Canonical Allele Identifier: CA349421618
Community Standard Title: NM_001267550.2(TTN):c.101129G>A (p.Trp33710Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178535486C>T , CM000664.2:g.178535486C>T GRCh38
NC_000002.11:g.179400213C>T , CM000664.1:g.179400213C>T GRCh37
NC_000002.10:g.179108459C>T NCBI36
NG_011618.3:g.300317G>A , LRG_391:g.300317G>A
NG_051363.1:g.17660C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.101129G>A (TTN) MANE Select NP_001254479.2:p.Trp33710Ter
ENST00000589042.5:c.101129G>A (TTN) MANE Select ENSP00000467141.1:p.Trp33710Ter
NM_001256850.1:c.96206G>A (TTN) NP_001243779.1:p.Trp32069Ter
NM_003319.4:c.73934G>A (TTN) NP_003310.4:p.Trp24645Ter
NM_133378.4:c.93425G>A (TTN) NP_596869.4:p.Trp31142Ter
NM_133432.3:c.74309G>A (TTN) NP_597676.3:p.Trp24770Ter
NM_133437.4:c.74510G>A (TTN) NP_597681.4:p.Trp24837Ter
NR_038271.1:n.446+11850C>T (TTN-AS1)
NR_038272.1:n.220-246C>T (TTN-AS1)
ENST00000342175.10:c.74510G>A (TTN) ENSP00000340554.6:p.Trp24837Ter
ENST00000342175.11:c.74510G>A (TTN) ENSP00000340554.6:p.Trp24837Ter
ENST00000342992.10:c.93425G>A (TTN) ENSP00000343764.6:p.Trp31142Ter
ENST00000342992.11:c.93425G>A (TTN) ENSP00000343764.6:p.Trp31142Ter
ENST00000359218.10:c.74309G>A (TTN) ENSP00000352154.5:p.Trp24770Ter
ENST00000359218.9:c.74309G>A (TTN) ENSP00000352154.5:p.Trp24770Ter
ENST00000460472.6:c.73934G>A (TTN) ENSP00000434586.1:p.Trp24645Ter
ENST00000591111.5:c.96206G>A (TTN) ENSP00000465570.1:p.Trp32069Ter
ENST00000615779.4:c.96206G>A (TTN) ENSP00000483597.1:p.Trp32069Ter
XM_011511729.1:c.100226G>A (TTN) XP_011510031.1:p.Trp33409Ter
XM_011511730.1:c.74120G>A (TTN) XP_011510032.1:p.Trp24707Ter
XM_011511731.1:c.73979G>A (TTN) XP_011510033.1:p.Trp24660Ter
XM_017004819.1:c.100022G>A (TTN) XP_016860308.1:p.Trp33341Ter
XM_017004820.1:c.95420G>A (TTN) XP_016860309.1:p.Trp31807Ter
XM_017004821.1:c.95417G>A (TTN) XP_016860310.1:p.Trp31806Ter
XM_017004822.1:c.92459G>A (TTN) XP_016860311.1:p.Trp30820Ter
XM_017004823.1:c.74075G>A (TTN) XP_016860312.1:p.Trp24692Ter
XM_024453094.1:c.95570G>A (TTN) XP_024308862.1:p.Trp31857Ter
XM_024453095.1:c.95567G>A (TTN) XP_024308863.1:p.Trp31856Ter
XM_024453096.1:c.95000G>A (TTN) XP_024308864.1:p.Trp31667Ter
XM_024453097.1:c.92342G>A (TTN) XP_024308865.1:p.Trp30781Ter
XM_024453098.1:c.92261G>A (TTN) XP_024308866.1:p.Trp30754Ter
XM_024453099.1:c.74024G>A (TTN) XP_024308867.1:p.Trp24675Ter
XM_024453100.1:c.63878G>A (TTN) XP_024308868.1:p.Trp21293Ter