Canonical Allele Identifier: CA349587727
Community Standard Title: NM_001267550.2(TTN):c.80578G>T (p.Gly26860Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178565554C>A , CM000664.2:g.178565554C>A GRCh38
NC_000002.11:g.179430281C>A , CM000664.1:g.179430281C>A GRCh37
NC_000002.10:g.179138527C>A NCBI36
NG_011618.3:g.270249G>T , LRG_391:g.270249G>T
NG_051363.1:g.47728C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.80578G>T (TTN) MANE Select NP_001254479.2:p.Gly26860Ter
ENST00000589042.5:c.80578G>T (TTN) MANE Select ENSP00000467141.1:p.Gly26860Ter
NM_001256850.1:c.75655G>T (TTN) NP_001243779.1:p.Gly25219Ter
NM_003319.4:c.53383G>T (TTN) NP_003310.4:p.Gly17795Ter
NM_133378.4:c.72874G>T (TTN) NP_596869.4:p.Gly24292Ter
NM_133432.3:c.53758G>T (TTN) NP_597676.3:p.Gly17920Ter
NM_133437.4:c.53959G>T (TTN) NP_597681.4:p.Gly17987Ter
NR_038271.1:n.447-5746C>A (TTN-AS1)
NR_038272.1:n.2044-17018C>A (TTN-AS1)
ENST00000342175.10:c.53959G>T (TTN) ENSP00000340554.6:p.Gly17987Ter
ENST00000342175.11:c.53959G>T (TTN) ENSP00000340554.6:p.Gly17987Ter
ENST00000342992.10:c.72874G>T (TTN) ENSP00000343764.6:p.Gly24292Ter
ENST00000342992.11:c.72874G>T (TTN) ENSP00000343764.6:p.Gly24292Ter
ENST00000359218.10:c.53758G>T (TTN) ENSP00000352154.5:p.Gly17920Ter
ENST00000359218.9:c.53758G>T (TTN) ENSP00000352154.5:p.Gly17920Ter
ENST00000460472.6:c.53383G>T (TTN) ENSP00000434586.1:p.Gly17795Ter
ENST00000591111.5:c.75655G>T (TTN) ENSP00000465570.1:p.Gly25219Ter
ENST00000615779.4:c.75655G>T (TTN) ENSP00000483597.1:p.Gly25219Ter
XM_011511729.1:c.79675G>T (TTN) XP_011510031.1:p.Gly26559Ter
XM_011511730.1:c.53569G>T (TTN) XP_011510032.1:p.Gly17857Ter
XM_011511731.1:c.53428G>T (TTN) XP_011510033.1:p.Gly17810Ter
XM_017004819.1:c.79471G>T (TTN) XP_016860308.1:p.Gly26491Ter
XM_017004820.1:c.74869G>T (TTN) XP_016860309.1:p.Gly24957Ter
XM_017004821.1:c.74866G>T (TTN) XP_016860310.1:p.Gly24956Ter
XM_017004822.1:c.71908G>T (TTN) XP_016860311.1:p.Gly23970Ter
XM_017004823.1:c.53524G>T (TTN) XP_016860312.1:p.Gly17842Ter
XM_024453094.1:c.75019G>T (TTN) XP_024308862.1:p.Gly25007Ter
XM_024453095.1:c.75016G>T (TTN) XP_024308863.1:p.Gly25006Ter
XM_024453096.1:c.74449G>T (TTN) XP_024308864.1:p.Gly24817Ter
XM_024453097.1:c.71791G>T (TTN) XP_024308865.1:p.Gly23931Ter
XM_024453098.1:c.71710G>T (TTN) XP_024308866.1:p.Gly23904Ter
XM_024453099.1:c.53473G>T (TTN) XP_024308867.1:p.Gly17825Ter
XM_024453100.1:c.43327G>T (TTN) XP_024308868.1:p.Gly14443Ter