Canonical Allele Identifier: CA349468328
Community Standard Title: NM_001267550.2(TTN):c.61847G>A (p.Trp20616Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178589878C>T , CM000664.2:g.178589878C>T GRCh38
NC_000002.11:g.179454605C>T , CM000664.1:g.179454605C>T GRCh37
NC_000002.10:g.179162851C>T NCBI36
NG_011618.3:g.245925G>A , LRG_391:g.245925G>A
NG_051363.1:g.72052C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.61847G>A (TTN) MANE Select NP_001254479.2:p.Trp20616Ter
ENST00000589042.5:c.61847G>A (TTN) MANE Select ENSP00000467141.1:p.Trp20616Ter
NM_001256850.1:c.56924G>A (TTN) NP_001243779.1:p.Trp18975Ter
NM_003319.4:c.34652G>A (TTN) NP_003310.4:p.Trp11551Ter
NM_133378.4:c.54143G>A (TTN) NP_596869.4:p.Trp18048Ter
NM_133432.3:c.35027G>A (TTN) NP_597676.3:p.Trp11676Ter
NM_133437.4:c.35228G>A (TTN) NP_597681.4:p.Trp11743Ter
NR_038271.1:n.597-7718C>T (TTN-AS1)
NR_038272.1:n.3189-1261C>T (TTN-AS1)
ENST00000342175.10:c.35228G>A (TTN) ENSP00000340554.6:p.Trp11743Ter
ENST00000342175.11:c.35228G>A (TTN) ENSP00000340554.6:p.Trp11743Ter
ENST00000342992.10:c.54143G>A (TTN) ENSP00000343764.6:p.Trp18048Ter
ENST00000342992.11:c.54143G>A (TTN) ENSP00000343764.6:p.Trp18048Ter
ENST00000359218.10:c.35027G>A (TTN) ENSP00000352154.5:p.Trp11676Ter
ENST00000359218.9:c.35027G>A (TTN) ENSP00000352154.5:p.Trp11676Ter
ENST00000460472.6:c.34652G>A (TTN) ENSP00000434586.1:p.Trp11551Ter
ENST00000591111.5:c.56924G>A (TTN) ENSP00000465570.1:p.Trp18975Ter
ENST00000615779.4:c.56924G>A (TTN) ENSP00000483597.1:p.Trp18975Ter
XM_011511729.1:c.60944G>A (TTN) XP_011510031.1:p.Trp20315Ter
XM_011511730.1:c.34838G>A (TTN) XP_011510032.1:p.Trp11613Ter
XM_011511731.1:c.34697G>A (TTN) XP_011510033.1:p.Trp11566Ter
XM_017004819.1:c.60740G>A (TTN) XP_016860308.1:p.Trp20247Ter
XM_017004820.1:c.56138G>A (TTN) XP_016860309.1:p.Trp18713Ter
XM_017004821.1:c.56135G>A (TTN) XP_016860310.1:p.Trp18712Ter
XM_017004822.1:c.53177G>A (TTN) XP_016860311.1:p.Trp17726Ter
XM_017004823.1:c.34793G>A (TTN) XP_016860312.1:p.Trp11598Ter
XM_024453094.1:c.56288G>A (TTN) XP_024308862.1:p.Trp18763Ter
XM_024453095.1:c.56285G>A (TTN) XP_024308863.1:p.Trp18762Ter
XM_024453096.1:c.55718G>A (TTN) XP_024308864.1:p.Trp18573Ter
XM_024453097.1:c.53060G>A (TTN) XP_024308865.1:p.Trp17687Ter
XM_024453098.1:c.52979G>A (TTN) XP_024308866.1:p.Trp17660Ter
XM_024453099.1:c.34742G>A (TTN) XP_024308867.1:p.Trp11581Ter
XM_024453100.1:c.24596G>A (TTN) XP_024308868.1:p.Trp8199Ter