Canonical Allele Identifier: CA349511896

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178552578C>T , CM000664.2:g.178552578C>T GRCh38
NC_000002.11:g.179417305C>T , CM000664.1:g.179417305C>T GRCh37
NC_000002.10:g.179125551C>T NCBI36
NG_011618.3:g.283225G>A , LRG_391:g.283225G>A
NG_051363.1:g.34752C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.82618G>A (TTN) ENSP00000343764.6:p.Glu27540Lys
ENST00000342175.11:c.63703G>A (TTN) ENSP00000340554.6:p.Glu21235Lys
ENST00000359218.10:c.63502G>A (TTN) ENSP00000352154.5:p.Glu21168Lys
ENST00000342175.10:c.63703G>A (TTN) ENSP00000340554.6:p.Glu21235Lys
ENST00000342992.10:c.82618G>A (TTN) ENSP00000343764.6:p.Glu27540Lys
ENST00000359218.9:c.63502G>A (TTN) ENSP00000352154.5:p.Glu21168Lys
ENST00000460472.6:c.63127G>A (TTN) ENSP00000434586.1:p.Glu21043Lys
ENST00000589042.5:c.90322G>A (TTN) MANE Select ENSP00000467141.1:p.Glu30108Lys
ENST00000591111.5:c.85399G>A (TTN) ENSP00000465570.1:p.Glu28467Lys
ENST00000615779.4:c.85399G>A (TTN) ENSP00000483597.1:p.Glu28467Lys
NM_001256850.1:c.85399G>A (TTN) NP_001243779.1:p.Glu28467Lys
NM_001267550.2:c.90322G>A (TTN) MANE Select NP_001254479.2:p.Glu30108Lys
NM_003319.4:c.63127G>A (TTN) NP_003310.4:p.Glu21043Lys
NM_133378.4:c.82618G>A (TTN) NP_596869.4:p.Glu27540Lys
NM_133432.3:c.63502G>A (TTN) NP_597676.3:p.Glu21168Lys
NM_133437.4:c.63703G>A (TTN) NP_597681.4:p.Glu21235Lys
NR_038271.1:n.447-18722C>T (TTN-AS1)
NR_038272.1:n.2043+10217C>T (TTN-AS1)
XM_011511729.1:c.89419G>A (TTN) XP_011510031.1:p.Glu29807Lys
XM_011511730.1:c.63313G>A (TTN) XP_011510032.1:p.Glu21105Lys
XM_011511731.1:c.63172G>A (TTN) XP_011510033.1:p.Glu21058Lys
XM_017004819.1:c.89215G>A (TTN) XP_016860308.1:p.Glu29739Lys
XM_017004820.1:c.84613G>A (TTN) XP_016860309.1:p.Glu28205Lys
XM_017004821.1:c.84610G>A (TTN) XP_016860310.1:p.Glu28204Lys
XM_017004822.1:c.81652G>A (TTN) XP_016860311.1:p.Glu27218Lys
XM_017004823.1:c.63268G>A (TTN) XP_016860312.1:p.Glu21090Lys
XM_024453094.1:c.84763G>A (TTN) XP_024308862.1:p.Glu28255Lys
XM_024453095.1:c.84760G>A (TTN) XP_024308863.1:p.Glu28254Lys
XM_024453096.1:c.84193G>A (TTN) XP_024308864.1:p.Glu28065Lys
XM_024453097.1:c.81535G>A (TTN) XP_024308865.1:p.Glu27179Lys
XM_024453098.1:c.81454G>A (TTN) XP_024308866.1:p.Glu27152Lys
XM_024453099.1:c.63217G>A (TTN) XP_024308867.1:p.Glu21073Lys
XM_024453100.1:c.53071G>A (TTN) XP_024308868.1:p.Glu17691Lys