Canonical Allele Identifier: CA349637291
Community Standard Title: NM_001267550.2(TTN):c.73734G>A (p.Trp24578Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178572398C>T , CM000664.2:g.178572398C>T GRCh38
NC_000002.11:g.179437125C>T , CM000664.1:g.179437125C>T GRCh37
NC_000002.10:g.179145371C>T NCBI36
NG_011618.3:g.263405G>A , LRG_391:g.263405G>A
NG_051363.1:g.54572C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.73734G>A (TTN) MANE Select NP_001254479.2:p.Trp24578Ter
ENST00000589042.5:c.73734G>A (TTN) MANE Select ENSP00000467141.1:p.Trp24578Ter
NM_001256850.1:c.68811G>A (TTN) NP_001243779.1:p.Trp22937Ter
NM_003319.4:c.46539G>A (TTN) NP_003310.4:p.Trp15513Ter
NM_133378.4:c.66030G>A (TTN) NP_596869.4:p.Trp22010Ter
NM_133432.3:c.46914G>A (TTN) NP_597676.3:p.Trp15638Ter
NM_133437.4:c.47115G>A (TTN) NP_597681.4:p.Trp15705Ter
NR_038271.1:n.596+949C>T (TTN-AS1)
NR_038272.1:n.2044-10174C>T (TTN-AS1)
ENST00000342175.10:c.47115G>A (TTN) ENSP00000340554.6:p.Trp15705Ter
ENST00000342175.11:c.47115G>A (TTN) ENSP00000340554.6:p.Trp15705Ter
ENST00000342992.10:c.66030G>A (TTN) ENSP00000343764.6:p.Trp22010Ter
ENST00000342992.11:c.66030G>A (TTN) ENSP00000343764.6:p.Trp22010Ter
ENST00000359218.10:c.46914G>A (TTN) ENSP00000352154.5:p.Trp15638Ter
ENST00000359218.9:c.46914G>A (TTN) ENSP00000352154.5:p.Trp15638Ter
ENST00000460472.6:c.46539G>A (TTN) ENSP00000434586.1:p.Trp15513Ter
ENST00000591111.5:c.68811G>A (TTN) ENSP00000465570.1:p.Trp22937Ter
ENST00000615779.4:c.68811G>A (TTN) ENSP00000483597.1:p.Trp22937Ter
XM_011511729.1:c.72831G>A (TTN) XP_011510031.1:p.Trp24277Ter
XM_011511730.1:c.46725G>A (TTN) XP_011510032.1:p.Trp15575Ter
XM_011511731.1:c.46584G>A (TTN) XP_011510033.1:p.Trp15528Ter
XM_017004819.1:c.72627G>A (TTN) XP_016860308.1:p.Trp24209Ter
XM_017004820.1:c.68025G>A (TTN) XP_016860309.1:p.Trp22675Ter
XM_017004821.1:c.68022G>A (TTN) XP_016860310.1:p.Trp22674Ter
XM_017004822.1:c.65064G>A (TTN) XP_016860311.1:p.Trp21688Ter
XM_017004823.1:c.46680G>A (TTN) XP_016860312.1:p.Trp15560Ter
XM_024453094.1:c.68175G>A (TTN) XP_024308862.1:p.Trp22725Ter
XM_024453095.1:c.68172G>A (TTN) XP_024308863.1:p.Trp22724Ter
XM_024453096.1:c.67605G>A (TTN) XP_024308864.1:p.Trp22535Ter
XM_024453097.1:c.64947G>A (TTN) XP_024308865.1:p.Trp21649Ter
XM_024453098.1:c.64866G>A (TTN) XP_024308866.1:p.Trp21622Ter
XM_024453099.1:c.46629G>A (TTN) XP_024308867.1:p.Trp15543Ter
XM_024453100.1:c.36483G>A (TTN) XP_024308868.1:p.Trp12161Ter