Canonical Allele Identifier: CA349603262
Community Standard Title: NM_001267550.2(TTN):c.78326G>A (p.Trp26109Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178567806C>T , CM000664.2:g.178567806C>T GRCh38
NC_000002.11:g.179432533C>T , CM000664.1:g.179432533C>T GRCh37
NC_000002.10:g.179140779C>T NCBI36
NG_011618.3:g.267997G>A , LRG_391:g.267997G>A
NG_051363.1:g.49980C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.78326G>A (TTN) MANE Select NP_001254479.2:p.Trp26109Ter
ENST00000589042.5:c.78326G>A (TTN) MANE Select ENSP00000467141.1:p.Trp26109Ter
NM_001256850.1:c.73403G>A (TTN) NP_001243779.1:p.Trp24468Ter
NM_003319.4:c.51131G>A (TTN) NP_003310.4:p.Trp17044Ter
NM_133378.4:c.70622G>A (TTN) NP_596869.4:p.Trp23541Ter
NM_133432.3:c.51506G>A (TTN) NP_597676.3:p.Trp17169Ter
NM_133437.4:c.51707G>A (TTN) NP_597681.4:p.Trp17236Ter
NR_038271.1:n.447-3494C>T (TTN-AS1)
NR_038272.1:n.2044-14766C>T (TTN-AS1)
ENST00000342175.10:c.51707G>A (TTN) ENSP00000340554.6:p.Trp17236Ter
ENST00000342175.11:c.51707G>A (TTN) ENSP00000340554.6:p.Trp17236Ter
ENST00000342992.10:c.70622G>A (TTN) ENSP00000343764.6:p.Trp23541Ter
ENST00000342992.11:c.70622G>A (TTN) ENSP00000343764.6:p.Trp23541Ter
ENST00000359218.10:c.51506G>A (TTN) ENSP00000352154.5:p.Trp17169Ter
ENST00000359218.9:c.51506G>A (TTN) ENSP00000352154.5:p.Trp17169Ter
ENST00000460472.6:c.51131G>A (TTN) ENSP00000434586.1:p.Trp17044Ter
ENST00000591111.5:c.73403G>A (TTN) ENSP00000465570.1:p.Trp24468Ter
ENST00000615779.4:c.73403G>A (TTN) ENSP00000483597.1:p.Trp24468Ter
XM_011511729.1:c.77423G>A (TTN) XP_011510031.1:p.Trp25808Ter
XM_011511730.1:c.51317G>A (TTN) XP_011510032.1:p.Trp17106Ter
XM_011511731.1:c.51176G>A (TTN) XP_011510033.1:p.Trp17059Ter
XM_017004819.1:c.77219G>A (TTN) XP_016860308.1:p.Trp25740Ter
XM_017004820.1:c.72617G>A (TTN) XP_016860309.1:p.Trp24206Ter
XM_017004821.1:c.72614G>A (TTN) XP_016860310.1:p.Trp24205Ter
XM_017004822.1:c.69656G>A (TTN) XP_016860311.1:p.Trp23219Ter
XM_017004823.1:c.51272G>A (TTN) XP_016860312.1:p.Trp17091Ter
XM_024453094.1:c.72767G>A (TTN) XP_024308862.1:p.Trp24256Ter
XM_024453095.1:c.72764G>A (TTN) XP_024308863.1:p.Trp24255Ter
XM_024453096.1:c.72197G>A (TTN) XP_024308864.1:p.Trp24066Ter
XM_024453097.1:c.69539G>A (TTN) XP_024308865.1:p.Trp23180Ter
XM_024453098.1:c.69458G>A (TTN) XP_024308866.1:p.Trp23153Ter
XM_024453099.1:c.51221G>A (TTN) XP_024308867.1:p.Trp17074Ter
XM_024453100.1:c.41075G>A (TTN) XP_024308868.1:p.Trp13692Ter