Canonical Allele Identifier: CA349492504
Community Standard Title: NM_001267550.2(TTN):c.92603G>A (p.Trp30868Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178549023C>T , CM000664.2:g.178549023C>T GRCh38
NC_000002.11:g.179413750C>T , CM000664.1:g.179413750C>T GRCh37
NC_000002.10:g.179121996C>T NCBI36
NG_011618.3:g.286780G>A , LRG_391:g.286780G>A
NG_051363.1:g.31197C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.92603G>A (TTN) MANE Select NP_001254479.2:p.Trp30868Ter
ENST00000589042.5:c.92603G>A (TTN) MANE Select ENSP00000467141.1:p.Trp30868Ter
NM_001256850.1:c.87680G>A (TTN) NP_001243779.1:p.Trp29227Ter
NM_003319.4:c.65408G>A (TTN) NP_003310.4:p.Trp21803Ter
NM_133378.4:c.84899G>A (TTN) NP_596869.4:p.Trp28300Ter
NM_133432.3:c.65783G>A (TTN) NP_597676.3:p.Trp21928Ter
NM_133437.4:c.65984G>A (TTN) NP_597681.4:p.Trp21995Ter
NR_038271.1:n.447-22277C>T (TTN-AS1)
NR_038272.1:n.2043+6662C>T (TTN-AS1)
ENST00000342175.10:c.65984G>A (TTN) ENSP00000340554.6:p.Trp21995Ter
ENST00000342175.11:c.65984G>A (TTN) ENSP00000340554.6:p.Trp21995Ter
ENST00000342992.10:c.84899G>A (TTN) ENSP00000343764.6:p.Trp28300Ter
ENST00000342992.11:c.84899G>A (TTN) ENSP00000343764.6:p.Trp28300Ter
ENST00000359218.10:c.65783G>A (TTN) ENSP00000352154.5:p.Trp21928Ter
ENST00000359218.9:c.65783G>A (TTN) ENSP00000352154.5:p.Trp21928Ter
ENST00000460472.6:c.65408G>A (TTN) ENSP00000434586.1:p.Trp21803Ter
ENST00000591111.5:c.87680G>A (TTN) ENSP00000465570.1:p.Trp29227Ter
ENST00000615779.4:c.87680G>A (TTN) ENSP00000483597.1:p.Trp29227Ter
XM_011511729.1:c.91700G>A (TTN) XP_011510031.1:p.Trp30567Ter
XM_011511730.1:c.65594G>A (TTN) XP_011510032.1:p.Trp21865Ter
XM_011511731.1:c.65453G>A (TTN) XP_011510033.1:p.Trp21818Ter
XM_017004819.1:c.91496G>A (TTN) XP_016860308.1:p.Trp30499Ter
XM_017004820.1:c.86894G>A (TTN) XP_016860309.1:p.Trp28965Ter
XM_017004821.1:c.86891G>A (TTN) XP_016860310.1:p.Trp28964Ter
XM_017004822.1:c.83933G>A (TTN) XP_016860311.1:p.Trp27978Ter
XM_017004823.1:c.65549G>A (TTN) XP_016860312.1:p.Trp21850Ter
XM_024453094.1:c.87044G>A (TTN) XP_024308862.1:p.Trp29015Ter
XM_024453095.1:c.87041G>A (TTN) XP_024308863.1:p.Trp29014Ter
XM_024453096.1:c.86474G>A (TTN) XP_024308864.1:p.Trp28825Ter
XM_024453097.1:c.83816G>A (TTN) XP_024308865.1:p.Trp27939Ter
XM_024453098.1:c.83735G>A (TTN) XP_024308866.1:p.Trp27912Ter
XM_024453099.1:c.65498G>A (TTN) XP_024308867.1:p.Trp21833Ter
XM_024453100.1:c.55352G>A (TTN) XP_024308868.1:p.Trp18451Ter