Canonical Allele Identifier: CA349516876
Community Standard Title: NM_001267550.2(TTN):c.89684C>G (p.Ser29895Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178553216G>C , CM000664.2:g.178553216G>C GRCh38
NC_000002.11:g.179417943G>C , CM000664.1:g.179417943G>C GRCh37
NC_000002.10:g.179126189G>C NCBI36
NG_011618.3:g.282587C>G , LRG_391:g.282587C>G
NG_051363.1:g.35390G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.89684C>G (TTN) MANE Select NP_001254479.2:p.Ser29895Ter
ENST00000589042.5:c.89684C>G (TTN) MANE Select ENSP00000467141.1:p.Ser29895Ter
NM_001256850.1:c.84761C>G (TTN) NP_001243779.1:p.Ser28254Ter
NM_003319.4:c.62489C>G (TTN) NP_003310.4:p.Ser20830Ter
NM_133378.4:c.81980C>G (TTN) NP_596869.4:p.Ser27327Ter
NM_133432.3:c.62864C>G (TTN) NP_597676.3:p.Ser20955Ter
NM_133437.4:c.63065C>G (TTN) NP_597681.4:p.Ser21022Ter
NR_038271.1:n.447-18084G>C (TTN-AS1)
NR_038272.1:n.2043+10855G>C (TTN-AS1)
ENST00000342175.10:c.63065C>G (TTN) ENSP00000340554.6:p.Ser21022Ter
ENST00000342175.11:c.63065C>G (TTN) ENSP00000340554.6:p.Ser21022Ter
ENST00000342992.10:c.81980C>G (TTN) ENSP00000343764.6:p.Ser27327Ter
ENST00000342992.11:c.81980C>G (TTN) ENSP00000343764.6:p.Ser27327Ter
ENST00000359218.10:c.62864C>G (TTN) ENSP00000352154.5:p.Ser20955Ter
ENST00000359218.9:c.62864C>G (TTN) ENSP00000352154.5:p.Ser20955Ter
ENST00000460472.6:c.62489C>G (TTN) ENSP00000434586.1:p.Ser20830Ter
ENST00000591111.5:c.84761C>G (TTN) ENSP00000465570.1:p.Ser28254Ter
ENST00000615779.4:c.84761C>G (TTN) ENSP00000483597.1:p.Ser28254Ter
XM_011511729.1:c.88781C>G (TTN) XP_011510031.1:p.Ser29594Ter
XM_011511730.1:c.62675C>G (TTN) XP_011510032.1:p.Ser20892Ter
XM_011511731.1:c.62534C>G (TTN) XP_011510033.1:p.Ser20845Ter
XM_017004819.1:c.88577C>G (TTN) XP_016860308.1:p.Ser29526Ter
XM_017004820.1:c.83975C>G (TTN) XP_016860309.1:p.Ser27992Ter
XM_017004821.1:c.83972C>G (TTN) XP_016860310.1:p.Ser27991Ter
XM_017004822.1:c.81014C>G (TTN) XP_016860311.1:p.Ser27005Ter
XM_017004823.1:c.62630C>G (TTN) XP_016860312.1:p.Ser20877Ter
XM_024453094.1:c.84125C>G (TTN) XP_024308862.1:p.Ser28042Ter
XM_024453095.1:c.84122C>G (TTN) XP_024308863.1:p.Ser28041Ter
XM_024453096.1:c.83555C>G (TTN) XP_024308864.1:p.Ser27852Ter
XM_024453097.1:c.80897C>G (TTN) XP_024308865.1:p.Ser26966Ter
XM_024453098.1:c.80816C>G (TTN) XP_024308866.1:p.Ser26939Ter
XM_024453099.1:c.62579C>G (TTN) XP_024308867.1:p.Ser20860Ter
XM_024453100.1:c.52433C>G (TTN) XP_024308868.1:p.Ser17478Ter