Canonical Allele Identifier: CA349584078
Community Standard Title: NM_001267550.2(TTN):c.81059G>A (p.Trp27020Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178565073C>T , CM000664.2:g.178565073C>T GRCh38
NC_000002.11:g.179429800C>T , CM000664.1:g.179429800C>T GRCh37
NC_000002.10:g.179138046C>T NCBI36
NG_011618.3:g.270730G>A , LRG_391:g.270730G>A
NG_051363.1:g.47247C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.81059G>A (TTN) MANE Select NP_001254479.2:p.Trp27020Ter
ENST00000589042.5:c.81059G>A (TTN) MANE Select ENSP00000467141.1:p.Trp27020Ter
NM_001256850.1:c.76136G>A (TTN) NP_001243779.1:p.Trp25379Ter
NM_003319.4:c.53864G>A (TTN) NP_003310.4:p.Trp17955Ter
NM_133378.4:c.73355G>A (TTN) NP_596869.4:p.Trp24452Ter
NM_133432.3:c.54239G>A (TTN) NP_597676.3:p.Trp18080Ter
NM_133437.4:c.54440G>A (TTN) NP_597681.4:p.Trp18147Ter
NR_038271.1:n.447-6227C>T (TTN-AS1)
NR_038272.1:n.2044-17499C>T (TTN-AS1)
ENST00000342175.10:c.54440G>A (TTN) ENSP00000340554.6:p.Trp18147Ter
ENST00000342175.11:c.54440G>A (TTN) ENSP00000340554.6:p.Trp18147Ter
ENST00000342992.10:c.73355G>A (TTN) ENSP00000343764.6:p.Trp24452Ter
ENST00000342992.11:c.73355G>A (TTN) ENSP00000343764.6:p.Trp24452Ter
ENST00000359218.10:c.54239G>A (TTN) ENSP00000352154.5:p.Trp18080Ter
ENST00000359218.9:c.54239G>A (TTN) ENSP00000352154.5:p.Trp18080Ter
ENST00000460472.6:c.53864G>A (TTN) ENSP00000434586.1:p.Trp17955Ter
ENST00000591111.5:c.76136G>A (TTN) ENSP00000465570.1:p.Trp25379Ter
ENST00000615779.4:c.76136G>A (TTN) ENSP00000483597.1:p.Trp25379Ter
XM_011511729.1:c.80156G>A (TTN) XP_011510031.1:p.Trp26719Ter
XM_011511730.1:c.54050G>A (TTN) XP_011510032.1:p.Trp18017Ter
XM_011511731.1:c.53909G>A (TTN) XP_011510033.1:p.Trp17970Ter
XM_017004819.1:c.79952G>A (TTN) XP_016860308.1:p.Trp26651Ter
XM_017004820.1:c.75350G>A (TTN) XP_016860309.1:p.Trp25117Ter
XM_017004821.1:c.75347G>A (TTN) XP_016860310.1:p.Trp25116Ter
XM_017004822.1:c.72389G>A (TTN) XP_016860311.1:p.Trp24130Ter
XM_017004823.1:c.54005G>A (TTN) XP_016860312.1:p.Trp18002Ter
XM_024453094.1:c.75500G>A (TTN) XP_024308862.1:p.Trp25167Ter
XM_024453095.1:c.75497G>A (TTN) XP_024308863.1:p.Trp25166Ter
XM_024453096.1:c.74930G>A (TTN) XP_024308864.1:p.Trp24977Ter
XM_024453097.1:c.72272G>A (TTN) XP_024308865.1:p.Trp24091Ter
XM_024453098.1:c.72191G>A (TTN) XP_024308866.1:p.Trp24064Ter
XM_024453099.1:c.53954G>A (TTN) XP_024308867.1:p.Trp17985Ter
XM_024453100.1:c.43808G>A (TTN) XP_024308868.1:p.Trp14603Ter