Canonical Allele Identifier: CA1310514676

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530486G= , CM000664.2:g.178530486G= GRCh38
NC_000002.11:g.179395213G= , CM000664.1:g.179395213G= GRCh37
NC_000002.10:g.179103459G= NCBI36
NG_011618.3:g.305317C= , LRG_391:g.305317C=
NG_051363.1:g.12660G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98425C= (TTN) ENSP00000343764.6:p.Gln32809=
ENST00000342175.11:c.79510C= (TTN) ENSP00000340554.6:p.Gln26504=
ENST00000359218.10:c.79309C= (TTN) ENSP00000352154.5:p.Gln26437=
ENST00000342175.10:c.79510C= (TTN) ENSP00000340554.6:p.Gln26504=
ENST00000342992.10:c.98425C= (TTN) ENSP00000343764.6:p.Gln32809=
ENST00000359218.9:c.79309C= (TTN) ENSP00000352154.5:p.Gln26437=
ENST00000460472.6:c.78934C= (TTN) ENSP00000434586.1:p.Gln26312=
ENST00000589042.5:c.106129C= (TTN) MANE Select ENSP00000467141.1:p.Gln35377=
ENST00000591111.5:c.101206C= (TTN) ENSP00000465570.1:p.Gln33736=
ENST00000615779.4:c.101206C= (TTN) ENSP00000483597.1:p.Gln33736=
NM_001256850.1:c.101206C= (TTN) NP_001243779.1:p.Gln33736=
NM_001267550.2:c.106129C= (TTN) MANE Select NP_001254479.2:p.Gln35377=
NM_003319.4:c.78934C= (TTN) NP_003310.4:p.Gln26312=
NM_133378.4:c.98425C= (TTN) NP_596869.4:p.Gln32809=
NM_133432.3:c.79309C= (TTN) NP_597676.3:p.Gln26437=
NM_133437.4:c.79510C= (TTN) NP_597681.4:p.Gln26504=
NR_038271.1:n.446+6850G= (TTN-AS1)
NR_038272.1:n.220-5246G= (TTN-AS1)
XM_011511729.1:c.105226C= (TTN) XP_011510031.1:p.Gln35076=
XM_011511730.1:c.79120C= (TTN) XP_011510032.1:p.Gln26374=
XM_011511731.1:c.78979C= (TTN) XP_011510033.1:p.Gln26327=
XM_017004819.1:c.105022C= (TTN) XP_016860308.1:p.Gln35008=
XM_017004820.1:c.100420C= (TTN) XP_016860309.1:p.Gln33474=
XM_017004821.1:c.100417C= (TTN) XP_016860310.1:p.Gln33473=
XM_017004822.1:c.97459C= (TTN) XP_016860311.1:p.Gln32487=
XM_017004823.1:c.79075C= (TTN) XP_016860312.1:p.Gln26359=
XM_024453094.1:c.100570C= (TTN) XP_024308862.1:p.Gln33524=
XM_024453095.1:c.100567C= (TTN) XP_024308863.1:p.Gln33523=
XM_024453096.1:c.100000C= (TTN) XP_024308864.1:p.Gln33334=
XM_024453097.1:c.97342C= (TTN) XP_024308865.1:p.Gln32448=
XM_024453098.1:c.97261C= (TTN) XP_024308866.1:p.Gln32421=
XM_024453099.1:c.79024C= (TTN) XP_024308867.1:p.Gln26342=
XM_024453100.1:c.68878C= (TTN) XP_024308868.1:p.Gln22960=