Canonical Allele Identifier: CA349663680
Community Standard Title: NM_001267550.2(TTN):c.70270A>T (p.Lys23424Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178575862T>A , CM000664.2:g.178575862T>A GRCh38
NC_000002.11:g.179440589T>A , CM000664.1:g.179440589T>A GRCh37
NC_000002.10:g.179148835T>A NCBI36
NG_011618.3:g.259941A>T , LRG_391:g.259941A>T
NG_051363.1:g.58036T>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.70270A>T (TTN) MANE Select NP_001254479.2:p.Lys23424Ter
ENST00000589042.5:c.70270A>T (TTN) MANE Select ENSP00000467141.1:p.Lys23424Ter
NM_001256850.1:c.65347A>T (TTN) NP_001243779.1:p.Lys21783Ter
NM_003319.4:c.43075A>T (TTN) NP_003310.4:p.Lys14359Ter
NM_133378.4:c.62566A>T (TTN) NP_596869.4:p.Lys20856Ter
NM_133432.3:c.43450A>T (TTN) NP_597676.3:p.Lys14484Ter
NM_133437.4:c.43651A>T (TTN) NP_597681.4:p.Lys14551Ter
NR_038271.1:n.596+4413T>A (TTN-AS1)
NR_038272.1:n.2044-6710T>A (TTN-AS1)
ENST00000342175.10:c.43651A>T (TTN) ENSP00000340554.6:p.Lys14551Ter
ENST00000342175.11:c.43651A>T (TTN) ENSP00000340554.6:p.Lys14551Ter
ENST00000342992.10:c.62566A>T (TTN) ENSP00000343764.6:p.Lys20856Ter
ENST00000342992.11:c.62566A>T (TTN) ENSP00000343764.6:p.Lys20856Ter
ENST00000359218.10:c.43450A>T (TTN) ENSP00000352154.5:p.Lys14484Ter
ENST00000359218.9:c.43450A>T (TTN) ENSP00000352154.5:p.Lys14484Ter
ENST00000460472.6:c.43075A>T (TTN) ENSP00000434586.1:p.Lys14359Ter
ENST00000591111.5:c.65347A>T (TTN) ENSP00000465570.1:p.Lys21783Ter
ENST00000615779.4:c.65347A>T (TTN) ENSP00000483597.1:p.Lys21783Ter
XM_011511729.1:c.69367A>T (TTN) XP_011510031.1:p.Lys23123Ter
XM_011511730.1:c.43261A>T (TTN) XP_011510032.1:p.Lys14421Ter
XM_011511731.1:c.43120A>T (TTN) XP_011510033.1:p.Lys14374Ter
XM_017004819.1:c.69163A>T (TTN) XP_016860308.1:p.Lys23055Ter
XM_017004820.1:c.64561A>T (TTN) XP_016860309.1:p.Lys21521Ter
XM_017004821.1:c.64558A>T (TTN) XP_016860310.1:p.Lys21520Ter
XM_017004822.1:c.61600A>T (TTN) XP_016860311.1:p.Lys20534Ter
XM_017004823.1:c.43216A>T (TTN) XP_016860312.1:p.Lys14406Ter
XM_024453094.1:c.64711A>T (TTN) XP_024308862.1:p.Lys21571Ter
XM_024453095.1:c.64708A>T (TTN) XP_024308863.1:p.Lys21570Ter
XM_024453096.1:c.64141A>T (TTN) XP_024308864.1:p.Lys21381Ter
XM_024453097.1:c.61483A>T (TTN) XP_024308865.1:p.Lys20495Ter
XM_024453098.1:c.61402A>T (TTN) XP_024308866.1:p.Lys20468Ter
XM_024453099.1:c.43165A>T (TTN) XP_024308867.1:p.Lys14389Ter
XM_024453100.1:c.33019A>T (TTN) XP_024308868.1:p.Lys11007Ter