Canonical Allele Identifier: CA349660201
Community Standard Title: NM_001267550.2(TTN):c.70917T>A (p.Tyr23639Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178575215A>T , CM000664.2:g.178575215A>T GRCh38
NC_000002.11:g.179439942A>T , CM000664.1:g.179439942A>T GRCh37
NC_000002.10:g.179148188A>T NCBI36
NG_011618.3:g.260588T>A , LRG_391:g.260588T>A
NG_051363.1:g.57389A>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.70917T>A (TTN) MANE Select NP_001254479.2:p.Tyr23639Ter
ENST00000589042.5:c.70917T>A (TTN) MANE Select ENSP00000467141.1:p.Tyr23639Ter
NM_001256850.1:c.65994T>A (TTN) NP_001243779.1:p.Tyr21998Ter
NM_003319.4:c.43722T>A (TTN) NP_003310.4:p.Tyr14574Ter
NM_133378.4:c.63213T>A (TTN) NP_596869.4:p.Tyr21071Ter
NM_133432.3:c.44097T>A (TTN) NP_597676.3:p.Tyr14699Ter
NM_133437.4:c.44298T>A (TTN) NP_597681.4:p.Tyr14766Ter
NR_038271.1:n.596+3766A>T (TTN-AS1)
NR_038272.1:n.2044-7357A>T (TTN-AS1)
ENST00000342175.10:c.44298T>A (TTN) ENSP00000340554.6:p.Tyr14766Ter
ENST00000342175.11:c.44298T>A (TTN) ENSP00000340554.6:p.Tyr14766Ter
ENST00000342992.10:c.63213T>A (TTN) ENSP00000343764.6:p.Tyr21071Ter
ENST00000342992.11:c.63213T>A (TTN) ENSP00000343764.6:p.Tyr21071Ter
ENST00000359218.10:c.44097T>A (TTN) ENSP00000352154.5:p.Tyr14699Ter
ENST00000359218.9:c.44097T>A (TTN) ENSP00000352154.5:p.Tyr14699Ter
ENST00000460472.6:c.43722T>A (TTN) ENSP00000434586.1:p.Tyr14574Ter
ENST00000591111.5:c.65994T>A (TTN) ENSP00000465570.1:p.Tyr21998Ter
ENST00000615779.4:c.65994T>A (TTN) ENSP00000483597.1:p.Tyr21998Ter
XM_011511729.1:c.70014T>A (TTN) XP_011510031.1:p.Tyr23338Ter
XM_011511730.1:c.43908T>A (TTN) XP_011510032.1:p.Tyr14636Ter
XM_011511731.1:c.43767T>A (TTN) XP_011510033.1:p.Tyr14589Ter
XM_017004819.1:c.69810T>A (TTN) XP_016860308.1:p.Tyr23270Ter
XM_017004820.1:c.65208T>A (TTN) XP_016860309.1:p.Tyr21736Ter
XM_017004821.1:c.65205T>A (TTN) XP_016860310.1:p.Tyr21735Ter
XM_017004822.1:c.62247T>A (TTN) XP_016860311.1:p.Tyr20749Ter
XM_017004823.1:c.43863T>A (TTN) XP_016860312.1:p.Tyr14621Ter
XM_024453094.1:c.65358T>A (TTN) XP_024308862.1:p.Tyr21786Ter
XM_024453095.1:c.65355T>A (TTN) XP_024308863.1:p.Tyr21785Ter
XM_024453096.1:c.64788T>A (TTN) XP_024308864.1:p.Tyr21596Ter
XM_024453097.1:c.62130T>A (TTN) XP_024308865.1:p.Tyr20710Ter
XM_024453098.1:c.62049T>A (TTN) XP_024308866.1:p.Tyr20683Ter
XM_024453099.1:c.43812T>A (TTN) XP_024308867.1:p.Tyr14604Ter
XM_024453100.1:c.33666T>A (TTN) XP_024308868.1:p.Tyr11222Ter