Canonical Allele Identifier: CA349520398
Community Standard Title: NM_001267550.2(TTN):c.89178C>G (p.Tyr29726Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178553933G>C , CM000664.2:g.178553933G>C GRCh38
NC_000002.11:g.179418660G>C , CM000664.1:g.179418660G>C GRCh37
NC_000002.10:g.179126906G>C NCBI36
NG_011618.3:g.281870C>G , LRG_391:g.281870C>G
NG_051363.1:g.36107G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.89178C>G (TTN) MANE Select NP_001254479.2:p.Tyr29726Ter
ENST00000589042.5:c.89178C>G (TTN) MANE Select ENSP00000467141.1:p.Tyr29726Ter
NM_001256850.1:c.84255C>G (TTN) NP_001243779.1:p.Tyr28085Ter
NM_003319.4:c.61983C>G (TTN) NP_003310.4:p.Tyr20661Ter
NM_133378.4:c.81474C>G (TTN) NP_596869.4:p.Tyr27158Ter
NM_133432.3:c.62358C>G (TTN) NP_597676.3:p.Tyr20786Ter
NM_133437.4:c.62559C>G (TTN) NP_597681.4:p.Tyr20853Ter
NR_038271.1:n.447-17367G>C (TTN-AS1)
NR_038272.1:n.2043+11572G>C (TTN-AS1)
ENST00000342175.10:c.62559C>G (TTN) ENSP00000340554.6:p.Tyr20853Ter
ENST00000342175.11:c.62559C>G (TTN) ENSP00000340554.6:p.Tyr20853Ter
ENST00000342992.10:c.81474C>G (TTN) ENSP00000343764.6:p.Tyr27158Ter
ENST00000342992.11:c.81474C>G (TTN) ENSP00000343764.6:p.Tyr27158Ter
ENST00000359218.10:c.62358C>G (TTN) ENSP00000352154.5:p.Tyr20786Ter
ENST00000359218.9:c.62358C>G (TTN) ENSP00000352154.5:p.Tyr20786Ter
ENST00000460472.6:c.61983C>G (TTN) ENSP00000434586.1:p.Tyr20661Ter
ENST00000591111.5:c.84255C>G (TTN) ENSP00000465570.1:p.Tyr28085Ter
ENST00000615779.4:c.84255C>G (TTN) ENSP00000483597.1:p.Tyr28085Ter
XM_011511729.1:c.88275C>G (TTN) XP_011510031.1:p.Tyr29425Ter
XM_011511730.1:c.62169C>G (TTN) XP_011510032.1:p.Tyr20723Ter
XM_011511731.1:c.62028C>G (TTN) XP_011510033.1:p.Tyr20676Ter
XM_017004819.1:c.88071C>G (TTN) XP_016860308.1:p.Tyr29357Ter
XM_017004820.1:c.83469C>G (TTN) XP_016860309.1:p.Tyr27823Ter
XM_017004821.1:c.83466C>G (TTN) XP_016860310.1:p.Tyr27822Ter
XM_017004822.1:c.80508C>G (TTN) XP_016860311.1:p.Tyr26836Ter
XM_017004823.1:c.62124C>G (TTN) XP_016860312.1:p.Tyr20708Ter
XM_024453094.1:c.83619C>G (TTN) XP_024308862.1:p.Tyr27873Ter
XM_024453095.1:c.83616C>G (TTN) XP_024308863.1:p.Tyr27872Ter
XM_024453096.1:c.83049C>G (TTN) XP_024308864.1:p.Tyr27683Ter
XM_024453097.1:c.80391C>G (TTN) XP_024308865.1:p.Tyr26797Ter
XM_024453098.1:c.80310C>G (TTN) XP_024308866.1:p.Tyr26770Ter
XM_024453099.1:c.62073C>G (TTN) XP_024308867.1:p.Tyr20691Ter
XM_024453100.1:c.51927C>G (TTN) XP_024308868.1:p.Tyr17309Ter