Canonical Allele Identifier: CA349618604

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178618191T>G , CM000664.2:g.178618191T>G GRCh38
NC_000002.11:g.179482918T>G , CM000664.1:g.179482918T>G GRCh37
NC_000002.10:g.179191163T>G NCBI36
NG_011618.3:g.217612A>C , LRG_391:g.217612A>C
NG_051363.1:g.100365T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.39563A>C (TTN) ENSP00000343764.6:p.Tyr13188Ser
ENST00000342175.11:c.20648A>C (TTN) ENSP00000340554.6:p.Tyr6883Ser
ENST00000359218.10:c.20447A>C (TTN) ENSP00000352154.5:p.Tyr6816Ser
ENST00000342175.10:c.20648A>C (TTN) ENSP00000340554.6:p.Tyr6883Ser
ENST00000342992.10:c.39563A>C (TTN) ENSP00000343764.6:p.Tyr13188Ser
ENST00000359218.9:c.20447A>C (TTN) ENSP00000352154.5:p.Tyr6816Ser
ENST00000460472.6:c.20072A>C (TTN) ENSP00000434586.1:p.Tyr6691Ser
ENST00000589042.5:c.47267A>C (TTN) MANE Select ENSP00000467141.1:p.Tyr15756Ser
ENST00000591111.5:c.42344A>C (TTN) ENSP00000465570.1:p.Tyr14115Ser
ENST00000615779.4:c.42344A>C (TTN) ENSP00000483597.1:p.Tyr14115Ser
NM_001256850.1:c.42344A>C (TTN) NP_001243779.1:p.Tyr14115Ser
NM_001267550.2:c.47267A>C (TTN) MANE Select NP_001254479.2:p.Tyr15756Ser
NM_003319.4:c.20072A>C (TTN) NP_003310.4:p.Tyr6691Ser
NM_133378.4:c.39563A>C (TTN) NP_596869.4:p.Tyr13188Ser
NM_133432.3:c.20447A>C (TTN) NP_597676.3:p.Tyr6816Ser
NM_133437.4:c.20648A>C (TTN) NP_597681.4:p.Tyr6883Ser
NR_038271.1:n.1605-1562T>G (TTN-AS1)
XM_011511729.1:c.46364A>C (TTN) XP_011510031.1:p.Tyr15455Ser
XM_011511730.1:c.20258A>C (TTN) XP_011510032.1:p.Tyr6753Ser
XM_011511731.1:c.20117A>C (TTN) XP_011510033.1:p.Tyr6706Ser
XM_017004819.1:c.46160A>C (TTN) XP_016860308.1:p.Tyr15387Ser
XM_017004820.1:c.41558A>C (TTN) XP_016860309.1:p.Tyr13853Ser
XM_017004821.1:c.41555A>C (TTN) XP_016860310.1:p.Tyr13852Ser
XM_017004822.1:c.38597A>C (TTN) XP_016860311.1:p.Tyr12866Ser
XM_017004823.1:c.20213A>C (TTN) XP_016860312.1:p.Tyr6738Ser
XM_024453094.1:c.41708A>C (TTN) XP_024308862.1:p.Tyr13903Ser
XM_024453095.1:c.41705A>C (TTN) XP_024308863.1:p.Tyr13902Ser
XM_024453096.1:c.41138A>C (TTN) XP_024308864.1:p.Tyr13713Ser
XM_024453097.1:c.38480A>C (TTN) XP_024308865.1:p.Tyr12827Ser
XM_024453098.1:c.38399A>C (TTN) XP_024308866.1:p.Tyr12800Ser
XM_024453099.1:c.20162A>C (TTN) XP_024308867.1:p.Tyr6721Ser
XM_024453100.1:c.10016A>C (TTN) XP_024308868.1:p.Tyr3339Ser