Canonical Allele Identifier: CA349400878
Community Standard Title: NM_001267550.2(TTN):c.107456A>G (p.Gln35819Arg)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178527670T>C , CM000664.2:g.178527670T>C GRCh38
NC_000002.11:g.179392397T>C , CM000664.1:g.179392397T>C GRCh37
NC_000002.10:g.179100643T>C NCBI36
NG_011618.3:g.308133A>G , LRG_391:g.308133A>G
NG_051363.1:g.9844T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.107456A>G (TTN) MANE Select NP_001254479.2:p.Gln35819Arg
ENST00000589042.5:c.107456A>G (TTN) MANE Select ENSP00000467141.1:p.Gln35819Arg
NM_001256850.1:c.102533A>G (TTN) NP_001243779.1:p.Gln34178Arg
NM_003319.4:c.80261A>G (TTN) NP_003310.4:p.Gln26754Arg
NM_133378.4:c.99752A>G (TTN) NP_596869.4:p.Gln33251Arg
NM_133432.3:c.80636A>G (TTN) NP_597676.3:p.Gln26879Arg
NM_133437.4:c.80837A>G (TTN) NP_597681.4:p.Gln26946Arg
NR_038271.1:n.446+4034T>C (TTN-AS1)
NR_038272.1:n.219+4034T>C (TTN-AS1)
ENST00000342175.10:c.80837A>G (TTN) ENSP00000340554.6:p.Gln26946Arg
ENST00000342175.11:c.80837A>G (TTN) ENSP00000340554.6:p.Gln26946Arg
ENST00000342992.10:c.99752A>G (TTN) ENSP00000343764.6:p.Gln33251Arg
ENST00000342992.11:c.99752A>G (TTN) ENSP00000343764.6:p.Gln33251Arg
ENST00000359218.10:c.80636A>G (TTN) ENSP00000352154.5:p.Gln26879Arg
ENST00000359218.9:c.80636A>G (TTN) ENSP00000352154.5:p.Gln26879Arg
ENST00000460472.6:c.80261A>G (TTN) ENSP00000434586.1:p.Gln26754Arg
ENST00000591111.5:c.102533A>G (TTN) ENSP00000465570.1:p.Gln34178Arg
ENST00000615779.4:c.102533A>G (TTN) ENSP00000483597.1:p.Gln34178Arg
XM_011511729.1:c.106553A>G (TTN) XP_011510031.1:p.Gln35518Arg
XM_011511730.1:c.80447A>G (TTN) XP_011510032.1:p.Gln26816Arg
XM_011511731.1:c.80306A>G (TTN) XP_011510033.1:p.Gln26769Arg
XM_017004819.1:c.106349A>G (TTN) XP_016860308.1:p.Gln35450Arg
XM_017004820.1:c.101747A>G (TTN) XP_016860309.1:p.Gln33916Arg
XM_017004821.1:c.101744A>G (TTN) XP_016860310.1:p.Gln33915Arg
XM_017004822.1:c.98786A>G (TTN) XP_016860311.1:p.Gln32929Arg
XM_017004823.1:c.80402A>G (TTN) XP_016860312.1:p.Gln26801Arg
XM_024453094.1:c.101897A>G (TTN) XP_024308862.1:p.Gln33966Arg
XM_024453095.1:c.101894A>G (TTN) XP_024308863.1:p.Gln33965Arg
XM_024453096.1:c.101327A>G (TTN) XP_024308864.1:p.Gln33776Arg
XM_024453097.1:c.98669A>G (TTN) XP_024308865.1:p.Gln32890Arg
XM_024453098.1:c.98588A>G (TTN) XP_024308866.1:p.Gln32863Arg
XM_024453099.1:c.80351A>G (TTN) XP_024308867.1:p.Gln26784Arg
XM_024453100.1:c.70205A>G (TTN) XP_024308868.1:p.Gln23402Arg