Canonical Allele Identifier: CA349596376
Community Standard Title: NM_001267550.2(TTN):c.79523G>A (p.Trp26508Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178566609C>T , CM000664.2:g.178566609C>T GRCh38
NC_000002.11:g.179431336C>T , CM000664.1:g.179431336C>T GRCh37
NC_000002.10:g.179139582C>T NCBI36
NG_011618.3:g.269194G>A , LRG_391:g.269194G>A
NG_051363.1:g.48783C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.79523G>A (TTN) MANE Select NP_001254479.2:p.Trp26508Ter
ENST00000589042.5:c.79523G>A (TTN) MANE Select ENSP00000467141.1:p.Trp26508Ter
NM_001256850.1:c.74600G>A (TTN) NP_001243779.1:p.Trp24867Ter
NM_003319.4:c.52328G>A (TTN) NP_003310.4:p.Trp17443Ter
NM_133378.4:c.71819G>A (TTN) NP_596869.4:p.Trp23940Ter
NM_133432.3:c.52703G>A (TTN) NP_597676.3:p.Trp17568Ter
NM_133437.4:c.52904G>A (TTN) NP_597681.4:p.Trp17635Ter
NR_038271.1:n.447-4691C>T (TTN-AS1)
NR_038272.1:n.2044-15963C>T (TTN-AS1)
ENST00000342175.10:c.52904G>A (TTN) ENSP00000340554.6:p.Trp17635Ter
ENST00000342175.11:c.52904G>A (TTN) ENSP00000340554.6:p.Trp17635Ter
ENST00000342992.10:c.71819G>A (TTN) ENSP00000343764.6:p.Trp23940Ter
ENST00000342992.11:c.71819G>A (TTN) ENSP00000343764.6:p.Trp23940Ter
ENST00000359218.10:c.52703G>A (TTN) ENSP00000352154.5:p.Trp17568Ter
ENST00000359218.9:c.52703G>A (TTN) ENSP00000352154.5:p.Trp17568Ter
ENST00000460472.6:c.52328G>A (TTN) ENSP00000434586.1:p.Trp17443Ter
ENST00000591111.5:c.74600G>A (TTN) ENSP00000465570.1:p.Trp24867Ter
ENST00000615779.4:c.74600G>A (TTN) ENSP00000483597.1:p.Trp24867Ter
XM_011511729.1:c.78620G>A (TTN) XP_011510031.1:p.Trp26207Ter
XM_011511730.1:c.52514G>A (TTN) XP_011510032.1:p.Trp17505Ter
XM_011511731.1:c.52373G>A (TTN) XP_011510033.1:p.Trp17458Ter
XM_017004819.1:c.78416G>A (TTN) XP_016860308.1:p.Trp26139Ter
XM_017004820.1:c.73814G>A (TTN) XP_016860309.1:p.Trp24605Ter
XM_017004821.1:c.73811G>A (TTN) XP_016860310.1:p.Trp24604Ter
XM_017004822.1:c.70853G>A (TTN) XP_016860311.1:p.Trp23618Ter
XM_017004823.1:c.52469G>A (TTN) XP_016860312.1:p.Trp17490Ter
XM_024453094.1:c.73964G>A (TTN) XP_024308862.1:p.Trp24655Ter
XM_024453095.1:c.73961G>A (TTN) XP_024308863.1:p.Trp24654Ter
XM_024453096.1:c.73394G>A (TTN) XP_024308864.1:p.Trp24465Ter
XM_024453097.1:c.70736G>A (TTN) XP_024308865.1:p.Trp23579Ter
XM_024453098.1:c.70655G>A (TTN) XP_024308866.1:p.Trp23552Ter
XM_024453099.1:c.52418G>A (TTN) XP_024308867.1:p.Trp17473Ter
XM_024453100.1:c.42272G>A (TTN) XP_024308868.1:p.Trp14091Ter