Canonical Allele Identifier: CA349430881
Community Standard Title: NM_001267550.2(TTN):c.99135G>A (p.Trp33045Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178538694C>T , CM000664.2:g.178538694C>T GRCh38
NC_000002.11:g.179403421C>T , CM000664.1:g.179403421C>T GRCh37
NC_000002.10:g.179111667C>T NCBI36
NG_011618.3:g.297109G>A , LRG_391:g.297109G>A
NG_051363.1:g.20868C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.99135G>A (TTN) MANE Select NP_001254479.2:p.Trp33045Ter
ENST00000589042.5:c.99135G>A (TTN) MANE Select ENSP00000467141.1:p.Trp33045Ter
NM_001256850.1:c.94212G>A (TTN) NP_001243779.1:p.Trp31404Ter
NM_003319.4:c.71940G>A (TTN) NP_003310.4:p.Trp23980Ter
NM_133378.4:c.91431G>A (TTN) NP_596869.4:p.Trp30477Ter
NM_133432.3:c.72315G>A (TTN) NP_597676.3:p.Trp24105Ter
NM_133437.4:c.72516G>A (TTN) NP_597681.4:p.Trp24172Ter
NR_038271.1:n.446+15058C>T (TTN-AS1)
NR_038272.1:n.648-4C>T (TTN-AS1)
ENST00000342175.10:c.72516G>A (TTN) ENSP00000340554.6:p.Trp24172Ter
ENST00000342175.11:c.72516G>A (TTN) ENSP00000340554.6:p.Trp24172Ter
ENST00000342992.10:c.91431G>A (TTN) ENSP00000343764.6:p.Trp30477Ter
ENST00000342992.11:c.91431G>A (TTN) ENSP00000343764.6:p.Trp30477Ter
ENST00000359218.10:c.72315G>A (TTN) ENSP00000352154.5:p.Trp24105Ter
ENST00000359218.9:c.72315G>A (TTN) ENSP00000352154.5:p.Trp24105Ter
ENST00000460472.6:c.71940G>A (TTN) ENSP00000434586.1:p.Trp23980Ter
ENST00000591111.5:c.94212G>A (TTN) ENSP00000465570.1:p.Trp31404Ter
ENST00000615779.4:c.94212G>A (TTN) ENSP00000483597.1:p.Trp31404Ter
XM_011511729.1:c.98232G>A (TTN) XP_011510031.1:p.Trp32744Ter
XM_011511730.1:c.72126G>A (TTN) XP_011510032.1:p.Trp24042Ter
XM_011511731.1:c.71985G>A (TTN) XP_011510033.1:p.Trp23995Ter
XM_017004819.1:c.98028G>A (TTN) XP_016860308.1:p.Trp32676Ter
XM_017004820.1:c.93426G>A (TTN) XP_016860309.1:p.Trp31142Ter
XM_017004821.1:c.93423G>A (TTN) XP_016860310.1:p.Trp31141Ter
XM_017004822.1:c.90465G>A (TTN) XP_016860311.1:p.Trp30155Ter
XM_017004823.1:c.72081G>A (TTN) XP_016860312.1:p.Trp24027Ter
XM_024453094.1:c.93576G>A (TTN) XP_024308862.1:p.Trp31192Ter
XM_024453095.1:c.93573G>A (TTN) XP_024308863.1:p.Trp31191Ter
XM_024453096.1:c.93006G>A (TTN) XP_024308864.1:p.Trp31002Ter
XM_024453097.1:c.90348G>A (TTN) XP_024308865.1:p.Trp30116Ter
XM_024453098.1:c.90267G>A (TTN) XP_024308866.1:p.Trp30089Ter
XM_024453099.1:c.72030G>A (TTN) XP_024308867.1:p.Trp24010Ter
XM_024453100.1:c.61884G>A (TTN) XP_024308868.1:p.Trp20628Ter