Canonical Allele Identifier: CA349660118
Community Standard Title: NM_001267550.2(TTN):c.70936A>T (p.Lys23646Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178575196T>A , CM000664.2:g.178575196T>A GRCh38
NC_000002.11:g.179439923T>A , CM000664.1:g.179439923T>A GRCh37
NC_000002.10:g.179148169T>A NCBI36
NG_011618.3:g.260607A>T , LRG_391:g.260607A>T
NG_051363.1:g.57370T>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.70936A>T (TTN) MANE Select NP_001254479.2:p.Lys23646Ter
ENST00000589042.5:c.70936A>T (TTN) MANE Select ENSP00000467141.1:p.Lys23646Ter
NM_001256850.1:c.66013A>T (TTN) NP_001243779.1:p.Lys22005Ter
NM_003319.4:c.43741A>T (TTN) NP_003310.4:p.Lys14581Ter
NM_133378.4:c.63232A>T (TTN) NP_596869.4:p.Lys21078Ter
NM_133432.3:c.44116A>T (TTN) NP_597676.3:p.Lys14706Ter
NM_133437.4:c.44317A>T (TTN) NP_597681.4:p.Lys14773Ter
NR_038271.1:n.596+3747T>A (TTN-AS1)
NR_038272.1:n.2044-7376T>A (TTN-AS1)
ENST00000342175.10:c.44317A>T (TTN) ENSP00000340554.6:p.Lys14773Ter
ENST00000342175.11:c.44317A>T (TTN) ENSP00000340554.6:p.Lys14773Ter
ENST00000342992.10:c.63232A>T (TTN) ENSP00000343764.6:p.Lys21078Ter
ENST00000342992.11:c.63232A>T (TTN) ENSP00000343764.6:p.Lys21078Ter
ENST00000359218.10:c.44116A>T (TTN) ENSP00000352154.5:p.Lys14706Ter
ENST00000359218.9:c.44116A>T (TTN) ENSP00000352154.5:p.Lys14706Ter
ENST00000460472.6:c.43741A>T (TTN) ENSP00000434586.1:p.Lys14581Ter
ENST00000591111.5:c.66013A>T (TTN) ENSP00000465570.1:p.Lys22005Ter
ENST00000615779.4:c.66013A>T (TTN) ENSP00000483597.1:p.Lys22005Ter
XM_011511729.1:c.70033A>T (TTN) XP_011510031.1:p.Lys23345Ter
XM_011511730.1:c.43927A>T (TTN) XP_011510032.1:p.Lys14643Ter
XM_011511731.1:c.43786A>T (TTN) XP_011510033.1:p.Lys14596Ter
XM_017004819.1:c.69829A>T (TTN) XP_016860308.1:p.Lys23277Ter
XM_017004820.1:c.65227A>T (TTN) XP_016860309.1:p.Lys21743Ter
XM_017004821.1:c.65224A>T (TTN) XP_016860310.1:p.Lys21742Ter
XM_017004822.1:c.62266A>T (TTN) XP_016860311.1:p.Lys20756Ter
XM_017004823.1:c.43882A>T (TTN) XP_016860312.1:p.Lys14628Ter
XM_024453094.1:c.65377A>T (TTN) XP_024308862.1:p.Lys21793Ter
XM_024453095.1:c.65374A>T (TTN) XP_024308863.1:p.Lys21792Ter
XM_024453096.1:c.64807A>T (TTN) XP_024308864.1:p.Lys21603Ter
XM_024453097.1:c.62149A>T (TTN) XP_024308865.1:p.Lys20717Ter
XM_024453098.1:c.62068A>T (TTN) XP_024308866.1:p.Lys20690Ter
XM_024453099.1:c.43831A>T (TTN) XP_024308867.1:p.Lys14611Ter
XM_024453100.1:c.33685A>T (TTN) XP_024308868.1:p.Lys11229Ter