Canonical Allele Identifier: CA349471580

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178546769A>C , CM000664.2:g.178546769A>C GRCh38
NC_000002.11:g.179411496A>C , CM000664.1:g.179411496A>C GRCh37
NC_000002.10:g.179119742A>C NCBI36
NG_011618.3:g.289034T>G , LRG_391:g.289034T>G
NG_051363.1:g.28943A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.86955T>G (TTN) ENSP00000343764.6:p.Asp28985Glu
ENST00000342175.11:c.68040T>G (TTN) ENSP00000340554.6:p.Asp22680Glu
ENST00000359218.10:c.67839T>G (TTN) ENSP00000352154.5:p.Asp22613Glu
ENST00000342175.10:c.68040T>G (TTN) ENSP00000340554.6:p.Asp22680Glu
ENST00000342992.10:c.86955T>G (TTN) ENSP00000343764.6:p.Asp28985Glu
ENST00000359218.9:c.67839T>G (TTN) ENSP00000352154.5:p.Asp22613Glu
ENST00000460472.6:c.67464T>G (TTN) ENSP00000434586.1:p.Asp22488Glu
ENST00000589042.5:c.94659T>G (TTN) MANE Select ENSP00000467141.1:p.Asp31553Glu
ENST00000591111.5:c.89736T>G (TTN) ENSP00000465570.1:p.Asp29912Glu
ENST00000615779.4:c.89736T>G (TTN) ENSP00000483597.1:p.Asp29912Glu
NM_001256850.1:c.89736T>G (TTN) NP_001243779.1:p.Asp29912Glu
NM_001267550.2:c.94659T>G (TTN) MANE Select NP_001254479.2:p.Asp31553Glu
NM_003319.4:c.67464T>G (TTN) NP_003310.4:p.Asp22488Glu
NM_133378.4:c.86955T>G (TTN) NP_596869.4:p.Asp28985Glu
NM_133432.3:c.67839T>G (TTN) NP_597676.3:p.Asp22613Glu
NM_133437.4:c.68040T>G (TTN) NP_597681.4:p.Asp22680Glu
NR_038271.1:n.446+23133A>C (TTN-AS1)
NR_038272.1:n.2043+4408A>C (TTN-AS1)
XM_011511729.1:c.93756T>G (TTN) XP_011510031.1:p.Asp31252Glu
XM_011511730.1:c.67650T>G (TTN) XP_011510032.1:p.Asp22550Glu
XM_011511731.1:c.67509T>G (TTN) XP_011510033.1:p.Asp22503Glu
XM_017004819.1:c.93552T>G (TTN) XP_016860308.1:p.Asp31184Glu
XM_017004820.1:c.88950T>G (TTN) XP_016860309.1:p.Asp29650Glu
XM_017004821.1:c.88947T>G (TTN) XP_016860310.1:p.Asp29649Glu
XM_017004822.1:c.85989T>G (TTN) XP_016860311.1:p.Asp28663Glu
XM_017004823.1:c.67605T>G (TTN) XP_016860312.1:p.Asp22535Glu
XM_024453094.1:c.89100T>G (TTN) XP_024308862.1:p.Asp29700Glu
XM_024453095.1:c.89097T>G (TTN) XP_024308863.1:p.Asp29699Glu
XM_024453096.1:c.88530T>G (TTN) XP_024308864.1:p.Asp29510Glu
XM_024453097.1:c.85872T>G (TTN) XP_024308865.1:p.Asp28624Glu
XM_024453098.1:c.85791T>G (TTN) XP_024308866.1:p.Asp28597Glu
XM_024453099.1:c.67554T>G (TTN) XP_024308867.1:p.Asp22518Glu
XM_024453100.1:c.57408T>G (TTN) XP_024308868.1:p.Asp19136Glu