Canonical Allele Identifier: CA349544903

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178559839T>G , CM000664.2:g.178559839T>G GRCh38
NC_000002.11:g.179424566T>G , CM000664.1:g.179424566T>G GRCh37
NC_000002.10:g.179132812T>G NCBI36
NG_011618.3:g.275964A>C , LRG_391:g.275964A>C
NG_051363.1:g.42013T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.78589A>C (TTN) ENSP00000343764.6:p.Ile26197Leu
ENST00000342175.11:c.59674A>C (TTN) ENSP00000340554.6:p.Ile19892Leu
ENST00000359218.10:c.59473A>C (TTN) ENSP00000352154.5:p.Ile19825Leu
ENST00000342175.10:c.59674A>C (TTN) ENSP00000340554.6:p.Ile19892Leu
ENST00000342992.10:c.78589A>C (TTN) ENSP00000343764.6:p.Ile26197Leu
ENST00000359218.9:c.59473A>C (TTN) ENSP00000352154.5:p.Ile19825Leu
ENST00000460472.6:c.59098A>C (TTN) ENSP00000434586.1:p.Ile19700Leu
ENST00000589042.5:c.86293A>C (TTN) MANE Select ENSP00000467141.1:p.Ile28765Leu
ENST00000591111.5:c.81370A>C (TTN) ENSP00000465570.1:p.Ile27124Leu
ENST00000615779.4:c.81370A>C (TTN) ENSP00000483597.1:p.Ile27124Leu
NM_001256850.1:c.81370A>C (TTN) NP_001243779.1:p.Ile27124Leu
NM_001267550.2:c.86293A>C (TTN) MANE Select NP_001254479.2:p.Ile28765Leu
NM_003319.4:c.59098A>C (TTN) NP_003310.4:p.Ile19700Leu
NM_133378.4:c.78589A>C (TTN) NP_596869.4:p.Ile26197Leu
NM_133432.3:c.59473A>C (TTN) NP_597676.3:p.Ile19825Leu
NM_133437.4:c.59674A>C (TTN) NP_597681.4:p.Ile19892Leu
NR_038271.1:n.447-11461T>G (TTN-AS1)
NR_038272.1:n.2043+17478T>G (TTN-AS1)
XM_011511729.1:c.85390A>C (TTN) XP_011510031.1:p.Ile28464Leu
XM_011511730.1:c.59284A>C (TTN) XP_011510032.1:p.Ile19762Leu
XM_011511731.1:c.59143A>C (TTN) XP_011510033.1:p.Ile19715Leu
XM_017004819.1:c.85186A>C (TTN) XP_016860308.1:p.Ile28396Leu
XM_017004820.1:c.80584A>C (TTN) XP_016860309.1:p.Ile26862Leu
XM_017004821.1:c.80581A>C (TTN) XP_016860310.1:p.Ile26861Leu
XM_017004822.1:c.77623A>C (TTN) XP_016860311.1:p.Ile25875Leu
XM_017004823.1:c.59239A>C (TTN) XP_016860312.1:p.Ile19747Leu
XM_024453094.1:c.80734A>C (TTN) XP_024308862.1:p.Ile26912Leu
XM_024453095.1:c.80731A>C (TTN) XP_024308863.1:p.Ile26911Leu
XM_024453096.1:c.80164A>C (TTN) XP_024308864.1:p.Ile26722Leu
XM_024453097.1:c.77506A>C (TTN) XP_024308865.1:p.Ile25836Leu
XM_024453098.1:c.77425A>C (TTN) XP_024308866.1:p.Ile25809Leu
XM_024453099.1:c.59188A>C (TTN) XP_024308867.1:p.Ile19730Leu
XM_024453100.1:c.49042A>C (TTN) XP_024308868.1:p.Ile16348Leu