Canonical Allele Identifier: CA349494393
Community Standard Title: NM_001267550.2(TTN):c.92146C>T (p.Gln30716Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178549576G>A , CM000664.2:g.178549576G>A GRCh38
NC_000002.11:g.179414303G>A , CM000664.1:g.179414303G>A GRCh37
NC_000002.10:g.179122549G>A NCBI36
NG_011618.3:g.286227C>T , LRG_391:g.286227C>T
NG_051363.1:g.31750G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.92146C>T (TTN) MANE Select NP_001254479.2:p.Gln30716Ter
ENST00000589042.5:c.92146C>T (TTN) MANE Select ENSP00000467141.1:p.Gln30716Ter
NM_001256850.1:c.87223C>T (TTN) NP_001243779.1:p.Gln29075Ter
NM_003319.4:c.64951C>T (TTN) NP_003310.4:p.Gln21651Ter
NM_133378.4:c.84442C>T (TTN) NP_596869.4:p.Gln28148Ter
NM_133432.3:c.65326C>T (TTN) NP_597676.3:p.Gln21776Ter
NM_133437.4:c.65527C>T (TTN) NP_597681.4:p.Gln21843Ter
NR_038271.1:n.447-21724G>A (TTN-AS1)
NR_038272.1:n.2043+7215G>A (TTN-AS1)
ENST00000342175.10:c.65527C>T (TTN) ENSP00000340554.6:p.Gln21843Ter
ENST00000342175.11:c.65527C>T (TTN) ENSP00000340554.6:p.Gln21843Ter
ENST00000342992.10:c.84442C>T (TTN) ENSP00000343764.6:p.Gln28148Ter
ENST00000342992.11:c.84442C>T (TTN) ENSP00000343764.6:p.Gln28148Ter
ENST00000359218.10:c.65326C>T (TTN) ENSP00000352154.5:p.Gln21776Ter
ENST00000359218.9:c.65326C>T (TTN) ENSP00000352154.5:p.Gln21776Ter
ENST00000460472.6:c.64951C>T (TTN) ENSP00000434586.1:p.Gln21651Ter
ENST00000591111.5:c.87223C>T (TTN) ENSP00000465570.1:p.Gln29075Ter
ENST00000615779.4:c.87223C>T (TTN) ENSP00000483597.1:p.Gln29075Ter
XM_011511729.1:c.91243C>T (TTN) XP_011510031.1:p.Gln30415Ter
XM_011511730.1:c.65137C>T (TTN) XP_011510032.1:p.Gln21713Ter
XM_011511731.1:c.64996C>T (TTN) XP_011510033.1:p.Gln21666Ter
XM_017004819.1:c.91039C>T (TTN) XP_016860308.1:p.Gln30347Ter
XM_017004820.1:c.86437C>T (TTN) XP_016860309.1:p.Gln28813Ter
XM_017004821.1:c.86434C>T (TTN) XP_016860310.1:p.Gln28812Ter
XM_017004822.1:c.83476C>T (TTN) XP_016860311.1:p.Gln27826Ter
XM_017004823.1:c.65092C>T (TTN) XP_016860312.1:p.Gln21698Ter
XM_024453094.1:c.86587C>T (TTN) XP_024308862.1:p.Gln28863Ter
XM_024453095.1:c.86584C>T (TTN) XP_024308863.1:p.Gln28862Ter
XM_024453096.1:c.86017C>T (TTN) XP_024308864.1:p.Gln28673Ter
XM_024453097.1:c.83359C>T (TTN) XP_024308865.1:p.Gln27787Ter
XM_024453098.1:c.83278C>T (TTN) XP_024308866.1:p.Gln27760Ter
XM_024453099.1:c.65041C>T (TTN) XP_024308867.1:p.Gln21681Ter
XM_024453100.1:c.54895C>T (TTN) XP_024308868.1:p.Gln18299Ter