Canonical Allele Identifier: CA349407260

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530618G>T , CM000664.2:g.178530618G>T GRCh38
NC_000002.11:g.179395345G>T , CM000664.1:g.179395345G>T GRCh37
NC_000002.10:g.179103591G>T NCBI36
NG_011618.3:g.305185C>A , LRG_391:g.305185C>A
NG_051363.1:g.12792G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98293C>A (TTN) ENSP00000343764.6:p.Gln32765Lys
ENST00000342175.11:c.79378C>A (TTN) ENSP00000340554.6:p.Gln26460Lys
ENST00000359218.10:c.79177C>A (TTN) ENSP00000352154.5:p.Gln26393Lys
ENST00000342175.10:c.79378C>A (TTN) ENSP00000340554.6:p.Gln26460Lys
ENST00000342992.10:c.98293C>A (TTN) ENSP00000343764.6:p.Gln32765Lys
ENST00000359218.9:c.79177C>A (TTN) ENSP00000352154.5:p.Gln26393Lys
ENST00000460472.6:c.78802C>A (TTN) ENSP00000434586.1:p.Gln26268Lys
ENST00000589042.5:c.105997C>A (TTN) MANE Select ENSP00000467141.1:p.Gln35333Lys
ENST00000591111.5:c.101074C>A (TTN) ENSP00000465570.1:p.Gln33692Lys
ENST00000615779.4:c.101074C>A (TTN) ENSP00000483597.1:p.Gln33692Lys
NM_001256850.1:c.101074C>A (TTN) NP_001243779.1:p.Gln33692Lys
NM_001267550.2:c.105997C>A (TTN) MANE Select NP_001254479.2:p.Gln35333Lys
NM_003319.4:c.78802C>A (TTN) NP_003310.4:p.Gln26268Lys
NM_133378.4:c.98293C>A (TTN) NP_596869.4:p.Gln32765Lys
NM_133432.3:c.79177C>A (TTN) NP_597676.3:p.Gln26393Lys
NM_133437.4:c.79378C>A (TTN) NP_597681.4:p.Gln26460Lys
NR_038271.1:n.446+6982G>T (TTN-AS1)
NR_038272.1:n.220-5114G>T (TTN-AS1)
XM_011511729.1:c.105094C>A (TTN) XP_011510031.1:p.Gln35032Lys
XM_011511730.1:c.78988C>A (TTN) XP_011510032.1:p.Gln26330Lys
XM_011511731.1:c.78847C>A (TTN) XP_011510033.1:p.Gln26283Lys
XM_017004819.1:c.104890C>A (TTN) XP_016860308.1:p.Gln34964Lys
XM_017004820.1:c.100288C>A (TTN) XP_016860309.1:p.Gln33430Lys
XM_017004821.1:c.100285C>A (TTN) XP_016860310.1:p.Gln33429Lys
XM_017004822.1:c.97327C>A (TTN) XP_016860311.1:p.Gln32443Lys
XM_017004823.1:c.78943C>A (TTN) XP_016860312.1:p.Gln26315Lys
XM_024453094.1:c.100438C>A (TTN) XP_024308862.1:p.Gln33480Lys
XM_024453095.1:c.100435C>A (TTN) XP_024308863.1:p.Gln33479Lys
XM_024453096.1:c.99868C>A (TTN) XP_024308864.1:p.Gln33290Lys
XM_024453097.1:c.97210C>A (TTN) XP_024308865.1:p.Gln32404Lys
XM_024453098.1:c.97129C>A (TTN) XP_024308866.1:p.Gln32377Lys
XM_024453099.1:c.78892C>A (TTN) XP_024308867.1:p.Gln26298Lys
XM_024453100.1:c.68746C>A (TTN) XP_024308868.1:p.Gln22916Lys