Canonical Allele Identifier: CA349643663
Community Standard Title: NM_001267550.2(TTN):c.73148C>A (p.Ser24383Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178572984G>T , CM000664.2:g.178572984G>T GRCh38
NC_000002.11:g.179437711G>T , CM000664.1:g.179437711G>T GRCh37
NC_000002.10:g.179145957G>T NCBI36
NG_011618.3:g.262819C>A , LRG_391:g.262819C>A
NG_051363.1:g.55158G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.73148C>A (TTN) MANE Select NP_001254479.2:p.Ser24383Ter
ENST00000589042.5:c.73148C>A (TTN) MANE Select ENSP00000467141.1:p.Ser24383Ter
NM_001256850.1:c.68225C>A (TTN) NP_001243779.1:p.Ser22742Ter
NM_003319.4:c.45953C>A (TTN) NP_003310.4:p.Ser15318Ter
NM_133378.4:c.65444C>A (TTN) NP_596869.4:p.Ser21815Ter
NM_133432.3:c.46328C>A (TTN) NP_597676.3:p.Ser15443Ter
NM_133437.4:c.46529C>A (TTN) NP_597681.4:p.Ser15510Ter
NR_038271.1:n.596+1535G>T (TTN-AS1)
NR_038272.1:n.2044-9588G>T (TTN-AS1)
ENST00000342175.10:c.46529C>A (TTN) ENSP00000340554.6:p.Ser15510Ter
ENST00000342175.11:c.46529C>A (TTN) ENSP00000340554.6:p.Ser15510Ter
ENST00000342992.10:c.65444C>A (TTN) ENSP00000343764.6:p.Ser21815Ter
ENST00000342992.11:c.65444C>A (TTN) ENSP00000343764.6:p.Ser21815Ter
ENST00000359218.10:c.46328C>A (TTN) ENSP00000352154.5:p.Ser15443Ter
ENST00000359218.9:c.46328C>A (TTN) ENSP00000352154.5:p.Ser15443Ter
ENST00000460472.6:c.45953C>A (TTN) ENSP00000434586.1:p.Ser15318Ter
ENST00000591111.5:c.68225C>A (TTN) ENSP00000465570.1:p.Ser22742Ter
ENST00000615779.4:c.68225C>A (TTN) ENSP00000483597.1:p.Ser22742Ter
XM_011511729.1:c.72245C>A (TTN) XP_011510031.1:p.Ser24082Ter
XM_011511730.1:c.46139C>A (TTN) XP_011510032.1:p.Ser15380Ter
XM_011511731.1:c.45998C>A (TTN) XP_011510033.1:p.Ser15333Ter
XM_017004819.1:c.72041C>A (TTN) XP_016860308.1:p.Ser24014Ter
XM_017004820.1:c.67439C>A (TTN) XP_016860309.1:p.Ser22480Ter
XM_017004821.1:c.67436C>A (TTN) XP_016860310.1:p.Ser22479Ter
XM_017004822.1:c.64478C>A (TTN) XP_016860311.1:p.Ser21493Ter
XM_017004823.1:c.46094C>A (TTN) XP_016860312.1:p.Ser15365Ter
XM_024453094.1:c.67589C>A (TTN) XP_024308862.1:p.Ser22530Ter
XM_024453095.1:c.67586C>A (TTN) XP_024308863.1:p.Ser22529Ter
XM_024453096.1:c.67019C>A (TTN) XP_024308864.1:p.Ser22340Ter
XM_024453097.1:c.64361C>A (TTN) XP_024308865.1:p.Ser21454Ter
XM_024453098.1:c.64280C>A (TTN) XP_024308866.1:p.Ser21427Ter
XM_024453099.1:c.46043C>A (TTN) XP_024308867.1:p.Ser15348Ter
XM_024453100.1:c.35897C>A (TTN) XP_024308868.1:p.Ser11966Ter