Canonical Allele Identifier: CA61004208
Community Standard Title: NM_001267550.2(TTN):c.69458A>C (p.Lys23153Thr)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178576786T>G , CM000664.2:g.178576786T>G GRCh38
NC_000002.11:g.179441513T>G , CM000664.1:g.179441513T>G GRCh37
NC_000002.10:g.179149759T>G NCBI36
NG_011618.3:g.259017A>C , LRG_391:g.259017A>C
NG_051363.1:g.58960T>G

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.69458A>C (TTN) MANE Select NP_001254479.2:p.Lys23153Thr
ENST00000589042.5:c.69458A>C (TTN) MANE Select ENSP00000467141.1:p.Lys23153Thr
NM_001256850.1:c.64535A>C (TTN) NP_001243779.1:p.Lys21512Thr
NM_003319.4:c.42263A>C (TTN) NP_003310.4:p.Lys14088Thr
NM_133378.4:c.61754A>C (TTN) NP_596869.4:p.Lys20585Thr
NM_133432.3:c.42638A>C (TTN) NP_597676.3:p.Lys14213Thr
NM_133437.4:c.42839A>C (TTN) NP_597681.4:p.Lys14280Thr
NR_038271.1:n.596+5337T>G (TTN-AS1)
NR_038272.1:n.2044-5786T>G (TTN-AS1)
ENST00000342175.10:c.42839A>C (TTN) ENSP00000340554.6:p.Lys14280Thr
ENST00000342175.11:c.42839A>C (TTN) ENSP00000340554.6:p.Lys14280Thr
ENST00000342992.10:c.61754A>C (TTN) ENSP00000343764.6:p.Lys20585Thr
ENST00000342992.11:c.61754A>C (TTN) ENSP00000343764.6:p.Lys20585Thr
ENST00000359218.10:c.42638A>C (TTN) ENSP00000352154.5:p.Lys14213Thr
ENST00000359218.9:c.42638A>C (TTN) ENSP00000352154.5:p.Lys14213Thr
ENST00000460472.6:c.42263A>C (TTN) ENSP00000434586.1:p.Lys14088Thr
ENST00000591111.5:c.64535A>C (TTN) ENSP00000465570.1:p.Lys21512Thr
ENST00000615779.4:c.64535A>C (TTN) ENSP00000483597.1:p.Lys21512Thr
XM_011511729.1:c.68555A>C (TTN) XP_011510031.1:p.Lys22852Thr
XM_011511730.1:c.42449A>C (TTN) XP_011510032.1:p.Lys14150Thr
XM_011511731.1:c.42308A>C (TTN) XP_011510033.1:p.Lys14103Thr
XM_017004819.1:c.68351A>C (TTN) XP_016860308.1:p.Lys22784Thr
XM_017004820.1:c.63749A>C (TTN) XP_016860309.1:p.Lys21250Thr
XM_017004821.1:c.63746A>C (TTN) XP_016860310.1:p.Lys21249Thr
XM_017004822.1:c.60788A>C (TTN) XP_016860311.1:p.Lys20263Thr
XM_017004823.1:c.42404A>C (TTN) XP_016860312.1:p.Lys14135Thr
XM_024453094.1:c.63899A>C (TTN) XP_024308862.1:p.Lys21300Thr
XM_024453095.1:c.63896A>C (TTN) XP_024308863.1:p.Lys21299Thr
XM_024453096.1:c.63329A>C (TTN) XP_024308864.1:p.Lys21110Thr
XM_024453097.1:c.60671A>C (TTN) XP_024308865.1:p.Lys20224Thr
XM_024453098.1:c.60590A>C (TTN) XP_024308866.1:p.Lys20197Thr
XM_024453099.1:c.42353A>C (TTN) XP_024308867.1:p.Lys14118Thr
XM_024453100.1:c.32207A>C (TTN) XP_024308868.1:p.Lys10736Thr