Canonical Allele Identifier: CA349486451
Community Standard Title: NM_001267550.2(TTN):c.93288T>A (p.Tyr31096Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178548338A>T , CM000664.2:g.178548338A>T GRCh38
NC_000002.11:g.179413065A>T , CM000664.1:g.179413065A>T GRCh37
NC_000002.10:g.179121311A>T NCBI36
NG_011618.3:g.287465T>A , LRG_391:g.287465T>A
NG_051363.1:g.30512A>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.93288T>A (TTN) MANE Select NP_001254479.2:p.Tyr31096Ter
ENST00000589042.5:c.93288T>A (TTN) MANE Select ENSP00000467141.1:p.Tyr31096Ter
NM_001256850.1:c.88365T>A (TTN) NP_001243779.1:p.Tyr29455Ter
NM_003319.4:c.66093T>A (TTN) NP_003310.4:p.Tyr22031Ter
NM_133378.4:c.85584T>A (TTN) NP_596869.4:p.Tyr28528Ter
NM_133432.3:c.66468T>A (TTN) NP_597676.3:p.Tyr22156Ter
NM_133437.4:c.66669T>A (TTN) NP_597681.4:p.Tyr22223Ter
NR_038271.1:n.447-22962A>T (TTN-AS1)
NR_038272.1:n.2043+5977A>T (TTN-AS1)
ENST00000342175.10:c.66669T>A (TTN) ENSP00000340554.6:p.Tyr22223Ter
ENST00000342175.11:c.66669T>A (TTN) ENSP00000340554.6:p.Tyr22223Ter
ENST00000342992.10:c.85584T>A (TTN) ENSP00000343764.6:p.Tyr28528Ter
ENST00000342992.11:c.85584T>A (TTN) ENSP00000343764.6:p.Tyr28528Ter
ENST00000359218.10:c.66468T>A (TTN) ENSP00000352154.5:p.Tyr22156Ter
ENST00000359218.9:c.66468T>A (TTN) ENSP00000352154.5:p.Tyr22156Ter
ENST00000460472.6:c.66093T>A (TTN) ENSP00000434586.1:p.Tyr22031Ter
ENST00000591111.5:c.88365T>A (TTN) ENSP00000465570.1:p.Tyr29455Ter
ENST00000615779.4:c.88365T>A (TTN) ENSP00000483597.1:p.Tyr29455Ter
XM_011511729.1:c.92385T>A (TTN) XP_011510031.1:p.Tyr30795Ter
XM_011511730.1:c.66279T>A (TTN) XP_011510032.1:p.Tyr22093Ter
XM_011511731.1:c.66138T>A (TTN) XP_011510033.1:p.Tyr22046Ter
XM_017004819.1:c.92181T>A (TTN) XP_016860308.1:p.Tyr30727Ter
XM_017004820.1:c.87579T>A (TTN) XP_016860309.1:p.Tyr29193Ter
XM_017004821.1:c.87576T>A (TTN) XP_016860310.1:p.Tyr29192Ter
XM_017004822.1:c.84618T>A (TTN) XP_016860311.1:p.Tyr28206Ter
XM_017004823.1:c.66234T>A (TTN) XP_016860312.1:p.Tyr22078Ter
XM_024453094.1:c.87729T>A (TTN) XP_024308862.1:p.Tyr29243Ter
XM_024453095.1:c.87726T>A (TTN) XP_024308863.1:p.Tyr29242Ter
XM_024453096.1:c.87159T>A (TTN) XP_024308864.1:p.Tyr29053Ter
XM_024453097.1:c.84501T>A (TTN) XP_024308865.1:p.Tyr28167Ter
XM_024453098.1:c.84420T>A (TTN) XP_024308866.1:p.Tyr28140Ter
XM_024453099.1:c.66183T>A (TTN) XP_024308867.1:p.Tyr22061Ter
XM_024453100.1:c.56037T>A (TTN) XP_024308868.1:p.Tyr18679Ter