Canonical Allele Identifier: CA349570825
Community Standard Title: NM_001267550.2(TTN):c.82888C>T (p.Gln27630Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178563244G>A , CM000664.2:g.178563244G>A GRCh38
NC_000002.11:g.179427971G>A , CM000664.1:g.179427971G>A GRCh37
NC_000002.10:g.179136217G>A NCBI36
NG_011618.3:g.272559C>T , LRG_391:g.272559C>T
NG_051363.1:g.45418G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.82888C>T (TTN) MANE Select NP_001254479.2:p.Gln27630Ter
ENST00000589042.5:c.82888C>T (TTN) MANE Select ENSP00000467141.1:p.Gln27630Ter
NM_001256850.1:c.77965C>T (TTN) NP_001243779.1:p.Gln25989Ter
NM_003319.4:c.55693C>T (TTN) NP_003310.4:p.Gln18565Ter
NM_133378.4:c.75184C>T (TTN) NP_596869.4:p.Gln25062Ter
NM_133432.3:c.56068C>T (TTN) NP_597676.3:p.Gln18690Ter
NM_133437.4:c.56269C>T (TTN) NP_597681.4:p.Gln18757Ter
NR_038271.1:n.447-8056G>A (TTN-AS1)
NR_038272.1:n.2044-19328G>A (TTN-AS1)
ENST00000342175.10:c.56269C>T (TTN) ENSP00000340554.6:p.Gln18757Ter
ENST00000342175.11:c.56269C>T (TTN) ENSP00000340554.6:p.Gln18757Ter
ENST00000342992.10:c.75184C>T (TTN) ENSP00000343764.6:p.Gln25062Ter
ENST00000342992.11:c.75184C>T (TTN) ENSP00000343764.6:p.Gln25062Ter
ENST00000359218.10:c.56068C>T (TTN) ENSP00000352154.5:p.Gln18690Ter
ENST00000359218.9:c.56068C>T (TTN) ENSP00000352154.5:p.Gln18690Ter
ENST00000460472.6:c.55693C>T (TTN) ENSP00000434586.1:p.Gln18565Ter
ENST00000591111.5:c.77965C>T (TTN) ENSP00000465570.1:p.Gln25989Ter
ENST00000615779.4:c.77965C>T (TTN) ENSP00000483597.1:p.Gln25989Ter
XM_011511729.1:c.81985C>T (TTN) XP_011510031.1:p.Gln27329Ter
XM_011511730.1:c.55879C>T (TTN) XP_011510032.1:p.Gln18627Ter
XM_011511731.1:c.55738C>T (TTN) XP_011510033.1:p.Gln18580Ter
XM_017004819.1:c.81781C>T (TTN) XP_016860308.1:p.Gln27261Ter
XM_017004820.1:c.77179C>T (TTN) XP_016860309.1:p.Gln25727Ter
XM_017004821.1:c.77176C>T (TTN) XP_016860310.1:p.Gln25726Ter
XM_017004822.1:c.74218C>T (TTN) XP_016860311.1:p.Gln24740Ter
XM_017004823.1:c.55834C>T (TTN) XP_016860312.1:p.Gln18612Ter
XM_024453094.1:c.77329C>T (TTN) XP_024308862.1:p.Gln25777Ter
XM_024453095.1:c.77326C>T (TTN) XP_024308863.1:p.Gln25776Ter
XM_024453096.1:c.76759C>T (TTN) XP_024308864.1:p.Gln25587Ter
XM_024453097.1:c.74101C>T (TTN) XP_024308865.1:p.Gln24701Ter
XM_024453098.1:c.74020C>T (TTN) XP_024308866.1:p.Gln24674Ter
XM_024453099.1:c.55783C>T (TTN) XP_024308867.1:p.Gln18595Ter
XM_024453100.1:c.45637C>T (TTN) XP_024308868.1:p.Gln15213Ter