Canonical Allele Identifier: CA349470172

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178546623G>A , CM000664.2:g.178546623G>A GRCh38
NC_000002.11:g.179411350G>A , CM000664.1:g.179411350G>A GRCh37
NC_000002.10:g.179119596G>A NCBI36
NG_011618.3:g.289180C>T , LRG_391:g.289180C>T
NG_051363.1:g.28797G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.87101C>T (TTN) ENSP00000343764.6:p.Pro29034Leu
ENST00000342175.11:c.68186C>T (TTN) ENSP00000340554.6:p.Pro22729Leu
ENST00000359218.10:c.67985C>T (TTN) ENSP00000352154.5:p.Pro22662Leu
ENST00000342175.10:c.68186C>T (TTN) ENSP00000340554.6:p.Pro22729Leu
ENST00000342992.10:c.87101C>T (TTN) ENSP00000343764.6:p.Pro29034Leu
ENST00000359218.9:c.67985C>T (TTN) ENSP00000352154.5:p.Pro22662Leu
ENST00000460472.6:c.67610C>T (TTN) ENSP00000434586.1:p.Pro22537Leu
ENST00000589042.5:c.94805C>T (TTN) MANE Select ENSP00000467141.1:p.Pro31602Leu
ENST00000591111.5:c.89882C>T (TTN) ENSP00000465570.1:p.Pro29961Leu
ENST00000615779.4:c.89882C>T (TTN) ENSP00000483597.1:p.Pro29961Leu
NM_001256850.1:c.89882C>T (TTN) NP_001243779.1:p.Pro29961Leu
NM_001267550.2:c.94805C>T (TTN) MANE Select NP_001254479.2:p.Pro31602Leu
NM_003319.4:c.67610C>T (TTN) NP_003310.4:p.Pro22537Leu
NM_133378.4:c.87101C>T (TTN) NP_596869.4:p.Pro29034Leu
NM_133432.3:c.67985C>T (TTN) NP_597676.3:p.Pro22662Leu
NM_133437.4:c.68186C>T (TTN) NP_597681.4:p.Pro22729Leu
NR_038271.1:n.446+22987G>A (TTN-AS1)
NR_038272.1:n.2043+4262G>A (TTN-AS1)
XM_011511729.1:c.93902C>T (TTN) XP_011510031.1:p.Pro31301Leu
XM_011511730.1:c.67796C>T (TTN) XP_011510032.1:p.Pro22599Leu
XM_011511731.1:c.67655C>T (TTN) XP_011510033.1:p.Pro22552Leu
XM_017004819.1:c.93698C>T (TTN) XP_016860308.1:p.Pro31233Leu
XM_017004820.1:c.89096C>T (TTN) XP_016860309.1:p.Pro29699Leu
XM_017004821.1:c.89093C>T (TTN) XP_016860310.1:p.Pro29698Leu
XM_017004822.1:c.86135C>T (TTN) XP_016860311.1:p.Pro28712Leu
XM_017004823.1:c.67751C>T (TTN) XP_016860312.1:p.Pro22584Leu
XM_024453094.1:c.89246C>T (TTN) XP_024308862.1:p.Pro29749Leu
XM_024453095.1:c.89243C>T (TTN) XP_024308863.1:p.Pro29748Leu
XM_024453096.1:c.88676C>T (TTN) XP_024308864.1:p.Pro29559Leu
XM_024453097.1:c.86018C>T (TTN) XP_024308865.1:p.Pro28673Leu
XM_024453098.1:c.85937C>T (TTN) XP_024308866.1:p.Pro28646Leu
XM_024453099.1:c.67700C>T (TTN) XP_024308867.1:p.Pro22567Leu
XM_024453100.1:c.57554C>T (TTN) XP_024308868.1:p.Pro19185Leu