Canonical Allele Identifier: CA349495018
Community Standard Title: NM_001267550.2(TTN):c.92017A>T (p.Lys30673Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178549705T>A , CM000664.2:g.178549705T>A GRCh38
NC_000002.11:g.179414432T>A , CM000664.1:g.179414432T>A GRCh37
NC_000002.10:g.179122678T>A NCBI36
NG_011618.3:g.286098A>T , LRG_391:g.286098A>T
NG_051363.1:g.31879T>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.92017A>T (TTN) MANE Select NP_001254479.2:p.Lys30673Ter
ENST00000589042.5:c.92017A>T (TTN) MANE Select ENSP00000467141.1:p.Lys30673Ter
NM_001256850.1:c.87094A>T (TTN) NP_001243779.1:p.Lys29032Ter
NM_003319.4:c.64822A>T (TTN) NP_003310.4:p.Lys21608Ter
NM_133378.4:c.84313A>T (TTN) NP_596869.4:p.Lys28105Ter
NM_133432.3:c.65197A>T (TTN) NP_597676.3:p.Lys21733Ter
NM_133437.4:c.65398A>T (TTN) NP_597681.4:p.Lys21800Ter
NR_038271.1:n.447-21595T>A (TTN-AS1)
NR_038272.1:n.2043+7344T>A (TTN-AS1)
ENST00000342175.10:c.65398A>T (TTN) ENSP00000340554.6:p.Lys21800Ter
ENST00000342175.11:c.65398A>T (TTN) ENSP00000340554.6:p.Lys21800Ter
ENST00000342992.10:c.84313A>T (TTN) ENSP00000343764.6:p.Lys28105Ter
ENST00000342992.11:c.84313A>T (TTN) ENSP00000343764.6:p.Lys28105Ter
ENST00000359218.10:c.65197A>T (TTN) ENSP00000352154.5:p.Lys21733Ter
ENST00000359218.9:c.65197A>T (TTN) ENSP00000352154.5:p.Lys21733Ter
ENST00000460472.6:c.64822A>T (TTN) ENSP00000434586.1:p.Lys21608Ter
ENST00000591111.5:c.87094A>T (TTN) ENSP00000465570.1:p.Lys29032Ter
ENST00000615779.4:c.87094A>T (TTN) ENSP00000483597.1:p.Lys29032Ter
XM_011511729.1:c.91114A>T (TTN) XP_011510031.1:p.Lys30372Ter
XM_011511730.1:c.65008A>T (TTN) XP_011510032.1:p.Lys21670Ter
XM_011511731.1:c.64867A>T (TTN) XP_011510033.1:p.Lys21623Ter
XM_017004819.1:c.90910A>T (TTN) XP_016860308.1:p.Lys30304Ter
XM_017004820.1:c.86308A>T (TTN) XP_016860309.1:p.Lys28770Ter
XM_017004821.1:c.86305A>T (TTN) XP_016860310.1:p.Lys28769Ter
XM_017004822.1:c.83347A>T (TTN) XP_016860311.1:p.Lys27783Ter
XM_017004823.1:c.64963A>T (TTN) XP_016860312.1:p.Lys21655Ter
XM_024453094.1:c.86458A>T (TTN) XP_024308862.1:p.Lys28820Ter
XM_024453095.1:c.86455A>T (TTN) XP_024308863.1:p.Lys28819Ter
XM_024453096.1:c.85888A>T (TTN) XP_024308864.1:p.Lys28630Ter
XM_024453097.1:c.83230A>T (TTN) XP_024308865.1:p.Lys27744Ter
XM_024453098.1:c.83149A>T (TTN) XP_024308866.1:p.Lys27717Ter
XM_024453099.1:c.64912A>T (TTN) XP_024308867.1:p.Lys21638Ter
XM_024453100.1:c.54766A>T (TTN) XP_024308868.1:p.Lys18256Ter