Canonical Allele Identifier: CA1987309
Community Standard Title: NM_001267550.2(TTN):c.93371A>T (p.Asp31124Val)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178548255T>A , CM000664.2:g.178548255T>A GRCh38
NC_000002.11:g.179412982T>A , CM000664.1:g.179412982T>A GRCh37
NC_000002.10:g.179121228T>A NCBI36
NG_011618.3:g.287548A>T , LRG_391:g.287548A>T
NG_051363.1:g.30429T>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.93371A>T (TTN) MANE Select NP_001254479.2:p.Asp31124Val
ENST00000589042.5:c.93371A>T (TTN) MANE Select ENSP00000467141.1:p.Asp31124Val
NM_001256850.1:c.88448A>T (TTN) NP_001243779.1:p.Asp29483Val
NM_003319.4:c.66176A>T (TTN) NP_003310.4:p.Asp22059Val
NM_133378.4:c.85667A>T (TTN) NP_596869.4:p.Asp28556Val
NM_133432.3:c.66551A>T (TTN) NP_597676.3:p.Asp22184Val
NM_133437.4:c.66752A>T (TTN) NP_597681.4:p.Asp22251Val
NR_038271.1:n.447-23045T>A (TTN-AS1)
NR_038272.1:n.2043+5894T>A (TTN-AS1)
ENST00000342175.10:c.66752A>T (TTN) ENSP00000340554.6:p.Asp22251Val
ENST00000342175.11:c.66752A>T (TTN) ENSP00000340554.6:p.Asp22251Val
ENST00000342992.10:c.85667A>T (TTN) ENSP00000343764.6:p.Asp28556Val
ENST00000342992.11:c.85667A>T (TTN) ENSP00000343764.6:p.Asp28556Val
ENST00000359218.10:c.66551A>T (TTN) ENSP00000352154.5:p.Asp22184Val
ENST00000359218.9:c.66551A>T (TTN) ENSP00000352154.5:p.Asp22184Val
ENST00000460472.6:c.66176A>T (TTN) ENSP00000434586.1:p.Asp22059Val
ENST00000591111.5:c.88448A>T (TTN) ENSP00000465570.1:p.Asp29483Val
ENST00000615779.4:c.88448A>T (TTN) ENSP00000483597.1:p.Asp29483Val
XM_011511729.1:c.92468A>T (TTN) XP_011510031.1:p.Asp30823Val
XM_011511730.1:c.66362A>T (TTN) XP_011510032.1:p.Asp22121Val
XM_011511731.1:c.66221A>T (TTN) XP_011510033.1:p.Asp22074Val
XM_017004819.1:c.92264A>T (TTN) XP_016860308.1:p.Asp30755Val
XM_017004820.1:c.87662A>T (TTN) XP_016860309.1:p.Asp29221Val
XM_017004821.1:c.87659A>T (TTN) XP_016860310.1:p.Asp29220Val
XM_017004822.1:c.84701A>T (TTN) XP_016860311.1:p.Asp28234Val
XM_017004823.1:c.66317A>T (TTN) XP_016860312.1:p.Asp22106Val
XM_024453094.1:c.87812A>T (TTN) XP_024308862.1:p.Asp29271Val
XM_024453095.1:c.87809A>T (TTN) XP_024308863.1:p.Asp29270Val
XM_024453096.1:c.87242A>T (TTN) XP_024308864.1:p.Asp29081Val
XM_024453097.1:c.84584A>T (TTN) XP_024308865.1:p.Asp28195Val
XM_024453098.1:c.84503A>T (TTN) XP_024308866.1:p.Asp28168Val
XM_024453099.1:c.66266A>T (TTN) XP_024308867.1:p.Asp22089Val
XM_024453100.1:c.56120A>T (TTN) XP_024308868.1:p.Asp18707Val