Canonical Allele Identifier: CA349664054
Community Standard Title: NM_001267550.2(TTN):c.70224T>A (p.Tyr23408Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178575908A>T , CM000664.2:g.178575908A>T GRCh38
NC_000002.11:g.179440635A>T , CM000664.1:g.179440635A>T GRCh37
NC_000002.10:g.179148881A>T NCBI36
NG_011618.3:g.259895T>A , LRG_391:g.259895T>A
NG_051363.1:g.58082A>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.70224T>A (TTN) MANE Select NP_001254479.2:p.Tyr23408Ter
ENST00000589042.5:c.70224T>A (TTN) MANE Select ENSP00000467141.1:p.Tyr23408Ter
NM_001256850.1:c.65301T>A (TTN) NP_001243779.1:p.Tyr21767Ter
NM_003319.4:c.43029T>A (TTN) NP_003310.4:p.Tyr14343Ter
NM_133378.4:c.62520T>A (TTN) NP_596869.4:p.Tyr20840Ter
NM_133432.3:c.43404T>A (TTN) NP_597676.3:p.Tyr14468Ter
NM_133437.4:c.43605T>A (TTN) NP_597681.4:p.Tyr14535Ter
NR_038271.1:n.596+4459A>T (TTN-AS1)
NR_038272.1:n.2044-6664A>T (TTN-AS1)
ENST00000342175.10:c.43605T>A (TTN) ENSP00000340554.6:p.Tyr14535Ter
ENST00000342175.11:c.43605T>A (TTN) ENSP00000340554.6:p.Tyr14535Ter
ENST00000342992.10:c.62520T>A (TTN) ENSP00000343764.6:p.Tyr20840Ter
ENST00000342992.11:c.62520T>A (TTN) ENSP00000343764.6:p.Tyr20840Ter
ENST00000359218.10:c.43404T>A (TTN) ENSP00000352154.5:p.Tyr14468Ter
ENST00000359218.9:c.43404T>A (TTN) ENSP00000352154.5:p.Tyr14468Ter
ENST00000460472.6:c.43029T>A (TTN) ENSP00000434586.1:p.Tyr14343Ter
ENST00000591111.5:c.65301T>A (TTN) ENSP00000465570.1:p.Tyr21767Ter
ENST00000615779.4:c.65301T>A (TTN) ENSP00000483597.1:p.Tyr21767Ter
XM_011511729.1:c.69321T>A (TTN) XP_011510031.1:p.Tyr23107Ter
XM_011511730.1:c.43215T>A (TTN) XP_011510032.1:p.Tyr14405Ter
XM_011511731.1:c.43074T>A (TTN) XP_011510033.1:p.Tyr14358Ter
XM_017004819.1:c.69117T>A (TTN) XP_016860308.1:p.Tyr23039Ter
XM_017004820.1:c.64515T>A (TTN) XP_016860309.1:p.Tyr21505Ter
XM_017004821.1:c.64512T>A (TTN) XP_016860310.1:p.Tyr21504Ter
XM_017004822.1:c.61554T>A (TTN) XP_016860311.1:p.Tyr20518Ter
XM_017004823.1:c.43170T>A (TTN) XP_016860312.1:p.Tyr14390Ter
XM_024453094.1:c.64665T>A (TTN) XP_024308862.1:p.Tyr21555Ter
XM_024453095.1:c.64662T>A (TTN) XP_024308863.1:p.Tyr21554Ter
XM_024453096.1:c.64095T>A (TTN) XP_024308864.1:p.Tyr21365Ter
XM_024453097.1:c.61437T>A (TTN) XP_024308865.1:p.Tyr20479Ter
XM_024453098.1:c.61356T>A (TTN) XP_024308866.1:p.Tyr20452Ter
XM_024453099.1:c.43119T>A (TTN) XP_024308867.1:p.Tyr14373Ter
XM_024453100.1:c.32973T>A (TTN) XP_024308868.1:p.Tyr10991Ter