Canonical Allele Identifier: CA349592905
Community Standard Title: NM_001267550.2(TTN):c.79912C>T (p.Gln26638Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178566220G>A , CM000664.2:g.178566220G>A GRCh38
NC_000002.11:g.179430947G>A , CM000664.1:g.179430947G>A GRCh37
NC_000002.10:g.179139193G>A NCBI36
NG_011618.3:g.269583C>T , LRG_391:g.269583C>T
NG_051363.1:g.48394G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.79912C>T (TTN) MANE Select NP_001254479.2:p.Gln26638Ter
ENST00000589042.5:c.79912C>T (TTN) MANE Select ENSP00000467141.1:p.Gln26638Ter
NM_001256850.1:c.74989C>T (TTN) NP_001243779.1:p.Gln24997Ter
NM_003319.4:c.52717C>T (TTN) NP_003310.4:p.Gln17573Ter
NM_133378.4:c.72208C>T (TTN) NP_596869.4:p.Gln24070Ter
NM_133432.3:c.53092C>T (TTN) NP_597676.3:p.Gln17698Ter
NM_133437.4:c.53293C>T (TTN) NP_597681.4:p.Gln17765Ter
NR_038271.1:n.447-5080G>A (TTN-AS1)
NR_038272.1:n.2044-16352G>A (TTN-AS1)
ENST00000342175.10:c.53293C>T (TTN) ENSP00000340554.6:p.Gln17765Ter
ENST00000342175.11:c.53293C>T (TTN) ENSP00000340554.6:p.Gln17765Ter
ENST00000342992.10:c.72208C>T (TTN) ENSP00000343764.6:p.Gln24070Ter
ENST00000342992.11:c.72208C>T (TTN) ENSP00000343764.6:p.Gln24070Ter
ENST00000359218.10:c.53092C>T (TTN) ENSP00000352154.5:p.Gln17698Ter
ENST00000359218.9:c.53092C>T (TTN) ENSP00000352154.5:p.Gln17698Ter
ENST00000460472.6:c.52717C>T (TTN) ENSP00000434586.1:p.Gln17573Ter
ENST00000591111.5:c.74989C>T (TTN) ENSP00000465570.1:p.Gln24997Ter
ENST00000615779.4:c.74989C>T (TTN) ENSP00000483597.1:p.Gln24997Ter
XM_011511729.1:c.79009C>T (TTN) XP_011510031.1:p.Gln26337Ter
XM_011511730.1:c.52903C>T (TTN) XP_011510032.1:p.Gln17635Ter
XM_011511731.1:c.52762C>T (TTN) XP_011510033.1:p.Gln17588Ter
XM_017004819.1:c.78805C>T (TTN) XP_016860308.1:p.Gln26269Ter
XM_017004820.1:c.74203C>T (TTN) XP_016860309.1:p.Gln24735Ter
XM_017004821.1:c.74200C>T (TTN) XP_016860310.1:p.Gln24734Ter
XM_017004822.1:c.71242C>T (TTN) XP_016860311.1:p.Gln23748Ter
XM_017004823.1:c.52858C>T (TTN) XP_016860312.1:p.Gln17620Ter
XM_024453094.1:c.74353C>T (TTN) XP_024308862.1:p.Gln24785Ter
XM_024453095.1:c.74350C>T (TTN) XP_024308863.1:p.Gln24784Ter
XM_024453096.1:c.73783C>T (TTN) XP_024308864.1:p.Gln24595Ter
XM_024453097.1:c.71125C>T (TTN) XP_024308865.1:p.Gln23709Ter
XM_024453098.1:c.71044C>T (TTN) XP_024308866.1:p.Gln23682Ter
XM_024453099.1:c.52807C>T (TTN) XP_024308867.1:p.Gln17603Ter
XM_024453100.1:c.42661C>T (TTN) XP_024308868.1:p.Gln14221Ter