Canonical Allele Identifier: CA349432385
Community Standard Title: NM_001267550.2(TTN):c.98450G>A (p.Trp32817Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178539615C>T , CM000664.2:g.178539615C>T GRCh38
NC_000002.11:g.179404342C>T , CM000664.1:g.179404342C>T GRCh37
NC_000002.10:g.179112588C>T NCBI36
NG_011618.3:g.296188G>A , LRG_391:g.296188G>A
NG_051363.1:g.21789C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.98450G>A (TTN) MANE Select NP_001254479.2:p.Trp32817Ter
ENST00000589042.5:c.98450G>A (TTN) MANE Select ENSP00000467141.1:p.Trp32817Ter
NM_001256850.1:c.93527G>A (TTN) NP_001243779.1:p.Trp31176Ter
NM_003319.4:c.71255G>A (TTN) NP_003310.4:p.Trp23752Ter
NM_133378.4:c.90746G>A (TTN) NP_596869.4:p.Trp30249Ter
NM_133432.3:c.71630G>A (TTN) NP_597676.3:p.Trp23877Ter
NM_133437.4:c.71831G>A (TTN) NP_597681.4:p.Trp23944Ter
NR_038271.1:n.446+15979C>T (TTN-AS1)
NR_038272.1:n.1565C>T (TTN-AS1)
ENST00000342175.10:c.71831G>A (TTN) ENSP00000340554.6:p.Trp23944Ter
ENST00000342175.11:c.71831G>A (TTN) ENSP00000340554.6:p.Trp23944Ter
ENST00000342992.10:c.90746G>A (TTN) ENSP00000343764.6:p.Trp30249Ter
ENST00000342992.11:c.90746G>A (TTN) ENSP00000343764.6:p.Trp30249Ter
ENST00000359218.10:c.71630G>A (TTN) ENSP00000352154.5:p.Trp23877Ter
ENST00000359218.9:c.71630G>A (TTN) ENSP00000352154.5:p.Trp23877Ter
ENST00000460472.6:c.71255G>A (TTN) ENSP00000434586.1:p.Trp23752Ter
ENST00000591111.5:c.93527G>A (TTN) ENSP00000465570.1:p.Trp31176Ter
ENST00000615779.4:c.93527G>A (TTN) ENSP00000483597.1:p.Trp31176Ter
XM_011511729.1:c.97547G>A (TTN) XP_011510031.1:p.Trp32516Ter
XM_011511730.1:c.71441G>A (TTN) XP_011510032.1:p.Trp23814Ter
XM_011511731.1:c.71300G>A (TTN) XP_011510033.1:p.Trp23767Ter
XM_017004819.1:c.97343G>A (TTN) XP_016860308.1:p.Trp32448Ter
XM_017004820.1:c.92741G>A (TTN) XP_016860309.1:p.Trp30914Ter
XM_017004821.1:c.92738G>A (TTN) XP_016860310.1:p.Trp30913Ter
XM_017004822.1:c.89780G>A (TTN) XP_016860311.1:p.Trp29927Ter
XM_017004823.1:c.71396G>A (TTN) XP_016860312.1:p.Trp23799Ter
XM_024453094.1:c.92891G>A (TTN) XP_024308862.1:p.Trp30964Ter
XM_024453095.1:c.92888G>A (TTN) XP_024308863.1:p.Trp30963Ter
XM_024453096.1:c.92321G>A (TTN) XP_024308864.1:p.Trp30774Ter
XM_024453097.1:c.89663G>A (TTN) XP_024308865.1:p.Trp29888Ter
XM_024453098.1:c.89582G>A (TTN) XP_024308866.1:p.Trp29861Ter
XM_024453099.1:c.71345G>A (TTN) XP_024308867.1:p.Trp23782Ter
XM_024453100.1:c.61199G>A (TTN) XP_024308868.1:p.Trp20400Ter