Canonical Allele Identifier: CA349661774
Community Standard Title: NM_001267550.2(TTN):c.70701T>A (p.Tyr23567Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178575431A>T , CM000664.2:g.178575431A>T GRCh38
NC_000002.11:g.179440158A>T , CM000664.1:g.179440158A>T GRCh37
NC_000002.10:g.179148404A>T NCBI36
NG_011618.3:g.260372T>A , LRG_391:g.260372T>A
NG_051363.1:g.57605A>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.70701T>A (TTN) MANE Select NP_001254479.2:p.Tyr23567Ter
ENST00000589042.5:c.70701T>A (TTN) MANE Select ENSP00000467141.1:p.Tyr23567Ter
NM_001256850.1:c.65778T>A (TTN) NP_001243779.1:p.Tyr21926Ter
NM_003319.4:c.43506T>A (TTN) NP_003310.4:p.Tyr14502Ter
NM_133378.4:c.62997T>A (TTN) NP_596869.4:p.Tyr20999Ter
NM_133432.3:c.43881T>A (TTN) NP_597676.3:p.Tyr14627Ter
NM_133437.4:c.44082T>A (TTN) NP_597681.4:p.Tyr14694Ter
NR_038271.1:n.596+3982A>T (TTN-AS1)
NR_038272.1:n.2044-7141A>T (TTN-AS1)
ENST00000342175.10:c.44082T>A (TTN) ENSP00000340554.6:p.Tyr14694Ter
ENST00000342175.11:c.44082T>A (TTN) ENSP00000340554.6:p.Tyr14694Ter
ENST00000342992.10:c.62997T>A (TTN) ENSP00000343764.6:p.Tyr20999Ter
ENST00000342992.11:c.62997T>A (TTN) ENSP00000343764.6:p.Tyr20999Ter
ENST00000359218.10:c.43881T>A (TTN) ENSP00000352154.5:p.Tyr14627Ter
ENST00000359218.9:c.43881T>A (TTN) ENSP00000352154.5:p.Tyr14627Ter
ENST00000460472.6:c.43506T>A (TTN) ENSP00000434586.1:p.Tyr14502Ter
ENST00000591111.5:c.65778T>A (TTN) ENSP00000465570.1:p.Tyr21926Ter
ENST00000615779.4:c.65778T>A (TTN) ENSP00000483597.1:p.Tyr21926Ter
XM_011511729.1:c.69798T>A (TTN) XP_011510031.1:p.Tyr23266Ter
XM_011511730.1:c.43692T>A (TTN) XP_011510032.1:p.Tyr14564Ter
XM_011511731.1:c.43551T>A (TTN) XP_011510033.1:p.Tyr14517Ter
XM_017004819.1:c.69594T>A (TTN) XP_016860308.1:p.Tyr23198Ter
XM_017004820.1:c.64992T>A (TTN) XP_016860309.1:p.Tyr21664Ter
XM_017004821.1:c.64989T>A (TTN) XP_016860310.1:p.Tyr21663Ter
XM_017004822.1:c.62031T>A (TTN) XP_016860311.1:p.Tyr20677Ter
XM_017004823.1:c.43647T>A (TTN) XP_016860312.1:p.Tyr14549Ter
XM_024453094.1:c.65142T>A (TTN) XP_024308862.1:p.Tyr21714Ter
XM_024453095.1:c.65139T>A (TTN) XP_024308863.1:p.Tyr21713Ter
XM_024453096.1:c.64572T>A (TTN) XP_024308864.1:p.Tyr21524Ter
XM_024453097.1:c.61914T>A (TTN) XP_024308865.1:p.Tyr20638Ter
XM_024453098.1:c.61833T>A (TTN) XP_024308866.1:p.Tyr20611Ter
XM_024453099.1:c.43596T>A (TTN) XP_024308867.1:p.Tyr14532Ter
XM_024453100.1:c.33450T>A (TTN) XP_024308868.1:p.Tyr11150Ter