Canonical Allele Identifier: CA349541197

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178601547T>A , CM000664.2:g.178601547T>A GRCh38
NC_000002.11:g.179466274T>A , CM000664.1:g.179466274T>A GRCh37
NC_000002.10:g.179174519T>A NCBI36
NG_011618.3:g.234256A>T , LRG_391:g.234256A>T
NG_051363.1:g.83721T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.47746A>T (TTN) ENSP00000343764.6:p.Lys15916Ter
ENST00000342175.11:c.28831A>T (TTN) ENSP00000340554.6:p.Lys9611Ter
ENST00000359218.10:c.28630A>T (TTN) ENSP00000352154.5:p.Lys9544Ter
ENST00000342175.10:c.28831A>T (TTN) ENSP00000340554.6:p.Lys9611Ter
ENST00000342992.10:c.47746A>T (TTN) ENSP00000343764.6:p.Lys15916Ter
ENST00000359218.9:c.28630A>T (TTN) ENSP00000352154.5:p.Lys9544Ter
ENST00000460472.6:c.28255A>T (TTN) ENSP00000434586.1:p.Lys9419Ter
ENST00000589042.5:c.55450A>T (TTN) MANE Select ENSP00000467141.1:p.Lys18484Ter
ENST00000591111.5:c.50527A>T (TTN) ENSP00000465570.1:p.Lys16843Ter
ENST00000615779.4:c.50527A>T (TTN) ENSP00000483597.1:p.Lys16843Ter
NM_001256850.1:c.50527A>T (TTN) NP_001243779.1:p.Lys16843Ter
NM_001267550.2:c.55450A>T (TTN) MANE Select NP_001254479.2:p.Lys18484Ter
NM_003319.4:c.28255A>T (TTN) NP_003310.4:p.Lys9419Ter
NM_133378.4:c.47746A>T (TTN) NP_596869.4:p.Lys15916Ter
NM_133432.3:c.28630A>T (TTN) NP_597676.3:p.Lys9544Ter
NM_133437.4:c.28831A>T (TTN) NP_597681.4:p.Lys9611Ter
NR_038271.1:n.682+3866T>A (TTN-AS1)
NR_038272.1:n.3917+880T>A (TTN-AS1)
XM_011511729.1:c.54547A>T (TTN) XP_011510031.1:p.Lys18183Ter
XM_011511730.1:c.28441A>T (TTN) XP_011510032.1:p.Lys9481Ter
XM_011511731.1:c.28300A>T (TTN) XP_011510033.1:p.Lys9434Ter
XM_017004819.1:c.54343A>T (TTN) XP_016860308.1:p.Lys18115Ter
XM_017004820.1:c.49741A>T (TTN) XP_016860309.1:p.Lys16581Ter
XM_017004821.1:c.49738A>T (TTN) XP_016860310.1:p.Lys16580Ter
XM_017004822.1:c.46780A>T (TTN) XP_016860311.1:p.Lys15594Ter
XM_017004823.1:c.28396A>T (TTN) XP_016860312.1:p.Lys9466Ter
XM_024453094.1:c.49891A>T (TTN) XP_024308862.1:p.Lys16631Ter
XM_024453095.1:c.49888A>T (TTN) XP_024308863.1:p.Lys16630Ter
XM_024453096.1:c.49321A>T (TTN) XP_024308864.1:p.Lys16441Ter
XM_024453097.1:c.46663A>T (TTN) XP_024308865.1:p.Lys15555Ter
XM_024453098.1:c.46582A>T (TTN) XP_024308866.1:p.Lys15528Ter
XM_024453099.1:c.28345A>T (TTN) XP_024308867.1:p.Lys9449Ter
XM_024453100.1:c.18199A>T (TTN) XP_024308868.1:p.Lys6067Ter