Canonical Allele Identifier: CA349593667
Community Standard Title: NM_001267550.2(TTN):c.79801G>T (p.Gly26601Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178566331C>A , CM000664.2:g.178566331C>A GRCh38
NC_000002.11:g.179431058C>A , CM000664.1:g.179431058C>A GRCh37
NC_000002.10:g.179139304C>A NCBI36
NG_011618.3:g.269472G>T , LRG_391:g.269472G>T
NG_051363.1:g.48505C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.79801G>T (TTN) MANE Select NP_001254479.2:p.Gly26601Ter
ENST00000589042.5:c.79801G>T (TTN) MANE Select ENSP00000467141.1:p.Gly26601Ter
NM_001256850.1:c.74878G>T (TTN) NP_001243779.1:p.Gly24960Ter
NM_003319.4:c.52606G>T (TTN) NP_003310.4:p.Gly17536Ter
NM_133378.4:c.72097G>T (TTN) NP_596869.4:p.Gly24033Ter
NM_133432.3:c.52981G>T (TTN) NP_597676.3:p.Gly17661Ter
NM_133437.4:c.53182G>T (TTN) NP_597681.4:p.Gly17728Ter
NR_038271.1:n.447-4969C>A (TTN-AS1)
NR_038272.1:n.2044-16241C>A (TTN-AS1)
ENST00000342175.10:c.53182G>T (TTN) ENSP00000340554.6:p.Gly17728Ter
ENST00000342175.11:c.53182G>T (TTN) ENSP00000340554.6:p.Gly17728Ter
ENST00000342992.10:c.72097G>T (TTN) ENSP00000343764.6:p.Gly24033Ter
ENST00000342992.11:c.72097G>T (TTN) ENSP00000343764.6:p.Gly24033Ter
ENST00000359218.10:c.52981G>T (TTN) ENSP00000352154.5:p.Gly17661Ter
ENST00000359218.9:c.52981G>T (TTN) ENSP00000352154.5:p.Gly17661Ter
ENST00000460472.6:c.52606G>T (TTN) ENSP00000434586.1:p.Gly17536Ter
ENST00000591111.5:c.74878G>T (TTN) ENSP00000465570.1:p.Gly24960Ter
ENST00000615779.4:c.74878G>T (TTN) ENSP00000483597.1:p.Gly24960Ter
XM_011511729.1:c.78898G>T (TTN) XP_011510031.1:p.Gly26300Ter
XM_011511730.1:c.52792G>T (TTN) XP_011510032.1:p.Gly17598Ter
XM_011511731.1:c.52651G>T (TTN) XP_011510033.1:p.Gly17551Ter
XM_017004819.1:c.78694G>T (TTN) XP_016860308.1:p.Gly26232Ter
XM_017004820.1:c.74092G>T (TTN) XP_016860309.1:p.Gly24698Ter
XM_017004821.1:c.74089G>T (TTN) XP_016860310.1:p.Gly24697Ter
XM_017004822.1:c.71131G>T (TTN) XP_016860311.1:p.Gly23711Ter
XM_017004823.1:c.52747G>T (TTN) XP_016860312.1:p.Gly17583Ter
XM_024453094.1:c.74242G>T (TTN) XP_024308862.1:p.Gly24748Ter
XM_024453095.1:c.74239G>T (TTN) XP_024308863.1:p.Gly24747Ter
XM_024453096.1:c.73672G>T (TTN) XP_024308864.1:p.Gly24558Ter
XM_024453097.1:c.71014G>T (TTN) XP_024308865.1:p.Gly23672Ter
XM_024453098.1:c.70933G>T (TTN) XP_024308866.1:p.Gly23645Ter
XM_024453099.1:c.52696G>T (TTN) XP_024308867.1:p.Gly17566Ter
XM_024453100.1:c.42550G>T (TTN) XP_024308868.1:p.Gly14184Ter