Canonical Allele Identifier: CA349411407

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532058G>T , CM000664.2:g.178532058G>T GRCh38
NC_000002.11:g.179396785G>T , CM000664.1:g.179396785G>T GRCh37
NC_000002.10:g.179105031G>T NCBI36
NG_011618.3:g.303745C>A , LRG_391:g.303745C>A
NG_051363.1:g.14232G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96853C>A (TTN) ENSP00000343764.6:p.Pro32285Thr
ENST00000342175.11:c.77938C>A (TTN) ENSP00000340554.6:p.Pro25980Thr
ENST00000359218.10:c.77737C>A (TTN) ENSP00000352154.5:p.Pro25913Thr
ENST00000342175.10:c.77938C>A (TTN) ENSP00000340554.6:p.Pro25980Thr
ENST00000342992.10:c.96853C>A (TTN) ENSP00000343764.6:p.Pro32285Thr
ENST00000359218.9:c.77737C>A (TTN) ENSP00000352154.5:p.Pro25913Thr
ENST00000460472.6:c.77362C>A (TTN) ENSP00000434586.1:p.Pro25788Thr
ENST00000589042.5:c.104557C>A (TTN) MANE Select ENSP00000467141.1:p.Pro34853Thr
ENST00000591111.5:c.99634C>A (TTN) ENSP00000465570.1:p.Pro33212Thr
ENST00000615779.4:c.99634C>A (TTN) ENSP00000483597.1:p.Pro33212Thr
NM_001256850.1:c.99634C>A (TTN) NP_001243779.1:p.Pro33212Thr
NM_001267550.2:c.104557C>A (TTN) MANE Select NP_001254479.2:p.Pro34853Thr
NM_003319.4:c.77362C>A (TTN) NP_003310.4:p.Pro25788Thr
NM_133378.4:c.96853C>A (TTN) NP_596869.4:p.Pro32285Thr
NM_133432.3:c.77737C>A (TTN) NP_597676.3:p.Pro25913Thr
NM_133437.4:c.77938C>A (TTN) NP_597681.4:p.Pro25980Thr
NR_038271.1:n.446+8422G>T (TTN-AS1)
NR_038272.1:n.220-3674G>T (TTN-AS1)
XM_011511729.1:c.103654C>A (TTN) XP_011510031.1:p.Pro34552Thr
XM_011511730.1:c.77548C>A (TTN) XP_011510032.1:p.Pro25850Thr
XM_011511731.1:c.77407C>A (TTN) XP_011510033.1:p.Pro25803Thr
XM_017004819.1:c.103450C>A (TTN) XP_016860308.1:p.Pro34484Thr
XM_017004820.1:c.98848C>A (TTN) XP_016860309.1:p.Pro32950Thr
XM_017004821.1:c.98845C>A (TTN) XP_016860310.1:p.Pro32949Thr
XM_017004822.1:c.95887C>A (TTN) XP_016860311.1:p.Pro31963Thr
XM_017004823.1:c.77503C>A (TTN) XP_016860312.1:p.Pro25835Thr
XM_024453094.1:c.98998C>A (TTN) XP_024308862.1:p.Pro33000Thr
XM_024453095.1:c.98995C>A (TTN) XP_024308863.1:p.Pro32999Thr
XM_024453096.1:c.98428C>A (TTN) XP_024308864.1:p.Pro32810Thr
XM_024453097.1:c.95770C>A (TTN) XP_024308865.1:p.Pro31924Thr
XM_024453098.1:c.95689C>A (TTN) XP_024308866.1:p.Pro31897Thr
XM_024453099.1:c.77452C>A (TTN) XP_024308867.1:p.Pro25818Thr
XM_024453100.1:c.67306C>A (TTN) XP_024308868.1:p.Pro22436Thr