Canonical Allele Identifier: CA60985029
Community Standard Title: NM_001267550.2(TTN):c.84819G>A (p.Trp28273Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178561313C>T , CM000664.2:g.178561313C>T GRCh38
NC_000002.11:g.179426040C>T , CM000664.1:g.179426040C>T GRCh37
NC_000002.10:g.179134286C>T NCBI36
NG_011618.3:g.274490G>A , LRG_391:g.274490G>A
NG_051363.1:g.43487C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.84819G>A (TTN) MANE Select NP_001254479.2:p.Trp28273Ter
ENST00000589042.5:c.84819G>A (TTN) MANE Select ENSP00000467141.1:p.Trp28273Ter
NM_001256850.1:c.79896G>A (TTN) NP_001243779.1:p.Trp26632Ter
NM_003319.4:c.57624G>A (TTN) NP_003310.4:p.Trp19208Ter
NM_133378.4:c.77115G>A (TTN) NP_596869.4:p.Trp25705Ter
NM_133432.3:c.57999G>A (TTN) NP_597676.3:p.Trp19333Ter
NM_133437.4:c.58200G>A (TTN) NP_597681.4:p.Trp19400Ter
NR_038271.1:n.447-9987C>T (TTN-AS1)
NR_038272.1:n.2043+18952C>T (TTN-AS1)
ENST00000342175.10:c.58200G>A (TTN) ENSP00000340554.6:p.Trp19400Ter
ENST00000342175.11:c.58200G>A (TTN) ENSP00000340554.6:p.Trp19400Ter
ENST00000342992.10:c.77115G>A (TTN) ENSP00000343764.6:p.Trp25705Ter
ENST00000342992.11:c.77115G>A (TTN) ENSP00000343764.6:p.Trp25705Ter
ENST00000359218.10:c.57999G>A (TTN) ENSP00000352154.5:p.Trp19333Ter
ENST00000359218.9:c.57999G>A (TTN) ENSP00000352154.5:p.Trp19333Ter
ENST00000460472.6:c.57624G>A (TTN) ENSP00000434586.1:p.Trp19208Ter
ENST00000591111.5:c.79896G>A (TTN) ENSP00000465570.1:p.Trp26632Ter
ENST00000615779.4:c.79896G>A (TTN) ENSP00000483597.1:p.Trp26632Ter
XM_011511729.1:c.83916G>A (TTN) XP_011510031.1:p.Trp27972Ter
XM_011511730.1:c.57810G>A (TTN) XP_011510032.1:p.Trp19270Ter
XM_011511731.1:c.57669G>A (TTN) XP_011510033.1:p.Trp19223Ter
XM_017004819.1:c.83712G>A (TTN) XP_016860308.1:p.Trp27904Ter
XM_017004820.1:c.79110G>A (TTN) XP_016860309.1:p.Trp26370Ter
XM_017004821.1:c.79107G>A (TTN) XP_016860310.1:p.Trp26369Ter
XM_017004822.1:c.76149G>A (TTN) XP_016860311.1:p.Trp25383Ter
XM_017004823.1:c.57765G>A (TTN) XP_016860312.1:p.Trp19255Ter
XM_024453094.1:c.79260G>A (TTN) XP_024308862.1:p.Trp26420Ter
XM_024453095.1:c.79257G>A (TTN) XP_024308863.1:p.Trp26419Ter
XM_024453096.1:c.78690G>A (TTN) XP_024308864.1:p.Trp26230Ter
XM_024453097.1:c.76032G>A (TTN) XP_024308865.1:p.Trp25344Ter
XM_024453098.1:c.75951G>A (TTN) XP_024308866.1:p.Trp25317Ter
XM_024453099.1:c.57714G>A (TTN) XP_024308867.1:p.Trp19238Ter
XM_024453100.1:c.47568G>A (TTN) XP_024308868.1:p.Trp15856Ter