Canonical Allele Identifier: CA1310524217

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178547732T= , CM000664.2:g.178547732T= GRCh38
NC_000002.11:g.179412459T= , CM000664.1:g.179412459T= GRCh37
NC_000002.10:g.179120705T= NCBI36
NG_011618.3:g.288071A= , LRG_391:g.288071A=
NG_051363.1:g.29906T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.86190A= (TTN) ENSP00000343764.6:p.Thr28730=
ENST00000342175.11:c.67275A= (TTN) ENSP00000340554.6:p.Thr22425=
ENST00000359218.10:c.67074A= (TTN) ENSP00000352154.5:p.Thr22358=
ENST00000342175.10:c.67275A= (TTN) ENSP00000340554.6:p.Thr22425=
ENST00000342992.10:c.86190A= (TTN) ENSP00000343764.6:p.Thr28730=
ENST00000359218.9:c.67074A= (TTN) ENSP00000352154.5:p.Thr22358=
ENST00000460472.6:c.66699A= (TTN) ENSP00000434586.1:p.Thr22233=
ENST00000589042.5:c.93894A= (TTN) MANE Select ENSP00000467141.1:p.Thr31298=
ENST00000591111.5:c.88971A= (TTN) ENSP00000465570.1:p.Thr29657=
ENST00000615779.4:c.88971A= (TTN) ENSP00000483597.1:p.Thr29657=
NM_001256850.1:c.88971A= (TTN) NP_001243779.1:p.Thr29657=
NM_001267550.2:c.93894A= (TTN) MANE Select NP_001254479.2:p.Thr31298=
NM_003319.4:c.66699A= (TTN) NP_003310.4:p.Thr22233=
NM_133378.4:c.86190A= (TTN) NP_596869.4:p.Thr28730=
NM_133432.3:c.67074A= (TTN) NP_597676.3:p.Thr22358=
NM_133437.4:c.67275A= (TTN) NP_597681.4:p.Thr22425=
NR_038271.1:n.447-23568T= (TTN-AS1)
NR_038272.1:n.2043+5371T= (TTN-AS1)
XM_011511729.1:c.92991A= (TTN) XP_011510031.1:p.Thr30997=
XM_011511730.1:c.66885A= (TTN) XP_011510032.1:p.Thr22295=
XM_011511731.1:c.66744A= (TTN) XP_011510033.1:p.Thr22248=
XM_017004819.1:c.92787A= (TTN) XP_016860308.1:p.Thr30929=
XM_017004820.1:c.88185A= (TTN) XP_016860309.1:p.Thr29395=
XM_017004821.1:c.88182A= (TTN) XP_016860310.1:p.Thr29394=
XM_017004822.1:c.85224A= (TTN) XP_016860311.1:p.Thr28408=
XM_017004823.1:c.66840A= (TTN) XP_016860312.1:p.Thr22280=
XM_024453094.1:c.88335A= (TTN) XP_024308862.1:p.Thr29445=
XM_024453095.1:c.88332A= (TTN) XP_024308863.1:p.Thr29444=
XM_024453096.1:c.87765A= (TTN) XP_024308864.1:p.Thr29255=
XM_024453097.1:c.85107A= (TTN) XP_024308865.1:p.Thr28369=
XM_024453098.1:c.85026A= (TTN) XP_024308866.1:p.Thr28342=
XM_024453099.1:c.66789A= (TTN) XP_024308867.1:p.Thr22263=
XM_024453100.1:c.56643A= (TTN) XP_024308868.1:p.Thr18881=