Canonical Allele Identifier: CA349488395
Community Standard Title: NM_001267550.2(TTN):c.93034A>T (p.Lys31012Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178548592T>A , CM000664.2:g.178548592T>A GRCh38
NC_000002.11:g.179413319T>A , CM000664.1:g.179413319T>A GRCh37
NC_000002.10:g.179121565T>A NCBI36
NG_011618.3:g.287211A>T , LRG_391:g.287211A>T
NG_051363.1:g.30766T>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.93034A>T (TTN) MANE Select NP_001254479.2:p.Lys31012Ter
ENST00000589042.5:c.93034A>T (TTN) MANE Select ENSP00000467141.1:p.Lys31012Ter
NM_001256850.1:c.88111A>T (TTN) NP_001243779.1:p.Lys29371Ter
NM_003319.4:c.65839A>T (TTN) NP_003310.4:p.Lys21947Ter
NM_133378.4:c.85330A>T (TTN) NP_596869.4:p.Lys28444Ter
NM_133432.3:c.66214A>T (TTN) NP_597676.3:p.Lys22072Ter
NM_133437.4:c.66415A>T (TTN) NP_597681.4:p.Lys22139Ter
NR_038271.1:n.447-22708T>A (TTN-AS1)
NR_038272.1:n.2043+6231T>A (TTN-AS1)
ENST00000342175.10:c.66415A>T (TTN) ENSP00000340554.6:p.Lys22139Ter
ENST00000342175.11:c.66415A>T (TTN) ENSP00000340554.6:p.Lys22139Ter
ENST00000342992.10:c.85330A>T (TTN) ENSP00000343764.6:p.Lys28444Ter
ENST00000342992.11:c.85330A>T (TTN) ENSP00000343764.6:p.Lys28444Ter
ENST00000359218.10:c.66214A>T (TTN) ENSP00000352154.5:p.Lys22072Ter
ENST00000359218.9:c.66214A>T (TTN) ENSP00000352154.5:p.Lys22072Ter
ENST00000460472.6:c.65839A>T (TTN) ENSP00000434586.1:p.Lys21947Ter
ENST00000591111.5:c.88111A>T (TTN) ENSP00000465570.1:p.Lys29371Ter
ENST00000615779.4:c.88111A>T (TTN) ENSP00000483597.1:p.Lys29371Ter
XM_011511729.1:c.92131A>T (TTN) XP_011510031.1:p.Lys30711Ter
XM_011511730.1:c.66025A>T (TTN) XP_011510032.1:p.Lys22009Ter
XM_011511731.1:c.65884A>T (TTN) XP_011510033.1:p.Lys21962Ter
XM_017004819.1:c.91927A>T (TTN) XP_016860308.1:p.Lys30643Ter
XM_017004820.1:c.87325A>T (TTN) XP_016860309.1:p.Lys29109Ter
XM_017004821.1:c.87322A>T (TTN) XP_016860310.1:p.Lys29108Ter
XM_017004822.1:c.84364A>T (TTN) XP_016860311.1:p.Lys28122Ter
XM_017004823.1:c.65980A>T (TTN) XP_016860312.1:p.Lys21994Ter
XM_024453094.1:c.87475A>T (TTN) XP_024308862.1:p.Lys29159Ter
XM_024453095.1:c.87472A>T (TTN) XP_024308863.1:p.Lys29158Ter
XM_024453096.1:c.86905A>T (TTN) XP_024308864.1:p.Lys28969Ter
XM_024453097.1:c.84247A>T (TTN) XP_024308865.1:p.Lys28083Ter
XM_024453098.1:c.84166A>T (TTN) XP_024308866.1:p.Lys28056Ter
XM_024453099.1:c.65929A>T (TTN) XP_024308867.1:p.Lys21977Ter
XM_024453100.1:c.55783A>T (TTN) XP_024308868.1:p.Lys18595Ter