Canonical Allele Identifier: CA349408047
Community Standard Title: NM_001267550.2(TTN):c.105703A>T (p.Lys35235Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530912T>A , CM000664.2:g.178530912T>A GRCh38
NC_000002.11:g.179395639T>A , CM000664.1:g.179395639T>A GRCh37
NC_000002.10:g.179103885T>A NCBI36
NG_011618.3:g.304891A>T , LRG_391:g.304891A>T
NG_051363.1:g.13086T>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.105703A>T (TTN) MANE Select NP_001254479.2:p.Lys35235Ter
ENST00000589042.5:c.105703A>T (TTN) MANE Select ENSP00000467141.1:p.Lys35235Ter
NM_001256850.1:c.100780A>T (TTN) NP_001243779.1:p.Lys33594Ter
NM_003319.4:c.78508A>T (TTN) NP_003310.4:p.Lys26170Ter
NM_133378.4:c.97999A>T (TTN) NP_596869.4:p.Lys32667Ter
NM_133432.3:c.78883A>T (TTN) NP_597676.3:p.Lys26295Ter
NM_133437.4:c.79084A>T (TTN) NP_597681.4:p.Lys26362Ter
NR_038271.1:n.446+7276T>A (TTN-AS1)
NR_038272.1:n.220-4820T>A (TTN-AS1)
ENST00000342175.10:c.79084A>T (TTN) ENSP00000340554.6:p.Lys26362Ter
ENST00000342175.11:c.79084A>T (TTN) ENSP00000340554.6:p.Lys26362Ter
ENST00000342992.10:c.97999A>T (TTN) ENSP00000343764.6:p.Lys32667Ter
ENST00000342992.11:c.97999A>T (TTN) ENSP00000343764.6:p.Lys32667Ter
ENST00000359218.10:c.78883A>T (TTN) ENSP00000352154.5:p.Lys26295Ter
ENST00000359218.9:c.78883A>T (TTN) ENSP00000352154.5:p.Lys26295Ter
ENST00000460472.6:c.78508A>T (TTN) ENSP00000434586.1:p.Lys26170Ter
ENST00000591111.5:c.100780A>T (TTN) ENSP00000465570.1:p.Lys33594Ter
ENST00000615779.4:c.100780A>T (TTN) ENSP00000483597.1:p.Lys33594Ter
XM_011511729.1:c.104800A>T (TTN) XP_011510031.1:p.Lys34934Ter
XM_011511730.1:c.78694A>T (TTN) XP_011510032.1:p.Lys26232Ter
XM_011511731.1:c.78553A>T (TTN) XP_011510033.1:p.Lys26185Ter
XM_017004819.1:c.104596A>T (TTN) XP_016860308.1:p.Lys34866Ter
XM_017004820.1:c.99994A>T (TTN) XP_016860309.1:p.Lys33332Ter
XM_017004821.1:c.99991A>T (TTN) XP_016860310.1:p.Lys33331Ter
XM_017004822.1:c.97033A>T (TTN) XP_016860311.1:p.Lys32345Ter
XM_017004823.1:c.78649A>T (TTN) XP_016860312.1:p.Lys26217Ter
XM_024453094.1:c.100144A>T (TTN) XP_024308862.1:p.Lys33382Ter
XM_024453095.1:c.100141A>T (TTN) XP_024308863.1:p.Lys33381Ter
XM_024453096.1:c.99574A>T (TTN) XP_024308864.1:p.Lys33192Ter
XM_024453097.1:c.96916A>T (TTN) XP_024308865.1:p.Lys32306Ter
XM_024453098.1:c.96835A>T (TTN) XP_024308866.1:p.Lys32279Ter
XM_024453099.1:c.78598A>T (TTN) XP_024308867.1:p.Lys26200Ter
XM_024453100.1:c.68452A>T (TTN) XP_024308868.1:p.Lys22818Ter