
XM_024453094.1:c.100825C>T (TTN) XP_024308862.1:p.Gln33609Ter
XM_024453095.1:c.100822C>T (TTN) XP_024308863.1:p.Gln33608Ter
XM_024453096.1:c.100255C>T (TTN) XP_024308864.1:p.Gln33419Ter
XM_024453097.1:c.97597C>T (TTN) XP_024308865.1:p.Gln32533Ter
XM_024453098.1:c.97516C>T (TTN) XP_024308866.1:p.Gln32506Ter
XM_024453099.1:c.79279C>T (TTN) XP_024308867.1:p.Gln26427Ter
XM_024453100.1:c.69133C>T (TTN) XP_024308868.1:p.Gln23045Ter