Canonical Allele Identifier: CA60973642
Community Standard Title: NM_001267550.2(TTN):c.57692G>A (p.Trp19231Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178595662C>T , CM000664.2:g.178595662C>T GRCh38
NC_000002.11:g.179460389C>T , CM000664.1:g.179460389C>T GRCh37
NC_000002.10:g.179168635C>T NCBI36
NG_011618.3:g.240141G>A , LRG_391:g.240141G>A
NG_051363.1:g.77836C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.57692G>A (TTN) MANE Select NP_001254479.2:p.Trp19231Ter
ENST00000589042.5:c.57692G>A (TTN) MANE Select ENSP00000467141.1:p.Trp19231Ter
NM_001256850.1:c.52769G>A (TTN) NP_001243779.1:p.Trp17590Ter
NM_003319.4:c.30497G>A (TTN) NP_003310.4:p.Trp10166Ter
NM_133378.4:c.49988G>A (TTN) NP_596869.4:p.Trp16663Ter
NM_133432.3:c.30872G>A (TTN) NP_597676.3:p.Trp10291Ter
NM_133437.4:c.31073G>A (TTN) NP_597681.4:p.Trp10358Ter
NR_038271.1:n.597-1934C>T (TTN-AS1)
NR_038272.1:n.3365-1934C>T (TTN-AS1)
ENST00000342175.10:c.31073G>A (TTN) ENSP00000340554.6:p.Trp10358Ter
ENST00000342175.11:c.31073G>A (TTN) ENSP00000340554.6:p.Trp10358Ter
ENST00000342992.10:c.49988G>A (TTN) ENSP00000343764.6:p.Trp16663Ter
ENST00000342992.11:c.49988G>A (TTN) ENSP00000343764.6:p.Trp16663Ter
ENST00000359218.10:c.30872G>A (TTN) ENSP00000352154.5:p.Trp10291Ter
ENST00000359218.9:c.30872G>A (TTN) ENSP00000352154.5:p.Trp10291Ter
ENST00000460472.6:c.30497G>A (TTN) ENSP00000434586.1:p.Trp10166Ter
ENST00000591111.5:c.52769G>A (TTN) ENSP00000465570.1:p.Trp17590Ter
ENST00000615779.4:c.52769G>A (TTN) ENSP00000483597.1:p.Trp17590Ter
XM_011511729.1:c.56789G>A (TTN) XP_011510031.1:p.Trp18930Ter
XM_011511730.1:c.30683G>A (TTN) XP_011510032.1:p.Trp10228Ter
XM_011511731.1:c.30542G>A (TTN) XP_011510033.1:p.Trp10181Ter
XM_017004819.1:c.56585G>A (TTN) XP_016860308.1:p.Trp18862Ter
XM_017004820.1:c.51983G>A (TTN) XP_016860309.1:p.Trp17328Ter
XM_017004821.1:c.51980G>A (TTN) XP_016860310.1:p.Trp17327Ter
XM_017004822.1:c.49022G>A (TTN) XP_016860311.1:p.Trp16341Ter
XM_017004823.1:c.30638G>A (TTN) XP_016860312.1:p.Trp10213Ter
XM_024453094.1:c.52133G>A (TTN) XP_024308862.1:p.Trp17378Ter
XM_024453095.1:c.52130G>A (TTN) XP_024308863.1:p.Trp17377Ter
XM_024453096.1:c.51563G>A (TTN) XP_024308864.1:p.Trp17188Ter
XM_024453097.1:c.48905G>A (TTN) XP_024308865.1:p.Trp16302Ter
XM_024453098.1:c.48824G>A (TTN) XP_024308866.1:p.Trp16275Ter
XM_024453099.1:c.30587G>A (TTN) XP_024308867.1:p.Trp10196Ter
XM_024453100.1:c.20441G>A (TTN) XP_024308868.1:p.Trp6814Ter