Canonical Allele Identifier: CA349586011
Community Standard Title: NM_001267550.2(TTN):c.80801C>G (p.Ser26934Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178565331G>C , CM000664.2:g.178565331G>C GRCh38
NC_000002.11:g.179430058G>C , CM000664.1:g.179430058G>C GRCh37
NC_000002.10:g.179138304G>C NCBI36
NG_011618.3:g.270472C>G , LRG_391:g.270472C>G
NG_051363.1:g.47505G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.80801C>G (TTN) MANE Select NP_001254479.2:p.Ser26934Ter
ENST00000589042.5:c.80801C>G (TTN) MANE Select ENSP00000467141.1:p.Ser26934Ter
NM_001256850.1:c.75878C>G (TTN) NP_001243779.1:p.Ser25293Ter
NM_003319.4:c.53606C>G (TTN) NP_003310.4:p.Ser17869Ter
NM_133378.4:c.73097C>G (TTN) NP_596869.4:p.Ser24366Ter
NM_133432.3:c.53981C>G (TTN) NP_597676.3:p.Ser17994Ter
NM_133437.4:c.54182C>G (TTN) NP_597681.4:p.Ser18061Ter
NR_038271.1:n.447-5969G>C (TTN-AS1)
NR_038272.1:n.2044-17241G>C (TTN-AS1)
ENST00000342175.10:c.54182C>G (TTN) ENSP00000340554.6:p.Ser18061Ter
ENST00000342175.11:c.54182C>G (TTN) ENSP00000340554.6:p.Ser18061Ter
ENST00000342992.10:c.73097C>G (TTN) ENSP00000343764.6:p.Ser24366Ter
ENST00000342992.11:c.73097C>G (TTN) ENSP00000343764.6:p.Ser24366Ter
ENST00000359218.10:c.53981C>G (TTN) ENSP00000352154.5:p.Ser17994Ter
ENST00000359218.9:c.53981C>G (TTN) ENSP00000352154.5:p.Ser17994Ter
ENST00000460472.6:c.53606C>G (TTN) ENSP00000434586.1:p.Ser17869Ter
ENST00000591111.5:c.75878C>G (TTN) ENSP00000465570.1:p.Ser25293Ter
ENST00000615779.4:c.75878C>G (TTN) ENSP00000483597.1:p.Ser25293Ter
XM_011511729.1:c.79898C>G (TTN) XP_011510031.1:p.Ser26633Ter
XM_011511730.1:c.53792C>G (TTN) XP_011510032.1:p.Ser17931Ter
XM_011511731.1:c.53651C>G (TTN) XP_011510033.1:p.Ser17884Ter
XM_017004819.1:c.79694C>G (TTN) XP_016860308.1:p.Ser26565Ter
XM_017004820.1:c.75092C>G (TTN) XP_016860309.1:p.Ser25031Ter
XM_017004821.1:c.75089C>G (TTN) XP_016860310.1:p.Ser25030Ter
XM_017004822.1:c.72131C>G (TTN) XP_016860311.1:p.Ser24044Ter
XM_017004823.1:c.53747C>G (TTN) XP_016860312.1:p.Ser17916Ter
XM_024453094.1:c.75242C>G (TTN) XP_024308862.1:p.Ser25081Ter
XM_024453095.1:c.75239C>G (TTN) XP_024308863.1:p.Ser25080Ter
XM_024453096.1:c.74672C>G (TTN) XP_024308864.1:p.Ser24891Ter
XM_024453097.1:c.72014C>G (TTN) XP_024308865.1:p.Ser24005Ter
XM_024453098.1:c.71933C>G (TTN) XP_024308866.1:p.Ser23978Ter
XM_024453099.1:c.53696C>G (TTN) XP_024308867.1:p.Ser17899Ter
XM_024453100.1:c.43550C>G (TTN) XP_024308868.1:p.Ser14517Ter