Canonical Allele Identifier: CA349489040

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178548657T>G , CM000664.2:g.178548657T>G GRCh38
NC_000002.11:g.179413384T>G , CM000664.1:g.179413384T>G GRCh37
NC_000002.10:g.179121630T>G NCBI36
NG_011618.3:g.287146A>C , LRG_391:g.287146A>C
NG_051363.1:g.30831T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.85265A>C (TTN) ENSP00000343764.6:p.Asp28422Ala
ENST00000342175.11:c.66350A>C (TTN) ENSP00000340554.6:p.Asp22117Ala
ENST00000359218.10:c.66149A>C (TTN) ENSP00000352154.5:p.Asp22050Ala
ENST00000342175.10:c.66350A>C (TTN) ENSP00000340554.6:p.Asp22117Ala
ENST00000342992.10:c.85265A>C (TTN) ENSP00000343764.6:p.Asp28422Ala
ENST00000359218.9:c.66149A>C (TTN) ENSP00000352154.5:p.Asp22050Ala
ENST00000460472.6:c.65774A>C (TTN) ENSP00000434586.1:p.Asp21925Ala
ENST00000589042.5:c.92969A>C (TTN) MANE Select ENSP00000467141.1:p.Asp30990Ala
ENST00000591111.5:c.88046A>C (TTN) ENSP00000465570.1:p.Asp29349Ala
ENST00000615779.4:c.88046A>C (TTN) ENSP00000483597.1:p.Asp29349Ala
NM_001256850.1:c.88046A>C (TTN) NP_001243779.1:p.Asp29349Ala
NM_001267550.2:c.92969A>C (TTN) MANE Select NP_001254479.2:p.Asp30990Ala
NM_003319.4:c.65774A>C (TTN) NP_003310.4:p.Asp21925Ala
NM_133378.4:c.85265A>C (TTN) NP_596869.4:p.Asp28422Ala
NM_133432.3:c.66149A>C (TTN) NP_597676.3:p.Asp22050Ala
NM_133437.4:c.66350A>C (TTN) NP_597681.4:p.Asp22117Ala
NR_038271.1:n.447-22643T>G (TTN-AS1)
NR_038272.1:n.2043+6296T>G (TTN-AS1)
XM_011511729.1:c.92066A>C (TTN) XP_011510031.1:p.Asp30689Ala
XM_011511730.1:c.65960A>C (TTN) XP_011510032.1:p.Asp21987Ala
XM_011511731.1:c.65819A>C (TTN) XP_011510033.1:p.Asp21940Ala
XM_017004819.1:c.91862A>C (TTN) XP_016860308.1:p.Asp30621Ala
XM_017004820.1:c.87260A>C (TTN) XP_016860309.1:p.Asp29087Ala
XM_017004821.1:c.87257A>C (TTN) XP_016860310.1:p.Asp29086Ala
XM_017004822.1:c.84299A>C (TTN) XP_016860311.1:p.Asp28100Ala
XM_017004823.1:c.65915A>C (TTN) XP_016860312.1:p.Asp21972Ala
XM_024453094.1:c.87410A>C (TTN) XP_024308862.1:p.Asp29137Ala
XM_024453095.1:c.87407A>C (TTN) XP_024308863.1:p.Asp29136Ala
XM_024453096.1:c.86840A>C (TTN) XP_024308864.1:p.Asp28947Ala
XM_024453097.1:c.84182A>C (TTN) XP_024308865.1:p.Asp28061Ala
XM_024453098.1:c.84101A>C (TTN) XP_024308866.1:p.Asp28034Ala
XM_024453099.1:c.65864A>C (TTN) XP_024308867.1:p.Asp21955Ala
XM_024453100.1:c.55718A>C (TTN) XP_024308868.1:p.Asp18573Ala