Canonical Allele Identifier: CA349562388
Community Standard Title: NM_001267550.2(TTN):c.84099T>A (p.Tyr28033Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178562033A>T , CM000664.2:g.178562033A>T GRCh38
NC_000002.11:g.179426760A>T , CM000664.1:g.179426760A>T GRCh37
NC_000002.10:g.179135006A>T NCBI36
NG_011618.3:g.273770T>A , LRG_391:g.273770T>A
NG_051363.1:g.44207A>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.84099T>A (TTN) MANE Select NP_001254479.2:p.Tyr28033Ter
ENST00000589042.5:c.84099T>A (TTN) MANE Select ENSP00000467141.1:p.Tyr28033Ter
NM_001256850.1:c.79176T>A (TTN) NP_001243779.1:p.Tyr26392Ter
NM_003319.4:c.56904T>A (TTN) NP_003310.4:p.Tyr18968Ter
NM_133378.4:c.76395T>A (TTN) NP_596869.4:p.Tyr25465Ter
NM_133432.3:c.57279T>A (TTN) NP_597676.3:p.Tyr19093Ter
NM_133437.4:c.57480T>A (TTN) NP_597681.4:p.Tyr19160Ter
NR_038271.1:n.447-9267A>T (TTN-AS1)
NR_038272.1:n.2043+19672A>T (TTN-AS1)
ENST00000342175.10:c.57480T>A (TTN) ENSP00000340554.6:p.Tyr19160Ter
ENST00000342175.11:c.57480T>A (TTN) ENSP00000340554.6:p.Tyr19160Ter
ENST00000342992.10:c.76395T>A (TTN) ENSP00000343764.6:p.Tyr25465Ter
ENST00000342992.11:c.76395T>A (TTN) ENSP00000343764.6:p.Tyr25465Ter
ENST00000359218.10:c.57279T>A (TTN) ENSP00000352154.5:p.Tyr19093Ter
ENST00000359218.9:c.57279T>A (TTN) ENSP00000352154.5:p.Tyr19093Ter
ENST00000460472.6:c.56904T>A (TTN) ENSP00000434586.1:p.Tyr18968Ter
ENST00000591111.5:c.79176T>A (TTN) ENSP00000465570.1:p.Tyr26392Ter
ENST00000615779.4:c.79176T>A (TTN) ENSP00000483597.1:p.Tyr26392Ter
XM_011511729.1:c.83196T>A (TTN) XP_011510031.1:p.Tyr27732Ter
XM_011511730.1:c.57090T>A (TTN) XP_011510032.1:p.Tyr19030Ter
XM_011511731.1:c.56949T>A (TTN) XP_011510033.1:p.Tyr18983Ter
XM_017004819.1:c.82992T>A (TTN) XP_016860308.1:p.Tyr27664Ter
XM_017004820.1:c.78390T>A (TTN) XP_016860309.1:p.Tyr26130Ter
XM_017004821.1:c.78387T>A (TTN) XP_016860310.1:p.Tyr26129Ter
XM_017004822.1:c.75429T>A (TTN) XP_016860311.1:p.Tyr25143Ter
XM_017004823.1:c.57045T>A (TTN) XP_016860312.1:p.Tyr19015Ter
XM_024453094.1:c.78540T>A (TTN) XP_024308862.1:p.Tyr26180Ter
XM_024453095.1:c.78537T>A (TTN) XP_024308863.1:p.Tyr26179Ter
XM_024453096.1:c.77970T>A (TTN) XP_024308864.1:p.Tyr25990Ter
XM_024453097.1:c.75312T>A (TTN) XP_024308865.1:p.Tyr25104Ter
XM_024453098.1:c.75231T>A (TTN) XP_024308866.1:p.Tyr25077Ter
XM_024453099.1:c.56994T>A (TTN) XP_024308867.1:p.Tyr18998Ter
XM_024453100.1:c.46848T>A (TTN) XP_024308868.1:p.Tyr15616Ter