Canonical Allele Identifier: CA349653815
Community Standard Title: NM_001267550.2(TTN):c.71421T>G (p.Tyr23807Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178574711A>C , CM000664.2:g.178574711A>C GRCh38
NC_000002.11:g.179439438A>C , CM000664.1:g.179439438A>C GRCh37
NC_000002.10:g.179147684A>C NCBI36
NG_011618.3:g.261092T>G , LRG_391:g.261092T>G
NG_051363.1:g.56885A>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.71421T>G (TTN) MANE Select NP_001254479.2:p.Tyr23807Ter
ENST00000589042.5:c.71421T>G (TTN) MANE Select ENSP00000467141.1:p.Tyr23807Ter
NM_001256850.1:c.66498T>G (TTN) NP_001243779.1:p.Tyr22166Ter
NM_003319.4:c.44226T>G (TTN) NP_003310.4:p.Tyr14742Ter
NM_133378.4:c.63717T>G (TTN) NP_596869.4:p.Tyr21239Ter
NM_133432.3:c.44601T>G (TTN) NP_597676.3:p.Tyr14867Ter
NM_133437.4:c.44802T>G (TTN) NP_597681.4:p.Tyr14934Ter
NR_038271.1:n.596+3262A>C (TTN-AS1)
NR_038272.1:n.2044-7861A>C (TTN-AS1)
ENST00000342175.10:c.44802T>G (TTN) ENSP00000340554.6:p.Tyr14934Ter
ENST00000342175.11:c.44802T>G (TTN) ENSP00000340554.6:p.Tyr14934Ter
ENST00000342992.10:c.63717T>G (TTN) ENSP00000343764.6:p.Tyr21239Ter
ENST00000342992.11:c.63717T>G (TTN) ENSP00000343764.6:p.Tyr21239Ter
ENST00000359218.10:c.44601T>G (TTN) ENSP00000352154.5:p.Tyr14867Ter
ENST00000359218.9:c.44601T>G (TTN) ENSP00000352154.5:p.Tyr14867Ter
ENST00000460472.6:c.44226T>G (TTN) ENSP00000434586.1:p.Tyr14742Ter
ENST00000591111.5:c.66498T>G (TTN) ENSP00000465570.1:p.Tyr22166Ter
ENST00000615779.4:c.66498T>G (TTN) ENSP00000483597.1:p.Tyr22166Ter
XM_011511729.1:c.70518T>G (TTN) XP_011510031.1:p.Tyr23506Ter
XM_011511730.1:c.44412T>G (TTN) XP_011510032.1:p.Tyr14804Ter
XM_011511731.1:c.44271T>G (TTN) XP_011510033.1:p.Tyr14757Ter
XM_017004819.1:c.70314T>G (TTN) XP_016860308.1:p.Tyr23438Ter
XM_017004820.1:c.65712T>G (TTN) XP_016860309.1:p.Tyr21904Ter
XM_017004821.1:c.65709T>G (TTN) XP_016860310.1:p.Tyr21903Ter
XM_017004822.1:c.62751T>G (TTN) XP_016860311.1:p.Tyr20917Ter
XM_017004823.1:c.44367T>G (TTN) XP_016860312.1:p.Tyr14789Ter
XM_024453094.1:c.65862T>G (TTN) XP_024308862.1:p.Tyr21954Ter
XM_024453095.1:c.65859T>G (TTN) XP_024308863.1:p.Tyr21953Ter
XM_024453096.1:c.65292T>G (TTN) XP_024308864.1:p.Tyr21764Ter
XM_024453097.1:c.62634T>G (TTN) XP_024308865.1:p.Tyr20878Ter
XM_024453098.1:c.62553T>G (TTN) XP_024308866.1:p.Tyr20851Ter
XM_024453099.1:c.44316T>G (TTN) XP_024308867.1:p.Tyr14772Ter
XM_024453100.1:c.34170T>G (TTN) XP_024308868.1:p.Tyr11390Ter