Canonical Allele Identifier: CA349478227
Community Standard Title: NM_001267550.2(TTN):c.94067G>A (p.Trp31356Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178547559C>T , CM000664.2:g.178547559C>T GRCh38
NC_000002.11:g.179412286C>T , CM000664.1:g.179412286C>T GRCh37
NC_000002.10:g.179120532C>T NCBI36
NG_011618.3:g.288244G>A , LRG_391:g.288244G>A
NG_051363.1:g.29733C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.94067G>A (TTN) MANE Select NP_001254479.2:p.Trp31356Ter
ENST00000589042.5:c.94067G>A (TTN) MANE Select ENSP00000467141.1:p.Trp31356Ter
NM_001256850.1:c.89144G>A (TTN) NP_001243779.1:p.Trp29715Ter
NM_003319.4:c.66872G>A (TTN) NP_003310.4:p.Trp22291Ter
NM_133378.4:c.86363G>A (TTN) NP_596869.4:p.Trp28788Ter
NM_133432.3:c.67247G>A (TTN) NP_597676.3:p.Trp22416Ter
NM_133437.4:c.67448G>A (TTN) NP_597681.4:p.Trp22483Ter
NR_038271.1:n.447-23741C>T (TTN-AS1)
NR_038272.1:n.2043+5198C>T (TTN-AS1)
ENST00000342175.10:c.67448G>A (TTN) ENSP00000340554.6:p.Trp22483Ter
ENST00000342175.11:c.67448G>A (TTN) ENSP00000340554.6:p.Trp22483Ter
ENST00000342992.10:c.86363G>A (TTN) ENSP00000343764.6:p.Trp28788Ter
ENST00000342992.11:c.86363G>A (TTN) ENSP00000343764.6:p.Trp28788Ter
ENST00000359218.10:c.67247G>A (TTN) ENSP00000352154.5:p.Trp22416Ter
ENST00000359218.9:c.67247G>A (TTN) ENSP00000352154.5:p.Trp22416Ter
ENST00000460472.6:c.66872G>A (TTN) ENSP00000434586.1:p.Trp22291Ter
ENST00000591111.5:c.89144G>A (TTN) ENSP00000465570.1:p.Trp29715Ter
ENST00000615779.4:c.89144G>A (TTN) ENSP00000483597.1:p.Trp29715Ter
XM_011511729.1:c.93164G>A (TTN) XP_011510031.1:p.Trp31055Ter
XM_011511730.1:c.67058G>A (TTN) XP_011510032.1:p.Trp22353Ter
XM_011511731.1:c.66917G>A (TTN) XP_011510033.1:p.Trp22306Ter
XM_017004819.1:c.92960G>A (TTN) XP_016860308.1:p.Trp30987Ter
XM_017004820.1:c.88358G>A (TTN) XP_016860309.1:p.Trp29453Ter
XM_017004821.1:c.88355G>A (TTN) XP_016860310.1:p.Trp29452Ter
XM_017004822.1:c.85397G>A (TTN) XP_016860311.1:p.Trp28466Ter
XM_017004823.1:c.67013G>A (TTN) XP_016860312.1:p.Trp22338Ter
XM_024453094.1:c.88508G>A (TTN) XP_024308862.1:p.Trp29503Ter
XM_024453095.1:c.88505G>A (TTN) XP_024308863.1:p.Trp29502Ter
XM_024453096.1:c.87938G>A (TTN) XP_024308864.1:p.Trp29313Ter
XM_024453097.1:c.85280G>A (TTN) XP_024308865.1:p.Trp28427Ter
XM_024453098.1:c.85199G>A (TTN) XP_024308866.1:p.Trp28400Ter
XM_024453099.1:c.66962G>A (TTN) XP_024308867.1:p.Trp22321Ter
XM_024453100.1:c.56816G>A (TTN) XP_024308868.1:p.Trp18939Ter