Canonical Allele Identifier: CA349473936
Community Standard Title: NM_001267550.2(TTN):c.94437T>G (p.Tyr31479Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178547088A>C , CM000664.2:g.178547088A>C GRCh38
NC_000002.11:g.179411815A>C , CM000664.1:g.179411815A>C GRCh37
NC_000002.10:g.179120061A>C NCBI36
NG_011618.3:g.288715T>G , LRG_391:g.288715T>G
NG_051363.1:g.29262A>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.94437T>G (TTN) MANE Select NP_001254479.2:p.Tyr31479Ter
ENST00000589042.5:c.94437T>G (TTN) MANE Select ENSP00000467141.1:p.Tyr31479Ter
NM_001256850.1:c.89514T>G (TTN) NP_001243779.1:p.Tyr29838Ter
NM_003319.4:c.67242T>G (TTN) NP_003310.4:p.Tyr22414Ter
NM_133378.4:c.86733T>G (TTN) NP_596869.4:p.Tyr28911Ter
NM_133432.3:c.67617T>G (TTN) NP_597676.3:p.Tyr22539Ter
NM_133437.4:c.67818T>G (TTN) NP_597681.4:p.Tyr22606Ter
NR_038271.1:n.446+23452A>C (TTN-AS1)
NR_038272.1:n.2043+4727A>C (TTN-AS1)
ENST00000342175.10:c.67818T>G (TTN) ENSP00000340554.6:p.Tyr22606Ter
ENST00000342175.11:c.67818T>G (TTN) ENSP00000340554.6:p.Tyr22606Ter
ENST00000342992.10:c.86733T>G (TTN) ENSP00000343764.6:p.Tyr28911Ter
ENST00000342992.11:c.86733T>G (TTN) ENSP00000343764.6:p.Tyr28911Ter
ENST00000359218.10:c.67617T>G (TTN) ENSP00000352154.5:p.Tyr22539Ter
ENST00000359218.9:c.67617T>G (TTN) ENSP00000352154.5:p.Tyr22539Ter
ENST00000460472.6:c.67242T>G (TTN) ENSP00000434586.1:p.Tyr22414Ter
ENST00000591111.5:c.89514T>G (TTN) ENSP00000465570.1:p.Tyr29838Ter
ENST00000615779.4:c.89514T>G (TTN) ENSP00000483597.1:p.Tyr29838Ter
XM_011511729.1:c.93534T>G (TTN) XP_011510031.1:p.Tyr31178Ter
XM_011511730.1:c.67428T>G (TTN) XP_011510032.1:p.Tyr22476Ter
XM_011511731.1:c.67287T>G (TTN) XP_011510033.1:p.Tyr22429Ter
XM_017004819.1:c.93330T>G (TTN) XP_016860308.1:p.Tyr31110Ter
XM_017004820.1:c.88728T>G (TTN) XP_016860309.1:p.Tyr29576Ter
XM_017004821.1:c.88725T>G (TTN) XP_016860310.1:p.Tyr29575Ter
XM_017004822.1:c.85767T>G (TTN) XP_016860311.1:p.Tyr28589Ter
XM_017004823.1:c.67383T>G (TTN) XP_016860312.1:p.Tyr22461Ter
XM_024453094.1:c.88878T>G (TTN) XP_024308862.1:p.Tyr29626Ter
XM_024453095.1:c.88875T>G (TTN) XP_024308863.1:p.Tyr29625Ter
XM_024453096.1:c.88308T>G (TTN) XP_024308864.1:p.Tyr29436Ter
XM_024453097.1:c.85650T>G (TTN) XP_024308865.1:p.Tyr28550Ter
XM_024453098.1:c.85569T>G (TTN) XP_024308866.1:p.Tyr28523Ter
XM_024453099.1:c.67332T>G (TTN) XP_024308867.1:p.Tyr22444Ter
XM_024453100.1:c.57186T>G (TTN) XP_024308868.1:p.Tyr19062Ter