Canonical Allele Identifier: CA349545394
Community Standard Title: NM_001267550.2(TTN):c.86251G>T (p.Glu28751Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178559881C>A , CM000664.2:g.178559881C>A GRCh38
NC_000002.11:g.179424608C>A , CM000664.1:g.179424608C>A GRCh37
NC_000002.10:g.179132854C>A NCBI36
NG_011618.3:g.275922G>T , LRG_391:g.275922G>T
NG_051363.1:g.42055C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.86251G>T (TTN) MANE Select NP_001254479.2:p.Glu28751Ter
ENST00000589042.5:c.86251G>T (TTN) MANE Select ENSP00000467141.1:p.Glu28751Ter
NM_001256850.1:c.81328G>T (TTN) NP_001243779.1:p.Glu27110Ter
NM_003319.4:c.59056G>T (TTN) NP_003310.4:p.Glu19686Ter
NM_133378.4:c.78547G>T (TTN) NP_596869.4:p.Glu26183Ter
NM_133432.3:c.59431G>T (TTN) NP_597676.3:p.Glu19811Ter
NM_133437.4:c.59632G>T (TTN) NP_597681.4:p.Glu19878Ter
NR_038271.1:n.447-11419C>A (TTN-AS1)
NR_038272.1:n.2043+17520C>A (TTN-AS1)
ENST00000342175.10:c.59632G>T (TTN) ENSP00000340554.6:p.Glu19878Ter
ENST00000342175.11:c.59632G>T (TTN) ENSP00000340554.6:p.Glu19878Ter
ENST00000342992.10:c.78547G>T (TTN) ENSP00000343764.6:p.Glu26183Ter
ENST00000342992.11:c.78547G>T (TTN) ENSP00000343764.6:p.Glu26183Ter
ENST00000359218.10:c.59431G>T (TTN) ENSP00000352154.5:p.Glu19811Ter
ENST00000359218.9:c.59431G>T (TTN) ENSP00000352154.5:p.Glu19811Ter
ENST00000460472.6:c.59056G>T (TTN) ENSP00000434586.1:p.Glu19686Ter
ENST00000591111.5:c.81328G>T (TTN) ENSP00000465570.1:p.Glu27110Ter
ENST00000615779.4:c.81328G>T (TTN) ENSP00000483597.1:p.Glu27110Ter
XM_011511729.1:c.85348G>T (TTN) XP_011510031.1:p.Glu28450Ter
XM_011511730.1:c.59242G>T (TTN) XP_011510032.1:p.Glu19748Ter
XM_011511731.1:c.59101G>T (TTN) XP_011510033.1:p.Glu19701Ter
XM_017004819.1:c.85144G>T (TTN) XP_016860308.1:p.Glu28382Ter
XM_017004820.1:c.80542G>T (TTN) XP_016860309.1:p.Glu26848Ter
XM_017004821.1:c.80539G>T (TTN) XP_016860310.1:p.Glu26847Ter
XM_017004822.1:c.77581G>T (TTN) XP_016860311.1:p.Glu25861Ter
XM_017004823.1:c.59197G>T (TTN) XP_016860312.1:p.Glu19733Ter
XM_024453094.1:c.80692G>T (TTN) XP_024308862.1:p.Glu26898Ter
XM_024453095.1:c.80689G>T (TTN) XP_024308863.1:p.Glu26897Ter
XM_024453096.1:c.80122G>T (TTN) XP_024308864.1:p.Glu26708Ter
XM_024453097.1:c.77464G>T (TTN) XP_024308865.1:p.Glu25822Ter
XM_024453098.1:c.77383G>T (TTN) XP_024308866.1:p.Glu25795Ter
XM_024453099.1:c.59146G>T (TTN) XP_024308867.1:p.Glu19716Ter
XM_024453100.1:c.49000G>T (TTN) XP_024308868.1:p.Glu16334Ter