Canonical Allele Identifier: CA349574885
Community Standard Title: NM_001267550.2(TTN):c.82208C>G (p.Ser27403Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178563924G>C , CM000664.2:g.178563924G>C GRCh38
NC_000002.11:g.179428651G>C , CM000664.1:g.179428651G>C GRCh37
NC_000002.10:g.179136897G>C NCBI36
NG_011618.3:g.271879C>G , LRG_391:g.271879C>G
NG_051363.1:g.46098G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.82208C>G (TTN) MANE Select NP_001254479.2:p.Ser27403Ter
ENST00000589042.5:c.82208C>G (TTN) MANE Select ENSP00000467141.1:p.Ser27403Ter
NM_001256850.1:c.77285C>G (TTN) NP_001243779.1:p.Ser25762Ter
NM_003319.4:c.55013C>G (TTN) NP_003310.4:p.Ser18338Ter
NM_133378.4:c.74504C>G (TTN) NP_596869.4:p.Ser24835Ter
NM_133432.3:c.55388C>G (TTN) NP_597676.3:p.Ser18463Ter
NM_133437.4:c.55589C>G (TTN) NP_597681.4:p.Ser18530Ter
NR_038271.1:n.447-7376G>C (TTN-AS1)
NR_038272.1:n.2044-18648G>C (TTN-AS1)
ENST00000342175.10:c.55589C>G (TTN) ENSP00000340554.6:p.Ser18530Ter
ENST00000342175.11:c.55589C>G (TTN) ENSP00000340554.6:p.Ser18530Ter
ENST00000342992.10:c.74504C>G (TTN) ENSP00000343764.6:p.Ser24835Ter
ENST00000342992.11:c.74504C>G (TTN) ENSP00000343764.6:p.Ser24835Ter
ENST00000359218.10:c.55388C>G (TTN) ENSP00000352154.5:p.Ser18463Ter
ENST00000359218.9:c.55388C>G (TTN) ENSP00000352154.5:p.Ser18463Ter
ENST00000460472.6:c.55013C>G (TTN) ENSP00000434586.1:p.Ser18338Ter
ENST00000591111.5:c.77285C>G (TTN) ENSP00000465570.1:p.Ser25762Ter
ENST00000615779.4:c.77285C>G (TTN) ENSP00000483597.1:p.Ser25762Ter
XM_011511729.1:c.81305C>G (TTN) XP_011510031.1:p.Ser27102Ter
XM_011511730.1:c.55199C>G (TTN) XP_011510032.1:p.Ser18400Ter
XM_011511731.1:c.55058C>G (TTN) XP_011510033.1:p.Ser18353Ter
XM_017004819.1:c.81101C>G (TTN) XP_016860308.1:p.Ser27034Ter
XM_017004820.1:c.76499C>G (TTN) XP_016860309.1:p.Ser25500Ter
XM_017004821.1:c.76496C>G (TTN) XP_016860310.1:p.Ser25499Ter
XM_017004822.1:c.73538C>G (TTN) XP_016860311.1:p.Ser24513Ter
XM_017004823.1:c.55154C>G (TTN) XP_016860312.1:p.Ser18385Ter
XM_024453094.1:c.76649C>G (TTN) XP_024308862.1:p.Ser25550Ter
XM_024453095.1:c.76646C>G (TTN) XP_024308863.1:p.Ser25549Ter
XM_024453096.1:c.76079C>G (TTN) XP_024308864.1:p.Ser25360Ter
XM_024453097.1:c.73421C>G (TTN) XP_024308865.1:p.Ser24474Ter
XM_024453098.1:c.73340C>G (TTN) XP_024308866.1:p.Ser24447Ter
XM_024453099.1:c.55103C>G (TTN) XP_024308867.1:p.Ser18368Ter
XM_024453100.1:c.44957C>G (TTN) XP_024308868.1:p.Ser14986Ter