Canonical Allele Identifier: CA349471207

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178546731T>G , CM000664.2:g.178546731T>G GRCh38
NC_000002.11:g.179411458T>G , CM000664.1:g.179411458T>G GRCh37
NC_000002.10:g.179119704T>G NCBI36
NG_011618.3:g.289072A>C , LRG_391:g.289072A>C
NG_051363.1:g.28905T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.86993A>C (TTN) ENSP00000343764.6:p.Asp28998Ala
ENST00000342175.11:c.68078A>C (TTN) ENSP00000340554.6:p.Asp22693Ala
ENST00000359218.10:c.67877A>C (TTN) ENSP00000352154.5:p.Asp22626Ala
ENST00000342175.10:c.68078A>C (TTN) ENSP00000340554.6:p.Asp22693Ala
ENST00000342992.10:c.86993A>C (TTN) ENSP00000343764.6:p.Asp28998Ala
ENST00000359218.9:c.67877A>C (TTN) ENSP00000352154.5:p.Asp22626Ala
ENST00000460472.6:c.67502A>C (TTN) ENSP00000434586.1:p.Asp22501Ala
ENST00000589042.5:c.94697A>C (TTN) MANE Select ENSP00000467141.1:p.Asp31566Ala
ENST00000591111.5:c.89774A>C (TTN) ENSP00000465570.1:p.Asp29925Ala
ENST00000615779.4:c.89774A>C (TTN) ENSP00000483597.1:p.Asp29925Ala
NM_001256850.1:c.89774A>C (TTN) NP_001243779.1:p.Asp29925Ala
NM_001267550.2:c.94697A>C (TTN) MANE Select NP_001254479.2:p.Asp31566Ala
NM_003319.4:c.67502A>C (TTN) NP_003310.4:p.Asp22501Ala
NM_133378.4:c.86993A>C (TTN) NP_596869.4:p.Asp28998Ala
NM_133432.3:c.67877A>C (TTN) NP_597676.3:p.Asp22626Ala
NM_133437.4:c.68078A>C (TTN) NP_597681.4:p.Asp22693Ala
NR_038271.1:n.446+23095T>G (TTN-AS1)
NR_038272.1:n.2043+4370T>G (TTN-AS1)
XM_011511729.1:c.93794A>C (TTN) XP_011510031.1:p.Asp31265Ala
XM_011511730.1:c.67688A>C (TTN) XP_011510032.1:p.Asp22563Ala
XM_011511731.1:c.67547A>C (TTN) XP_011510033.1:p.Asp22516Ala
XM_017004819.1:c.93590A>C (TTN) XP_016860308.1:p.Asp31197Ala
XM_017004820.1:c.88988A>C (TTN) XP_016860309.1:p.Asp29663Ala
XM_017004821.1:c.88985A>C (TTN) XP_016860310.1:p.Asp29662Ala
XM_017004822.1:c.86027A>C (TTN) XP_016860311.1:p.Asp28676Ala
XM_017004823.1:c.67643A>C (TTN) XP_016860312.1:p.Asp22548Ala
XM_024453094.1:c.89138A>C (TTN) XP_024308862.1:p.Asp29713Ala
XM_024453095.1:c.89135A>C (TTN) XP_024308863.1:p.Asp29712Ala
XM_024453096.1:c.88568A>C (TTN) XP_024308864.1:p.Asp29523Ala
XM_024453097.1:c.85910A>C (TTN) XP_024308865.1:p.Asp28637Ala
XM_024453098.1:c.85829A>C (TTN) XP_024308866.1:p.Asp28610Ala
XM_024453099.1:c.67592A>C (TTN) XP_024308867.1:p.Asp22531Ala
XM_024453100.1:c.57446A>C (TTN) XP_024308868.1:p.Asp19149Ala