Canonical Allele Identifier: CA349567579
Community Standard Title: NM_001267550.2(TTN):c.53182G>T (p.Glu17728Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178607506C>A , CM000664.2:g.178607506C>A GRCh38
NC_000002.11:g.179472233C>A , CM000664.1:g.179472233C>A GRCh37
NC_000002.10:g.179180478C>A NCBI36
NG_011618.3:g.228297G>T , LRG_391:g.228297G>T
NG_051363.1:g.89680C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.53182G>T (TTN) MANE Select NP_001254479.2:p.Glu17728Ter
ENST00000589042.5:c.53182G>T (TTN) MANE Select ENSP00000467141.1:p.Glu17728Ter
NM_001256850.1:c.48259G>T (TTN) NP_001243779.1:p.Glu16087Ter
NM_003319.4:c.25987G>T (TTN) NP_003310.4:p.Glu8663Ter
NM_133378.4:c.45478G>T (TTN) NP_596869.4:p.Glu15160Ter
NM_133432.3:c.26362G>T (TTN) NP_597676.3:p.Glu8788Ter
NM_133437.4:c.26563G>T (TTN) NP_597681.4:p.Glu8855Ter
NR_038271.1:n.683-661C>A (TTN-AS1)
ENST00000342175.10:c.26563G>T (TTN) ENSP00000340554.6:p.Glu8855Ter
ENST00000342175.11:c.26563G>T (TTN) ENSP00000340554.6:p.Glu8855Ter
ENST00000342992.10:c.45478G>T (TTN) ENSP00000343764.6:p.Glu15160Ter
ENST00000342992.11:c.45478G>T (TTN) ENSP00000343764.6:p.Glu15160Ter
ENST00000359218.10:c.26362G>T (TTN) ENSP00000352154.5:p.Glu8788Ter
ENST00000359218.9:c.26362G>T (TTN) ENSP00000352154.5:p.Glu8788Ter
ENST00000460472.6:c.25987G>T (TTN) ENSP00000434586.1:p.Glu8663Ter
ENST00000591111.5:c.48259G>T (TTN) ENSP00000465570.1:p.Glu16087Ter
ENST00000615779.4:c.48259G>T (TTN) ENSP00000483597.1:p.Glu16087Ter
XM_011511729.1:c.52279G>T (TTN) XP_011510031.1:p.Glu17427Ter
XM_011511730.1:c.26173G>T (TTN) XP_011510032.1:p.Glu8725Ter
XM_011511731.1:c.26032G>T (TTN) XP_011510033.1:p.Glu8678Ter
XM_017004819.1:c.52075G>T (TTN) XP_016860308.1:p.Glu17359Ter
XM_017004820.1:c.47473G>T (TTN) XP_016860309.1:p.Glu15825Ter
XM_017004821.1:c.47470G>T (TTN) XP_016860310.1:p.Glu15824Ter
XM_017004822.1:c.44512G>T (TTN) XP_016860311.1:p.Glu14838Ter
XM_017004823.1:c.26128G>T (TTN) XP_016860312.1:p.Glu8710Ter
XM_024453094.1:c.47623G>T (TTN) XP_024308862.1:p.Glu15875Ter
XM_024453095.1:c.47620G>T (TTN) XP_024308863.1:p.Glu15874Ter
XM_024453096.1:c.47053G>T (TTN) XP_024308864.1:p.Glu15685Ter
XM_024453097.1:c.44395G>T (TTN) XP_024308865.1:p.Glu14799Ter
XM_024453098.1:c.44314G>T (TTN) XP_024308866.1:p.Glu14772Ter
XM_024453099.1:c.26077G>T (TTN) XP_024308867.1:p.Glu8693Ter
XM_024453100.1:c.15931G>T (TTN) XP_024308868.1:p.Glu5311Ter