Canonical Allele Identifier: CA349611796
Community Standard Title: NM_001267550.2(TTN):c.48181G>T (p.Glu16061Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178616610C>A , CM000664.2:g.178616610C>A GRCh38
NC_000002.11:g.179481337C>A , CM000664.1:g.179481337C>A GRCh37
NC_000002.10:g.179189582C>A NCBI36
NG_011618.3:g.219193G>T , LRG_391:g.219193G>T
NG_051363.1:g.98784C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.48181G>T (TTN) MANE Select NP_001254479.2:p.Glu16061Ter
ENST00000589042.5:c.48181G>T (TTN) MANE Select ENSP00000467141.1:p.Glu16061Ter
NM_001256850.1:c.43258G>T (TTN) NP_001243779.1:p.Glu14420Ter
NM_003319.4:c.20986G>T (TTN) NP_003310.4:p.Glu6996Ter
NM_133378.4:c.40477G>T (TTN) NP_596869.4:p.Glu13493Ter
NM_133432.3:c.21361G>T (TTN) NP_597676.3:p.Glu7121Ter
NM_133437.4:c.21562G>T (TTN) NP_597681.4:p.Glu7188Ter
NR_038271.1:n.1604+1236C>A (TTN-AS1)
ENST00000342175.10:c.21562G>T (TTN) ENSP00000340554.6:p.Glu7188Ter
ENST00000342175.11:c.21562G>T (TTN) ENSP00000340554.6:p.Glu7188Ter
ENST00000342992.10:c.40477G>T (TTN) ENSP00000343764.6:p.Glu13493Ter
ENST00000342992.11:c.40477G>T (TTN) ENSP00000343764.6:p.Glu13493Ter
ENST00000359218.10:c.21361G>T (TTN) ENSP00000352154.5:p.Glu7121Ter
ENST00000359218.9:c.21361G>T (TTN) ENSP00000352154.5:p.Glu7121Ter
ENST00000460472.6:c.20986G>T (TTN) ENSP00000434586.1:p.Glu6996Ter
ENST00000591111.5:c.43258G>T (TTN) ENSP00000465570.1:p.Glu14420Ter
ENST00000615779.4:c.43258G>T (TTN) ENSP00000483597.1:p.Glu14420Ter
XM_011511729.1:c.47278G>T (TTN) XP_011510031.1:p.Glu15760Ter
XM_011511730.1:c.21172G>T (TTN) XP_011510032.1:p.Glu7058Ter
XM_011511731.1:c.21031G>T (TTN) XP_011510033.1:p.Glu7011Ter
XM_017004819.1:c.47074G>T (TTN) XP_016860308.1:p.Glu15692Ter
XM_017004820.1:c.42472G>T (TTN) XP_016860309.1:p.Glu14158Ter
XM_017004821.1:c.42469G>T (TTN) XP_016860310.1:p.Glu14157Ter
XM_017004822.1:c.39511G>T (TTN) XP_016860311.1:p.Glu13171Ter
XM_017004823.1:c.21127G>T (TTN) XP_016860312.1:p.Glu7043Ter
XM_024453094.1:c.42622G>T (TTN) XP_024308862.1:p.Glu14208Ter
XM_024453095.1:c.42619G>T (TTN) XP_024308863.1:p.Glu14207Ter
XM_024453096.1:c.42052G>T (TTN) XP_024308864.1:p.Glu14018Ter
XM_024453097.1:c.39394G>T (TTN) XP_024308865.1:p.Glu13132Ter
XM_024453098.1:c.39313G>T (TTN) XP_024308866.1:p.Glu13105Ter
XM_024453099.1:c.21076G>T (TTN) XP_024308867.1:p.Glu7026Ter
XM_024453100.1:c.10930G>T (TTN) XP_024308868.1:p.Glu3644Ter