Canonical Allele Identifier: CA349504772
Community Standard Title: NM_001267550.2(TTN):c.58545T>A (p.Tyr19515Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178593755A>T , CM000664.2:g.178593755A>T GRCh38
NC_000002.11:g.179458482A>T , CM000664.1:g.179458482A>T GRCh37
NC_000002.10:g.179166728A>T NCBI36
NG_011618.3:g.242048T>A , LRG_391:g.242048T>A
NG_051363.1:g.75929A>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.58545T>A (TTN) MANE Select NP_001254479.2:p.Tyr19515Ter
ENST00000589042.5:c.58545T>A (TTN) MANE Select ENSP00000467141.1:p.Tyr19515Ter
NM_001256850.1:c.53622T>A (TTN) NP_001243779.1:p.Tyr17874Ter
NM_003319.4:c.31350T>A (TTN) NP_003310.4:p.Tyr10450Ter
NM_133378.4:c.50841T>A (TTN) NP_596869.4:p.Tyr16947Ter
NM_133432.3:c.31725T>A (TTN) NP_597676.3:p.Tyr10575Ter
NM_133437.4:c.31926T>A (TTN) NP_597681.4:p.Tyr10642Ter
NR_038271.1:n.597-3841A>T (TTN-AS1)
NR_038272.1:n.3364+2441A>T (TTN-AS1)
ENST00000342175.10:c.31926T>A (TTN) ENSP00000340554.6:p.Tyr10642Ter
ENST00000342175.11:c.31926T>A (TTN) ENSP00000340554.6:p.Tyr10642Ter
ENST00000342992.10:c.50841T>A (TTN) ENSP00000343764.6:p.Tyr16947Ter
ENST00000342992.11:c.50841T>A (TTN) ENSP00000343764.6:p.Tyr16947Ter
ENST00000359218.10:c.31725T>A (TTN) ENSP00000352154.5:p.Tyr10575Ter
ENST00000359218.9:c.31725T>A (TTN) ENSP00000352154.5:p.Tyr10575Ter
ENST00000460472.6:c.31350T>A (TTN) ENSP00000434586.1:p.Tyr10450Ter
ENST00000591111.5:c.53622T>A (TTN) ENSP00000465570.1:p.Tyr17874Ter
ENST00000615779.4:c.53622T>A (TTN) ENSP00000483597.1:p.Tyr17874Ter
XM_011511729.1:c.57642T>A (TTN) XP_011510031.1:p.Tyr19214Ter
XM_011511730.1:c.31536T>A (TTN) XP_011510032.1:p.Tyr10512Ter
XM_011511731.1:c.31395T>A (TTN) XP_011510033.1:p.Tyr10465Ter
XM_017004819.1:c.57438T>A (TTN) XP_016860308.1:p.Tyr19146Ter
XM_017004820.1:c.52836T>A (TTN) XP_016860309.1:p.Tyr17612Ter
XM_017004821.1:c.52833T>A (TTN) XP_016860310.1:p.Tyr17611Ter
XM_017004822.1:c.49875T>A (TTN) XP_016860311.1:p.Tyr16625Ter
XM_017004823.1:c.31491T>A (TTN) XP_016860312.1:p.Tyr10497Ter
XM_024453094.1:c.52986T>A (TTN) XP_024308862.1:p.Tyr17662Ter
XM_024453095.1:c.52983T>A (TTN) XP_024308863.1:p.Tyr17661Ter
XM_024453096.1:c.52416T>A (TTN) XP_024308864.1:p.Tyr17472Ter
XM_024453097.1:c.49758T>A (TTN) XP_024308865.1:p.Tyr16586Ter
XM_024453098.1:c.49677T>A (TTN) XP_024308866.1:p.Tyr16559Ter
XM_024453099.1:c.31440T>A (TTN) XP_024308867.1:p.Tyr10480Ter
XM_024453100.1:c.21294T>A (TTN) XP_024308868.1:p.Tyr7098Ter