Canonical Allele Identifier: CA1993456
Community Standard Title: NM_001267550.2(TTN):c.55432+10A>G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178601648T>C , CM000664.2:g.178601648T>C GRCh38
NC_000002.11:g.179466375T>C , CM000664.1:g.179466375T>C GRCh37
NC_000002.10:g.179174620T>C NCBI36
NG_011618.3:g.234155A>G , LRG_391:g.234155A>G
NG_051363.1:g.83822T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.55432+10A>G (TTN) MANE Select NP_001254479.2:n.55432+10A>G
ENST00000589042.5:c.55432+10A>G (TTN) MANE Select ENSP00000467141.1:n.55432+10A>G
NM_001256850.1:c.50509+10A>G (TTN) NP_001243779.1:n.50509+10A>G
NM_003319.4:c.28237+10A>G (TTN) NP_003310.4:n.28237+10A>G
NM_133378.4:c.47728+10A>G (TTN) NP_596869.4:n.47728+10A>G
NM_133432.3:c.28612+10A>G (TTN) NP_597676.3:n.28612+10A>G
NM_133437.4:c.28813+10A>G (TTN) NP_597681.4:n.28813+10A>G
NR_038271.1:n.682+3967T>C (TTN-AS1)
NR_038272.1:n.3917+981T>C (TTN-AS1)
ENST00000342175.10:c.28813+10A>G (TTN) ENSP00000340554.6:n.28813+10A>G
ENST00000342175.11:c.28813+10A>G (TTN) ENSP00000340554.6:n.28813+10A>G
ENST00000342992.10:c.47728+10A>G (TTN) ENSP00000343764.6:n.47728+10A>G
ENST00000342992.11:c.47728+10A>G (TTN) ENSP00000343764.6:n.47728+10A>G
ENST00000359218.10:c.28612+10A>G (TTN) ENSP00000352154.5:n.28612+10A>G
ENST00000359218.9:c.28612+10A>G (TTN) ENSP00000352154.5:n.28612+10A>G
ENST00000460472.6:c.28237+10A>G (TTN) ENSP00000434586.1:n.28237+10A>G
ENST00000591111.5:c.50509+10A>G (TTN) ENSP00000465570.1:n.50509+10A>G
ENST00000615779.4:c.50509+10A>G (TTN) ENSP00000483597.1:n.50509+10A>G
XM_011511729.1:c.54529+10A>G (TTN) XP_011510031.1:n.54529+10A>G
XM_011511730.1:c.28423+10A>G (TTN) XP_011510032.1:n.28423+10A>G
XM_011511731.1:c.28282+10A>G (TTN) XP_011510033.1:n.28282+10A>G
XM_017004819.1:c.54325+10A>G (TTN) XP_016860308.1:n.54325+10A>G
XM_017004820.1:c.49723+10A>G (TTN) XP_016860309.1:n.49723+10A>G
XM_017004821.1:c.49720+10A>G (TTN) XP_016860310.1:n.49720+10A>G
XM_017004822.1:c.46762+10A>G (TTN) XP_016860311.1:n.46762+10A>G
XM_017004823.1:c.28378+10A>G (TTN) XP_016860312.1:n.28378+10A>G
XM_024453094.1:c.49873+10A>G (TTN) XP_024308862.1:n.49873+10A>G
XM_024453095.1:c.49870+10A>G (TTN) XP_024308863.1:n.49870+10A>G
XM_024453096.1:c.49303+10A>G (TTN) XP_024308864.1:n.49303+10A>G
XM_024453097.1:c.46645+10A>G (TTN) XP_024308865.1:n.46645+10A>G
XM_024453098.1:c.46564+10A>G (TTN) XP_024308866.1:n.46564+10A>G
XM_024453099.1:c.28327+10A>G (TTN) XP_024308867.1:n.28327+10A>G
XM_024453100.1:c.18181+10A>G (TTN) XP_024308868.1:n.18181+10A>G