Canonical Allele Identifier: CA349413753
Community Standard Title: NM_001267550.2(TTN):c.103678A>T (p.Lys34560Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532937T>A , CM000664.2:g.178532937T>A GRCh38
NC_000002.11:g.179397664T>A , CM000664.1:g.179397664T>A GRCh37
NC_000002.10:g.179105910T>A NCBI36
NG_011618.3:g.302866A>T , LRG_391:g.302866A>T
NG_051363.1:g.15111T>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.103678A>T (TTN) MANE Select NP_001254479.2:p.Lys34560Ter
ENST00000589042.5:c.103678A>T (TTN) MANE Select ENSP00000467141.1:p.Lys34560Ter
NM_001256850.1:c.98755A>T (TTN) NP_001243779.1:p.Lys32919Ter
NM_003319.4:c.76483A>T (TTN) NP_003310.4:p.Lys25495Ter
NM_133378.4:c.95974A>T (TTN) NP_596869.4:p.Lys31992Ter
NM_133432.3:c.76858A>T (TTN) NP_597676.3:p.Lys25620Ter
NM_133437.4:c.77059A>T (TTN) NP_597681.4:p.Lys25687Ter
NR_038271.1:n.446+9301T>A (TTN-AS1)
NR_038272.1:n.220-2795T>A (TTN-AS1)
ENST00000342175.10:c.77059A>T (TTN) ENSP00000340554.6:p.Lys25687Ter
ENST00000342175.11:c.77059A>T (TTN) ENSP00000340554.6:p.Lys25687Ter
ENST00000342992.10:c.95974A>T (TTN) ENSP00000343764.6:p.Lys31992Ter
ENST00000342992.11:c.95974A>T (TTN) ENSP00000343764.6:p.Lys31992Ter
ENST00000359218.10:c.76858A>T (TTN) ENSP00000352154.5:p.Lys25620Ter
ENST00000359218.9:c.76858A>T (TTN) ENSP00000352154.5:p.Lys25620Ter
ENST00000460472.6:c.76483A>T (TTN) ENSP00000434586.1:p.Lys25495Ter
ENST00000591111.5:c.98755A>T (TTN) ENSP00000465570.1:p.Lys32919Ter
ENST00000615779.4:c.98755A>T (TTN) ENSP00000483597.1:p.Lys32919Ter
XM_011511729.1:c.102775A>T (TTN) XP_011510031.1:p.Lys34259Ter
XM_011511730.1:c.76669A>T (TTN) XP_011510032.1:p.Lys25557Ter
XM_011511731.1:c.76528A>T (TTN) XP_011510033.1:p.Lys25510Ter
XM_017004819.1:c.102571A>T (TTN) XP_016860308.1:p.Lys34191Ter
XM_017004820.1:c.97969A>T (TTN) XP_016860309.1:p.Lys32657Ter
XM_017004821.1:c.97966A>T (TTN) XP_016860310.1:p.Lys32656Ter
XM_017004822.1:c.95008A>T (TTN) XP_016860311.1:p.Lys31670Ter
XM_017004823.1:c.76624A>T (TTN) XP_016860312.1:p.Lys25542Ter
XM_024453094.1:c.98119A>T (TTN) XP_024308862.1:p.Lys32707Ter
XM_024453095.1:c.98116A>T (TTN) XP_024308863.1:p.Lys32706Ter
XM_024453096.1:c.97549A>T (TTN) XP_024308864.1:p.Lys32517Ter
XM_024453097.1:c.94891A>T (TTN) XP_024308865.1:p.Lys31631Ter
XM_024453098.1:c.94810A>T (TTN) XP_024308866.1:p.Lys31604Ter
XM_024453099.1:c.76573A>T (TTN) XP_024308867.1:p.Lys25525Ter
XM_024453100.1:c.66427A>T (TTN) XP_024308868.1:p.Lys22143Ter