Canonical Allele Identifier: CA349409170
Community Standard Title: NM_001267550.2(TTN):c.105251C>G (p.Ser35084Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178531364G>C , CM000664.2:g.178531364G>C GRCh38
NC_000002.11:g.179396091G>C , CM000664.1:g.179396091G>C GRCh37
NC_000002.10:g.179104337G>C NCBI36
NG_011618.3:g.304439C>G , LRG_391:g.304439C>G
NG_051363.1:g.13538G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.105251C>G (TTN) MANE Select NP_001254479.2:p.Ser35084Ter
ENST00000589042.5:c.105251C>G (TTN) MANE Select ENSP00000467141.1:p.Ser35084Ter
NM_001256850.1:c.100328C>G (TTN) NP_001243779.1:p.Ser33443Ter
NM_003319.4:c.78056C>G (TTN) NP_003310.4:p.Ser26019Ter
NM_133378.4:c.97547C>G (TTN) NP_596869.4:p.Ser32516Ter
NM_133432.3:c.78431C>G (TTN) NP_597676.3:p.Ser26144Ter
NM_133437.4:c.78632C>G (TTN) NP_597681.4:p.Ser26211Ter
NR_038271.1:n.446+7728G>C (TTN-AS1)
NR_038272.1:n.220-4368G>C (TTN-AS1)
ENST00000342175.10:c.78632C>G (TTN) ENSP00000340554.6:p.Ser26211Ter
ENST00000342175.11:c.78632C>G (TTN) ENSP00000340554.6:p.Ser26211Ter
ENST00000342992.10:c.97547C>G (TTN) ENSP00000343764.6:p.Ser32516Ter
ENST00000342992.11:c.97547C>G (TTN) ENSP00000343764.6:p.Ser32516Ter
ENST00000359218.10:c.78431C>G (TTN) ENSP00000352154.5:p.Ser26144Ter
ENST00000359218.9:c.78431C>G (TTN) ENSP00000352154.5:p.Ser26144Ter
ENST00000460472.6:c.78056C>G (TTN) ENSP00000434586.1:p.Ser26019Ter
ENST00000591111.5:c.100328C>G (TTN) ENSP00000465570.1:p.Ser33443Ter
ENST00000615779.4:c.100328C>G (TTN) ENSP00000483597.1:p.Ser33443Ter
XM_011511729.1:c.104348C>G (TTN) XP_011510031.1:p.Ser34783Ter
XM_011511730.1:c.78242C>G (TTN) XP_011510032.1:p.Ser26081Ter
XM_011511731.1:c.78101C>G (TTN) XP_011510033.1:p.Ser26034Ter
XM_017004819.1:c.104144C>G (TTN) XP_016860308.1:p.Ser34715Ter
XM_017004820.1:c.99542C>G (TTN) XP_016860309.1:p.Ser33181Ter
XM_017004821.1:c.99539C>G (TTN) XP_016860310.1:p.Ser33180Ter
XM_017004822.1:c.96581C>G (TTN) XP_016860311.1:p.Ser32194Ter
XM_017004823.1:c.78197C>G (TTN) XP_016860312.1:p.Ser26066Ter
XM_024453094.1:c.99692C>G (TTN) XP_024308862.1:p.Ser33231Ter
XM_024453095.1:c.99689C>G (TTN) XP_024308863.1:p.Ser33230Ter
XM_024453096.1:c.99122C>G (TTN) XP_024308864.1:p.Ser33041Ter
XM_024453097.1:c.96464C>G (TTN) XP_024308865.1:p.Ser32155Ter
XM_024453098.1:c.96383C>G (TTN) XP_024308866.1:p.Ser32128Ter
XM_024453099.1:c.78146C>G (TTN) XP_024308867.1:p.Ser26049Ter
XM_024453100.1:c.68000C>G (TTN) XP_024308868.1:p.Ser22667Ter