Canonical Allele Identifier: CA349465641
Community Standard Title: NM_001267550.2(TTN):c.62184C>A (p.Tyr20728Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178589541G>T , CM000664.2:g.178589541G>T GRCh38
NC_000002.11:g.179454268G>T , CM000664.1:g.179454268G>T GRCh37
NC_000002.10:g.179162514G>T NCBI36
NG_011618.3:g.246262C>A , LRG_391:g.246262C>A
NG_051363.1:g.71715G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.62184C>A (TTN) MANE Select NP_001254479.2:p.Tyr20728Ter
ENST00000589042.5:c.62184C>A (TTN) MANE Select ENSP00000467141.1:p.Tyr20728Ter
NM_001256850.1:c.57261C>A (TTN) NP_001243779.1:p.Tyr19087Ter
NM_003319.4:c.34989C>A (TTN) NP_003310.4:p.Tyr11663Ter
NM_133378.4:c.54480C>A (TTN) NP_596869.4:p.Tyr18160Ter
NM_133432.3:c.35364C>A (TTN) NP_597676.3:p.Tyr11788Ter
NM_133437.4:c.35565C>A (TTN) NP_597681.4:p.Tyr11855Ter
NR_038271.1:n.597-8055G>T (TTN-AS1)
NR_038272.1:n.3189-1598G>T (TTN-AS1)
ENST00000342175.10:c.35565C>A (TTN) ENSP00000340554.6:p.Tyr11855Ter
ENST00000342175.11:c.35565C>A (TTN) ENSP00000340554.6:p.Tyr11855Ter
ENST00000342992.10:c.54480C>A (TTN) ENSP00000343764.6:p.Tyr18160Ter
ENST00000342992.11:c.54480C>A (TTN) ENSP00000343764.6:p.Tyr18160Ter
ENST00000359218.10:c.35364C>A (TTN) ENSP00000352154.5:p.Tyr11788Ter
ENST00000359218.9:c.35364C>A (TTN) ENSP00000352154.5:p.Tyr11788Ter
ENST00000460472.6:c.34989C>A (TTN) ENSP00000434586.1:p.Tyr11663Ter
ENST00000591111.5:c.57261C>A (TTN) ENSP00000465570.1:p.Tyr19087Ter
ENST00000615779.4:c.57261C>A (TTN) ENSP00000483597.1:p.Tyr19087Ter
XM_011511729.1:c.61281C>A (TTN) XP_011510031.1:p.Tyr20427Ter
XM_011511730.1:c.35175C>A (TTN) XP_011510032.1:p.Tyr11725Ter
XM_011511731.1:c.35034C>A (TTN) XP_011510033.1:p.Tyr11678Ter
XM_017004819.1:c.61077C>A (TTN) XP_016860308.1:p.Tyr20359Ter
XM_017004820.1:c.56475C>A (TTN) XP_016860309.1:p.Tyr18825Ter
XM_017004821.1:c.56472C>A (TTN) XP_016860310.1:p.Tyr18824Ter
XM_017004822.1:c.53514C>A (TTN) XP_016860311.1:p.Tyr17838Ter
XM_017004823.1:c.35130C>A (TTN) XP_016860312.1:p.Tyr11710Ter
XM_024453094.1:c.56625C>A (TTN) XP_024308862.1:p.Tyr18875Ter
XM_024453095.1:c.56622C>A (TTN) XP_024308863.1:p.Tyr18874Ter
XM_024453096.1:c.56055C>A (TTN) XP_024308864.1:p.Tyr18685Ter
XM_024453097.1:c.53397C>A (TTN) XP_024308865.1:p.Tyr17799Ter
XM_024453098.1:c.53316C>A (TTN) XP_024308866.1:p.Tyr17772Ter
XM_024453099.1:c.35079C>A (TTN) XP_024308867.1:p.Tyr11693Ter
XM_024453100.1:c.24933C>A (TTN) XP_024308868.1:p.Tyr8311Ter