Canonical Allele Identifier: CA349541723
Community Standard Title: NM_001267550.2(TTN):c.55399C>T (p.Gln18467Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178601691G>A , CM000664.2:g.178601691G>A GRCh38
NC_000002.11:g.179466418G>A , CM000664.1:g.179466418G>A GRCh37
NC_000002.10:g.179174663G>A NCBI36
NG_011618.3:g.234112C>T , LRG_391:g.234112C>T
NG_051363.1:g.83865G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.55399C>T (TTN) MANE Select NP_001254479.2:p.Gln18467Ter
ENST00000589042.5:c.55399C>T (TTN) MANE Select ENSP00000467141.1:p.Gln18467Ter
NM_001256850.1:c.50476C>T (TTN) NP_001243779.1:p.Gln16826Ter
NM_003319.4:c.28204C>T (TTN) NP_003310.4:p.Gln9402Ter
NM_133378.4:c.47695C>T (TTN) NP_596869.4:p.Gln15899Ter
NM_133432.3:c.28579C>T (TTN) NP_597676.3:p.Gln9527Ter
NM_133437.4:c.28780C>T (TTN) NP_597681.4:p.Gln9594Ter
NR_038271.1:n.682+4010G>A (TTN-AS1)
NR_038272.1:n.3917+1024G>A (TTN-AS1)
ENST00000342175.10:c.28780C>T (TTN) ENSP00000340554.6:p.Gln9594Ter
ENST00000342175.11:c.28780C>T (TTN) ENSP00000340554.6:p.Gln9594Ter
ENST00000342992.10:c.47695C>T (TTN) ENSP00000343764.6:p.Gln15899Ter
ENST00000342992.11:c.47695C>T (TTN) ENSP00000343764.6:p.Gln15899Ter
ENST00000359218.10:c.28579C>T (TTN) ENSP00000352154.5:p.Gln9527Ter
ENST00000359218.9:c.28579C>T (TTN) ENSP00000352154.5:p.Gln9527Ter
ENST00000460472.6:c.28204C>T (TTN) ENSP00000434586.1:p.Gln9402Ter
ENST00000591111.5:c.50476C>T (TTN) ENSP00000465570.1:p.Gln16826Ter
ENST00000615779.4:c.50476C>T (TTN) ENSP00000483597.1:p.Gln16826Ter
XM_011511729.1:c.54496C>T (TTN) XP_011510031.1:p.Gln18166Ter
XM_011511730.1:c.28390C>T (TTN) XP_011510032.1:p.Gln9464Ter
XM_011511731.1:c.28249C>T (TTN) XP_011510033.1:p.Gln9417Ter
XM_017004819.1:c.54292C>T (TTN) XP_016860308.1:p.Gln18098Ter
XM_017004820.1:c.49690C>T (TTN) XP_016860309.1:p.Gln16564Ter
XM_017004821.1:c.49687C>T (TTN) XP_016860310.1:p.Gln16563Ter
XM_017004822.1:c.46729C>T (TTN) XP_016860311.1:p.Gln15577Ter
XM_017004823.1:c.28345C>T (TTN) XP_016860312.1:p.Gln9449Ter
XM_024453094.1:c.49840C>T (TTN) XP_024308862.1:p.Gln16614Ter
XM_024453095.1:c.49837C>T (TTN) XP_024308863.1:p.Gln16613Ter
XM_024453096.1:c.49270C>T (TTN) XP_024308864.1:p.Gln16424Ter
XM_024453097.1:c.46612C>T (TTN) XP_024308865.1:p.Gln15538Ter
XM_024453098.1:c.46531C>T (TTN) XP_024308866.1:p.Gln15511Ter
XM_024453099.1:c.28294C>T (TTN) XP_024308867.1:p.Gln9432Ter
XM_024453100.1:c.18148C>T (TTN) XP_024308868.1:p.Gln6050Ter