Canonical Allele Identifier: CA349578454
Community Standard Title: NM_001267550.2(TTN):c.81723T>A (p.Tyr27241Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178564409A>T , CM000664.2:g.178564409A>T GRCh38
NC_000002.11:g.179429136A>T , CM000664.1:g.179429136A>T GRCh37
NC_000002.10:g.179137382A>T NCBI36
NG_011618.3:g.271394T>A , LRG_391:g.271394T>A
NG_051363.1:g.46583A>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.81723T>A (TTN) MANE Select NP_001254479.2:p.Tyr27241Ter
ENST00000589042.5:c.81723T>A (TTN) MANE Select ENSP00000467141.1:p.Tyr27241Ter
NM_001256850.1:c.76800T>A (TTN) NP_001243779.1:p.Tyr25600Ter
NM_003319.4:c.54528T>A (TTN) NP_003310.4:p.Tyr18176Ter
NM_133378.4:c.74019T>A (TTN) NP_596869.4:p.Tyr24673Ter
NM_133432.3:c.54903T>A (TTN) NP_597676.3:p.Tyr18301Ter
NM_133437.4:c.55104T>A (TTN) NP_597681.4:p.Tyr18368Ter
NR_038271.1:n.447-6891A>T (TTN-AS1)
NR_038272.1:n.2044-18163A>T (TTN-AS1)
ENST00000342175.10:c.55104T>A (TTN) ENSP00000340554.6:p.Tyr18368Ter
ENST00000342175.11:c.55104T>A (TTN) ENSP00000340554.6:p.Tyr18368Ter
ENST00000342992.10:c.74019T>A (TTN) ENSP00000343764.6:p.Tyr24673Ter
ENST00000342992.11:c.74019T>A (TTN) ENSP00000343764.6:p.Tyr24673Ter
ENST00000359218.10:c.54903T>A (TTN) ENSP00000352154.5:p.Tyr18301Ter
ENST00000359218.9:c.54903T>A (TTN) ENSP00000352154.5:p.Tyr18301Ter
ENST00000460472.6:c.54528T>A (TTN) ENSP00000434586.1:p.Tyr18176Ter
ENST00000591111.5:c.76800T>A (TTN) ENSP00000465570.1:p.Tyr25600Ter
ENST00000615779.4:c.76800T>A (TTN) ENSP00000483597.1:p.Tyr25600Ter
XM_011511729.1:c.80820T>A (TTN) XP_011510031.1:p.Tyr26940Ter
XM_011511730.1:c.54714T>A (TTN) XP_011510032.1:p.Tyr18238Ter
XM_011511731.1:c.54573T>A (TTN) XP_011510033.1:p.Tyr18191Ter
XM_017004819.1:c.80616T>A (TTN) XP_016860308.1:p.Tyr26872Ter
XM_017004820.1:c.76014T>A (TTN) XP_016860309.1:p.Tyr25338Ter
XM_017004821.1:c.76011T>A (TTN) XP_016860310.1:p.Tyr25337Ter
XM_017004822.1:c.73053T>A (TTN) XP_016860311.1:p.Tyr24351Ter
XM_017004823.1:c.54669T>A (TTN) XP_016860312.1:p.Tyr18223Ter
XM_024453094.1:c.76164T>A (TTN) XP_024308862.1:p.Tyr25388Ter
XM_024453095.1:c.76161T>A (TTN) XP_024308863.1:p.Tyr25387Ter
XM_024453096.1:c.75594T>A (TTN) XP_024308864.1:p.Tyr25198Ter
XM_024453097.1:c.72936T>A (TTN) XP_024308865.1:p.Tyr24312Ter
XM_024453098.1:c.72855T>A (TTN) XP_024308866.1:p.Tyr24285Ter
XM_024453099.1:c.54618T>A (TTN) XP_024308867.1:p.Tyr18206Ter
XM_024453100.1:c.44472T>A (TTN) XP_024308868.1:p.Tyr14824Ter