Canonical Allele Identifier: CA349627605
Community Standard Title: NM_001267550.2(TTN):c.46309A>T (p.Lys15437Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178620108T>A , CM000664.2:g.178620108T>A GRCh38
NC_000002.11:g.179484835T>A , CM000664.1:g.179484835T>A GRCh37
NC_000002.10:g.179193080T>A NCBI36
NG_011618.3:g.215695A>T , LRG_391:g.215695A>T
NG_051363.1:g.102282T>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.46309A>T (TTN) MANE Select NP_001254479.2:p.Lys15437Ter
ENST00000589042.5:c.46309A>T (TTN) MANE Select ENSP00000467141.1:p.Lys15437Ter
NM_001256850.1:c.41386A>T (TTN) NP_001243779.1:p.Lys13796Ter
NM_003319.4:c.19114A>T (TTN) NP_003310.4:p.Lys6372Ter
NM_133378.4:c.38605A>T (TTN) NP_596869.4:p.Lys12869Ter
NM_133432.3:c.19489A>T (TTN) NP_597676.3:p.Lys6497Ter
NM_133437.4:c.19690A>T (TTN) NP_597681.4:p.Lys6564Ter
NR_038271.1:n.1960T>A (TTN-AS1)
ENST00000342175.10:c.19690A>T (TTN) ENSP00000340554.6:p.Lys6564Ter
ENST00000342175.11:c.19690A>T (TTN) ENSP00000340554.6:p.Lys6564Ter
ENST00000342992.10:c.38605A>T (TTN) ENSP00000343764.6:p.Lys12869Ter
ENST00000342992.11:c.38605A>T (TTN) ENSP00000343764.6:p.Lys12869Ter
ENST00000359218.10:c.19489A>T (TTN) ENSP00000352154.5:p.Lys6497Ter
ENST00000359218.9:c.19489A>T (TTN) ENSP00000352154.5:p.Lys6497Ter
ENST00000460472.6:c.19114A>T (TTN) ENSP00000434586.1:p.Lys6372Ter
ENST00000591111.5:c.41386A>T (TTN) ENSP00000465570.1:p.Lys13796Ter
ENST00000615779.4:c.41386A>T (TTN) ENSP00000483597.1:p.Lys13796Ter
XM_011511729.1:c.45406A>T (TTN) XP_011510031.1:p.Lys15136Ter
XM_011511730.1:c.19300A>T (TTN) XP_011510032.1:p.Lys6434Ter
XM_011511731.1:c.19159A>T (TTN) XP_011510033.1:p.Lys6387Ter
XM_017004819.1:c.45202A>T (TTN) XP_016860308.1:p.Lys15068Ter
XM_017004820.1:c.40600A>T (TTN) XP_016860309.1:p.Lys13534Ter
XM_017004821.1:c.40597A>T (TTN) XP_016860310.1:p.Lys13533Ter
XM_017004822.1:c.37639A>T (TTN) XP_016860311.1:p.Lys12547Ter
XM_017004823.1:c.19255A>T (TTN) XP_016860312.1:p.Lys6419Ter
XM_024453094.1:c.40750A>T (TTN) XP_024308862.1:p.Lys13584Ter
XM_024453095.1:c.40747A>T (TTN) XP_024308863.1:p.Lys13583Ter
XM_024453096.1:c.40180A>T (TTN) XP_024308864.1:p.Lys13394Ter
XM_024453097.1:c.37522A>T (TTN) XP_024308865.1:p.Lys12508Ter
XM_024453098.1:c.37441A>T (TTN) XP_024308866.1:p.Lys12481Ter
XM_024453099.1:c.19204A>T (TTN) XP_024308867.1:p.Lys6402Ter
XM_024453100.1:c.9058A>T (TTN) XP_024308868.1:p.Lys3020Ter