Canonical Allele Identifier: CA349407139

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530564C>A , CM000664.2:g.178530564C>A GRCh38
NC_000002.11:g.179395291C>A , CM000664.1:g.179395291C>A GRCh37
NC_000002.10:g.179103537C>A NCBI36
NG_011618.3:g.305239G>T , LRG_391:g.305239G>T
NG_051363.1:g.12738C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98347G>T (TTN) ENSP00000343764.6:p.Glu32783Ter
ENST00000342175.11:c.79432G>T (TTN) ENSP00000340554.6:p.Glu26478Ter
ENST00000359218.10:c.79231G>T (TTN) ENSP00000352154.5:p.Glu26411Ter
ENST00000342175.10:c.79432G>T (TTN) ENSP00000340554.6:p.Glu26478Ter
ENST00000342992.10:c.98347G>T (TTN) ENSP00000343764.6:p.Glu32783Ter
ENST00000359218.9:c.79231G>T (TTN) ENSP00000352154.5:p.Glu26411Ter
ENST00000460472.6:c.78856G>T (TTN) ENSP00000434586.1:p.Glu26286Ter
ENST00000589042.5:c.106051G>T (TTN) MANE Select ENSP00000467141.1:p.Glu35351Ter
ENST00000591111.5:c.101128G>T (TTN) ENSP00000465570.1:p.Glu33710Ter
ENST00000615779.4:c.101128G>T (TTN) ENSP00000483597.1:p.Glu33710Ter
NM_001256850.1:c.101128G>T (TTN) NP_001243779.1:p.Glu33710Ter
NM_001267550.2:c.106051G>T (TTN) MANE Select NP_001254479.2:p.Glu35351Ter
NM_003319.4:c.78856G>T (TTN) NP_003310.4:p.Glu26286Ter
NM_133378.4:c.98347G>T (TTN) NP_596869.4:p.Glu32783Ter
NM_133432.3:c.79231G>T (TTN) NP_597676.3:p.Glu26411Ter
NM_133437.4:c.79432G>T (TTN) NP_597681.4:p.Glu26478Ter
NR_038271.1:n.446+6928C>A (TTN-AS1)
NR_038272.1:n.220-5168C>A (TTN-AS1)
XM_011511729.1:c.105148G>T (TTN) XP_011510031.1:p.Glu35050Ter
XM_011511730.1:c.79042G>T (TTN) XP_011510032.1:p.Glu26348Ter
XM_011511731.1:c.78901G>T (TTN) XP_011510033.1:p.Glu26301Ter
XM_017004819.1:c.104944G>T (TTN) XP_016860308.1:p.Glu34982Ter
XM_017004820.1:c.100342G>T (TTN) XP_016860309.1:p.Glu33448Ter
XM_017004821.1:c.100339G>T (TTN) XP_016860310.1:p.Glu33447Ter
XM_017004822.1:c.97381G>T (TTN) XP_016860311.1:p.Glu32461Ter
XM_017004823.1:c.78997G>T (TTN) XP_016860312.1:p.Glu26333Ter
XM_024453094.1:c.100492G>T (TTN) XP_024308862.1:p.Glu33498Ter
XM_024453095.1:c.100489G>T (TTN) XP_024308863.1:p.Glu33497Ter
XM_024453096.1:c.99922G>T (TTN) XP_024308864.1:p.Glu33308Ter
XM_024453097.1:c.97264G>T (TTN) XP_024308865.1:p.Glu32422Ter
XM_024453098.1:c.97183G>T (TTN) XP_024308866.1:p.Glu32395Ter
XM_024453099.1:c.78946G>T (TTN) XP_024308867.1:p.Glu26316Ter
XM_024453100.1:c.68800G>T (TTN) XP_024308868.1:p.Glu22934Ter