Canonical Allele Identifier: CA349643934
Community Standard Title: NM_001267550.2(TTN):c.73110G>A (p.Trp24370Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178573022C>T , CM000664.2:g.178573022C>T GRCh38
NC_000002.11:g.179437749C>T , CM000664.1:g.179437749C>T GRCh37
NC_000002.10:g.179145995C>T NCBI36
NG_011618.3:g.262781G>A , LRG_391:g.262781G>A
NG_051363.1:g.55196C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.73110G>A (TTN) MANE Select NP_001254479.2:p.Trp24370Ter
ENST00000589042.5:c.73110G>A (TTN) MANE Select ENSP00000467141.1:p.Trp24370Ter
NM_001256850.1:c.68187G>A (TTN) NP_001243779.1:p.Trp22729Ter
NM_003319.4:c.45915G>A (TTN) NP_003310.4:p.Trp15305Ter
NM_133378.4:c.65406G>A (TTN) NP_596869.4:p.Trp21802Ter
NM_133432.3:c.46290G>A (TTN) NP_597676.3:p.Trp15430Ter
NM_133437.4:c.46491G>A (TTN) NP_597681.4:p.Trp15497Ter
NR_038271.1:n.596+1573C>T (TTN-AS1)
NR_038272.1:n.2044-9550C>T (TTN-AS1)
ENST00000342175.10:c.46491G>A (TTN) ENSP00000340554.6:p.Trp15497Ter
ENST00000342175.11:c.46491G>A (TTN) ENSP00000340554.6:p.Trp15497Ter
ENST00000342992.10:c.65406G>A (TTN) ENSP00000343764.6:p.Trp21802Ter
ENST00000342992.11:c.65406G>A (TTN) ENSP00000343764.6:p.Trp21802Ter
ENST00000359218.10:c.46290G>A (TTN) ENSP00000352154.5:p.Trp15430Ter
ENST00000359218.9:c.46290G>A (TTN) ENSP00000352154.5:p.Trp15430Ter
ENST00000460472.6:c.45915G>A (TTN) ENSP00000434586.1:p.Trp15305Ter
ENST00000591111.5:c.68187G>A (TTN) ENSP00000465570.1:p.Trp22729Ter
ENST00000615779.4:c.68187G>A (TTN) ENSP00000483597.1:p.Trp22729Ter
XM_011511729.1:c.72207G>A (TTN) XP_011510031.1:p.Trp24069Ter
XM_011511730.1:c.46101G>A (TTN) XP_011510032.1:p.Trp15367Ter
XM_011511731.1:c.45960G>A (TTN) XP_011510033.1:p.Trp15320Ter
XM_017004819.1:c.72003G>A (TTN) XP_016860308.1:p.Trp24001Ter
XM_017004820.1:c.67401G>A (TTN) XP_016860309.1:p.Trp22467Ter
XM_017004821.1:c.67398G>A (TTN) XP_016860310.1:p.Trp22466Ter
XM_017004822.1:c.64440G>A (TTN) XP_016860311.1:p.Trp21480Ter
XM_017004823.1:c.46056G>A (TTN) XP_016860312.1:p.Trp15352Ter
XM_024453094.1:c.67551G>A (TTN) XP_024308862.1:p.Trp22517Ter
XM_024453095.1:c.67548G>A (TTN) XP_024308863.1:p.Trp22516Ter
XM_024453096.1:c.66981G>A (TTN) XP_024308864.1:p.Trp22327Ter
XM_024453097.1:c.64323G>A (TTN) XP_024308865.1:p.Trp21441Ter
XM_024453098.1:c.64242G>A (TTN) XP_024308866.1:p.Trp21414Ter
XM_024453099.1:c.46005G>A (TTN) XP_024308867.1:p.Trp15335Ter
XM_024453100.1:c.35859G>A (TTN) XP_024308868.1:p.Trp11953Ter