Canonical Allele Identifier: CA349589840
Community Standard Title: NM_001267550.2(TTN):c.80259T>G (p.Tyr26753Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178565873A>C , CM000664.2:g.178565873A>C GRCh38
NC_000002.11:g.179430600A>C , CM000664.1:g.179430600A>C GRCh37
NC_000002.10:g.179138846A>C NCBI36
NG_011618.3:g.269930T>G , LRG_391:g.269930T>G
NG_051363.1:g.48047A>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.80259T>G (TTN) MANE Select NP_001254479.2:p.Tyr26753Ter
ENST00000589042.5:c.80259T>G (TTN) MANE Select ENSP00000467141.1:p.Tyr26753Ter
NM_001256850.1:c.75336T>G (TTN) NP_001243779.1:p.Tyr25112Ter
NM_003319.4:c.53064T>G (TTN) NP_003310.4:p.Tyr17688Ter
NM_133378.4:c.72555T>G (TTN) NP_596869.4:p.Tyr24185Ter
NM_133432.3:c.53439T>G (TTN) NP_597676.3:p.Tyr17813Ter
NM_133437.4:c.53640T>G (TTN) NP_597681.4:p.Tyr17880Ter
NR_038271.1:n.447-5427A>C (TTN-AS1)
NR_038272.1:n.2044-16699A>C (TTN-AS1)
ENST00000342175.10:c.53640T>G (TTN) ENSP00000340554.6:p.Tyr17880Ter
ENST00000342175.11:c.53640T>G (TTN) ENSP00000340554.6:p.Tyr17880Ter
ENST00000342992.10:c.72555T>G (TTN) ENSP00000343764.6:p.Tyr24185Ter
ENST00000342992.11:c.72555T>G (TTN) ENSP00000343764.6:p.Tyr24185Ter
ENST00000359218.10:c.53439T>G (TTN) ENSP00000352154.5:p.Tyr17813Ter
ENST00000359218.9:c.53439T>G (TTN) ENSP00000352154.5:p.Tyr17813Ter
ENST00000460472.6:c.53064T>G (TTN) ENSP00000434586.1:p.Tyr17688Ter
ENST00000591111.5:c.75336T>G (TTN) ENSP00000465570.1:p.Tyr25112Ter
ENST00000615779.4:c.75336T>G (TTN) ENSP00000483597.1:p.Tyr25112Ter
XM_011511729.1:c.79356T>G (TTN) XP_011510031.1:p.Tyr26452Ter
XM_011511730.1:c.53250T>G (TTN) XP_011510032.1:p.Tyr17750Ter
XM_011511731.1:c.53109T>G (TTN) XP_011510033.1:p.Tyr17703Ter
XM_017004819.1:c.79152T>G (TTN) XP_016860308.1:p.Tyr26384Ter
XM_017004820.1:c.74550T>G (TTN) XP_016860309.1:p.Tyr24850Ter
XM_017004821.1:c.74547T>G (TTN) XP_016860310.1:p.Tyr24849Ter
XM_017004822.1:c.71589T>G (TTN) XP_016860311.1:p.Tyr23863Ter
XM_017004823.1:c.53205T>G (TTN) XP_016860312.1:p.Tyr17735Ter
XM_024453094.1:c.74700T>G (TTN) XP_024308862.1:p.Tyr24900Ter
XM_024453095.1:c.74697T>G (TTN) XP_024308863.1:p.Tyr24899Ter
XM_024453096.1:c.74130T>G (TTN) XP_024308864.1:p.Tyr24710Ter
XM_024453097.1:c.71472T>G (TTN) XP_024308865.1:p.Tyr23824Ter
XM_024453098.1:c.71391T>G (TTN) XP_024308866.1:p.Tyr23797Ter
XM_024453099.1:c.53154T>G (TTN) XP_024308867.1:p.Tyr17718Ter
XM_024453100.1:c.43008T>G (TTN) XP_024308868.1:p.Tyr14336Ter