Canonical Allele Identifier: CA349568426
Community Standard Title: NM_001267550.2(TTN):c.83297C>A (p.Ser27766Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178562835G>T , CM000664.2:g.178562835G>T GRCh38
NC_000002.11:g.179427562G>T , CM000664.1:g.179427562G>T GRCh37
NC_000002.10:g.179135808G>T NCBI36
NG_011618.3:g.272968C>A , LRG_391:g.272968C>A
NG_051363.1:g.45009G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.83297C>A (TTN) MANE Select NP_001254479.2:p.Ser27766Ter
ENST00000589042.5:c.83297C>A (TTN) MANE Select ENSP00000467141.1:p.Ser27766Ter
NM_001256850.1:c.78374C>A (TTN) NP_001243779.1:p.Ser26125Ter
NM_003319.4:c.56102C>A (TTN) NP_003310.4:p.Ser18701Ter
NM_133378.4:c.75593C>A (TTN) NP_596869.4:p.Ser25198Ter
NM_133432.3:c.56477C>A (TTN) NP_597676.3:p.Ser18826Ter
NM_133437.4:c.56678C>A (TTN) NP_597681.4:p.Ser18893Ter
NR_038271.1:n.447-8465G>T (TTN-AS1)
NR_038272.1:n.2044-19737G>T (TTN-AS1)
ENST00000342175.10:c.56678C>A (TTN) ENSP00000340554.6:p.Ser18893Ter
ENST00000342175.11:c.56678C>A (TTN) ENSP00000340554.6:p.Ser18893Ter
ENST00000342992.10:c.75593C>A (TTN) ENSP00000343764.6:p.Ser25198Ter
ENST00000342992.11:c.75593C>A (TTN) ENSP00000343764.6:p.Ser25198Ter
ENST00000359218.10:c.56477C>A (TTN) ENSP00000352154.5:p.Ser18826Ter
ENST00000359218.9:c.56477C>A (TTN) ENSP00000352154.5:p.Ser18826Ter
ENST00000460472.6:c.56102C>A (TTN) ENSP00000434586.1:p.Ser18701Ter
ENST00000591111.5:c.78374C>A (TTN) ENSP00000465570.1:p.Ser26125Ter
ENST00000615779.4:c.78374C>A (TTN) ENSP00000483597.1:p.Ser26125Ter
XM_011511729.1:c.82394C>A (TTN) XP_011510031.1:p.Ser27465Ter
XM_011511730.1:c.56288C>A (TTN) XP_011510032.1:p.Ser18763Ter
XM_011511731.1:c.56147C>A (TTN) XP_011510033.1:p.Ser18716Ter
XM_017004819.1:c.82190C>A (TTN) XP_016860308.1:p.Ser27397Ter
XM_017004820.1:c.77588C>A (TTN) XP_016860309.1:p.Ser25863Ter
XM_017004821.1:c.77585C>A (TTN) XP_016860310.1:p.Ser25862Ter
XM_017004822.1:c.74627C>A (TTN) XP_016860311.1:p.Ser24876Ter
XM_017004823.1:c.56243C>A (TTN) XP_016860312.1:p.Ser18748Ter
XM_024453094.1:c.77738C>A (TTN) XP_024308862.1:p.Ser25913Ter
XM_024453095.1:c.77735C>A (TTN) XP_024308863.1:p.Ser25912Ter
XM_024453096.1:c.77168C>A (TTN) XP_024308864.1:p.Ser25723Ter
XM_024453097.1:c.74510C>A (TTN) XP_024308865.1:p.Ser24837Ter
XM_024453098.1:c.74429C>A (TTN) XP_024308866.1:p.Ser24810Ter
XM_024453099.1:c.56192C>A (TTN) XP_024308867.1:p.Ser18731Ter
XM_024453100.1:c.46046C>A (TTN) XP_024308868.1:p.Ser15349Ter