Canonical Allele Identifier: CA349577740
Community Standard Title: NM_001267550.2(TTN):c.81805G>T (p.Glu27269Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178564327C>A , CM000664.2:g.178564327C>A GRCh38
NC_000002.11:g.179429054C>A , CM000664.1:g.179429054C>A GRCh37
NC_000002.10:g.179137300C>A NCBI36
NG_011618.3:g.271476G>T , LRG_391:g.271476G>T
NG_051363.1:g.46501C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.81805G>T (TTN) MANE Select NP_001254479.2:p.Glu27269Ter
ENST00000589042.5:c.81805G>T (TTN) MANE Select ENSP00000467141.1:p.Glu27269Ter
NM_001256850.1:c.76882G>T (TTN) NP_001243779.1:p.Glu25628Ter
NM_003319.4:c.54610G>T (TTN) NP_003310.4:p.Glu18204Ter
NM_133378.4:c.74101G>T (TTN) NP_596869.4:p.Glu24701Ter
NM_133432.3:c.54985G>T (TTN) NP_597676.3:p.Glu18329Ter
NM_133437.4:c.55186G>T (TTN) NP_597681.4:p.Glu18396Ter
NR_038271.1:n.447-6973C>A (TTN-AS1)
NR_038272.1:n.2044-18245C>A (TTN-AS1)
ENST00000342175.10:c.55186G>T (TTN) ENSP00000340554.6:p.Glu18396Ter
ENST00000342175.11:c.55186G>T (TTN) ENSP00000340554.6:p.Glu18396Ter
ENST00000342992.10:c.74101G>T (TTN) ENSP00000343764.6:p.Glu24701Ter
ENST00000342992.11:c.74101G>T (TTN) ENSP00000343764.6:p.Glu24701Ter
ENST00000359218.10:c.54985G>T (TTN) ENSP00000352154.5:p.Glu18329Ter
ENST00000359218.9:c.54985G>T (TTN) ENSP00000352154.5:p.Glu18329Ter
ENST00000460472.6:c.54610G>T (TTN) ENSP00000434586.1:p.Glu18204Ter
ENST00000591111.5:c.76882G>T (TTN) ENSP00000465570.1:p.Glu25628Ter
ENST00000615779.4:c.76882G>T (TTN) ENSP00000483597.1:p.Glu25628Ter
XM_011511729.1:c.80902G>T (TTN) XP_011510031.1:p.Glu26968Ter
XM_011511730.1:c.54796G>T (TTN) XP_011510032.1:p.Glu18266Ter
XM_011511731.1:c.54655G>T (TTN) XP_011510033.1:p.Glu18219Ter
XM_017004819.1:c.80698G>T (TTN) XP_016860308.1:p.Glu26900Ter
XM_017004820.1:c.76096G>T (TTN) XP_016860309.1:p.Glu25366Ter
XM_017004821.1:c.76093G>T (TTN) XP_016860310.1:p.Glu25365Ter
XM_017004822.1:c.73135G>T (TTN) XP_016860311.1:p.Glu24379Ter
XM_017004823.1:c.54751G>T (TTN) XP_016860312.1:p.Glu18251Ter
XM_024453094.1:c.76246G>T (TTN) XP_024308862.1:p.Glu25416Ter
XM_024453095.1:c.76243G>T (TTN) XP_024308863.1:p.Glu25415Ter
XM_024453096.1:c.75676G>T (TTN) XP_024308864.1:p.Glu25226Ter
XM_024453097.1:c.73018G>T (TTN) XP_024308865.1:p.Glu24340Ter
XM_024453098.1:c.72937G>T (TTN) XP_024308866.1:p.Glu24313Ter
XM_024453099.1:c.54700G>T (TTN) XP_024308867.1:p.Glu18234Ter
XM_024453100.1:c.44554G>T (TTN) XP_024308868.1:p.Glu14852Ter