Canonical Allele Identifier: CA349588735
Community Standard Title: NM_001267550.2(TTN):c.80445C>A (p.Tyr26815Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178565687G>T , CM000664.2:g.178565687G>T GRCh38
NC_000002.11:g.179430414G>T , CM000664.1:g.179430414G>T GRCh37
NC_000002.10:g.179138660G>T NCBI36
NG_011618.3:g.270116C>A , LRG_391:g.270116C>A
NG_051363.1:g.47861G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.80445C>A (TTN) MANE Select NP_001254479.2:p.Tyr26815Ter
ENST00000589042.5:c.80445C>A (TTN) MANE Select ENSP00000467141.1:p.Tyr26815Ter
NM_001256850.1:c.75522C>A (TTN) NP_001243779.1:p.Tyr25174Ter
NM_003319.4:c.53250C>A (TTN) NP_003310.4:p.Tyr17750Ter
NM_133378.4:c.72741C>A (TTN) NP_596869.4:p.Tyr24247Ter
NM_133432.3:c.53625C>A (TTN) NP_597676.3:p.Tyr17875Ter
NM_133437.4:c.53826C>A (TTN) NP_597681.4:p.Tyr17942Ter
NR_038271.1:n.447-5613G>T (TTN-AS1)
NR_038272.1:n.2044-16885G>T (TTN-AS1)
ENST00000342175.10:c.53826C>A (TTN) ENSP00000340554.6:p.Tyr17942Ter
ENST00000342175.11:c.53826C>A (TTN) ENSP00000340554.6:p.Tyr17942Ter
ENST00000342992.10:c.72741C>A (TTN) ENSP00000343764.6:p.Tyr24247Ter
ENST00000342992.11:c.72741C>A (TTN) ENSP00000343764.6:p.Tyr24247Ter
ENST00000359218.10:c.53625C>A (TTN) ENSP00000352154.5:p.Tyr17875Ter
ENST00000359218.9:c.53625C>A (TTN) ENSP00000352154.5:p.Tyr17875Ter
ENST00000460472.6:c.53250C>A (TTN) ENSP00000434586.1:p.Tyr17750Ter
ENST00000591111.5:c.75522C>A (TTN) ENSP00000465570.1:p.Tyr25174Ter
ENST00000615779.4:c.75522C>A (TTN) ENSP00000483597.1:p.Tyr25174Ter
XM_011511729.1:c.79542C>A (TTN) XP_011510031.1:p.Tyr26514Ter
XM_011511730.1:c.53436C>A (TTN) XP_011510032.1:p.Tyr17812Ter
XM_011511731.1:c.53295C>A (TTN) XP_011510033.1:p.Tyr17765Ter
XM_017004819.1:c.79338C>A (TTN) XP_016860308.1:p.Tyr26446Ter
XM_017004820.1:c.74736C>A (TTN) XP_016860309.1:p.Tyr24912Ter
XM_017004821.1:c.74733C>A (TTN) XP_016860310.1:p.Tyr24911Ter
XM_017004822.1:c.71775C>A (TTN) XP_016860311.1:p.Tyr23925Ter
XM_017004823.1:c.53391C>A (TTN) XP_016860312.1:p.Tyr17797Ter
XM_024453094.1:c.74886C>A (TTN) XP_024308862.1:p.Tyr24962Ter
XM_024453095.1:c.74883C>A (TTN) XP_024308863.1:p.Tyr24961Ter
XM_024453096.1:c.74316C>A (TTN) XP_024308864.1:p.Tyr24772Ter
XM_024453097.1:c.71658C>A (TTN) XP_024308865.1:p.Tyr23886Ter
XM_024453098.1:c.71577C>A (TTN) XP_024308866.1:p.Tyr23859Ter
XM_024453099.1:c.53340C>A (TTN) XP_024308867.1:p.Tyr17780Ter
XM_024453100.1:c.43194C>A (TTN) XP_024308868.1:p.Tyr14398Ter