Canonical Allele Identifier: CA349472401
Community Standard Title: NM_001267550.2(TTN):c.94581G>A (p.Trp31527Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178546847C>T , CM000664.2:g.178546847C>T GRCh38
NC_000002.11:g.179411574C>T , CM000664.1:g.179411574C>T GRCh37
NC_000002.10:g.179119820C>T NCBI36
NG_011618.3:g.288956G>A , LRG_391:g.288956G>A
NG_051363.1:g.29021C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.94581G>A (TTN) MANE Select NP_001254479.2:p.Trp31527Ter
ENST00000589042.5:c.94581G>A (TTN) MANE Select ENSP00000467141.1:p.Trp31527Ter
NM_001256850.1:c.89658G>A (TTN) NP_001243779.1:p.Trp29886Ter
NM_003319.4:c.67386G>A (TTN) NP_003310.4:p.Trp22462Ter
NM_133378.4:c.86877G>A (TTN) NP_596869.4:p.Trp28959Ter
NM_133432.3:c.67761G>A (TTN) NP_597676.3:p.Trp22587Ter
NM_133437.4:c.67962G>A (TTN) NP_597681.4:p.Trp22654Ter
NR_038271.1:n.446+23211C>T (TTN-AS1)
NR_038272.1:n.2043+4486C>T (TTN-AS1)
ENST00000342175.10:c.67962G>A (TTN) ENSP00000340554.6:p.Trp22654Ter
ENST00000342175.11:c.67962G>A (TTN) ENSP00000340554.6:p.Trp22654Ter
ENST00000342992.10:c.86877G>A (TTN) ENSP00000343764.6:p.Trp28959Ter
ENST00000342992.11:c.86877G>A (TTN) ENSP00000343764.6:p.Trp28959Ter
ENST00000359218.10:c.67761G>A (TTN) ENSP00000352154.5:p.Trp22587Ter
ENST00000359218.9:c.67761G>A (TTN) ENSP00000352154.5:p.Trp22587Ter
ENST00000460472.6:c.67386G>A (TTN) ENSP00000434586.1:p.Trp22462Ter
ENST00000591111.5:c.89658G>A (TTN) ENSP00000465570.1:p.Trp29886Ter
ENST00000615779.4:c.89658G>A (TTN) ENSP00000483597.1:p.Trp29886Ter
XM_011511729.1:c.93678G>A (TTN) XP_011510031.1:p.Trp31226Ter
XM_011511730.1:c.67572G>A (TTN) XP_011510032.1:p.Trp22524Ter
XM_011511731.1:c.67431G>A (TTN) XP_011510033.1:p.Trp22477Ter
XM_017004819.1:c.93474G>A (TTN) XP_016860308.1:p.Trp31158Ter
XM_017004820.1:c.88872G>A (TTN) XP_016860309.1:p.Trp29624Ter
XM_017004821.1:c.88869G>A (TTN) XP_016860310.1:p.Trp29623Ter
XM_017004822.1:c.85911G>A (TTN) XP_016860311.1:p.Trp28637Ter
XM_017004823.1:c.67527G>A (TTN) XP_016860312.1:p.Trp22509Ter
XM_024453094.1:c.89022G>A (TTN) XP_024308862.1:p.Trp29674Ter
XM_024453095.1:c.89019G>A (TTN) XP_024308863.1:p.Trp29673Ter
XM_024453096.1:c.88452G>A (TTN) XP_024308864.1:p.Trp29484Ter
XM_024453097.1:c.85794G>A (TTN) XP_024308865.1:p.Trp28598Ter
XM_024453098.1:c.85713G>A (TTN) XP_024308866.1:p.Trp28571Ter
XM_024453099.1:c.67476G>A (TTN) XP_024308867.1:p.Trp22492Ter
XM_024453100.1:c.57330G>A (TTN) XP_024308868.1:p.Trp19110Ter