Canonical Allele Identifier: CA349427858

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178537602A>T , CM000664.2:g.178537602A>T GRCh38
NC_000002.11:g.179402329A>T , CM000664.1:g.179402329A>T GRCh37
NC_000002.10:g.179110575A>T NCBI36
NG_011618.3:g.298201T>A , LRG_391:g.298201T>A
NG_051363.1:g.19776A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.91901T>A (TTN) ENSP00000343764.6:p.Leu30634Gln
ENST00000342175.11:c.72986T>A (TTN) ENSP00000340554.6:p.Leu24329Gln
ENST00000359218.10:c.72785T>A (TTN) ENSP00000352154.5:p.Leu24262Gln
ENST00000342175.10:c.72986T>A (TTN) ENSP00000340554.6:p.Leu24329Gln
ENST00000342992.10:c.91901T>A (TTN) ENSP00000343764.6:p.Leu30634Gln
ENST00000359218.9:c.72785T>A (TTN) ENSP00000352154.5:p.Leu24262Gln
ENST00000460472.6:c.72410T>A (TTN) ENSP00000434586.1:p.Leu24137Gln
ENST00000589042.5:c.99605T>A (TTN) MANE Select ENSP00000467141.1:p.Leu33202Gln
ENST00000591111.5:c.94682T>A (TTN) ENSP00000465570.1:p.Leu31561Gln
ENST00000615779.4:c.94682T>A (TTN) ENSP00000483597.1:p.Leu31561Gln
NM_001256850.1:c.94682T>A (TTN) NP_001243779.1:p.Leu31561Gln
NM_001267550.2:c.99605T>A (TTN) MANE Select NP_001254479.2:p.Leu33202Gln
NM_003319.4:c.72410T>A (TTN) NP_003310.4:p.Leu24137Gln
NM_133378.4:c.91901T>A (TTN) NP_596869.4:p.Leu30634Gln
NM_133432.3:c.72785T>A (TTN) NP_597676.3:p.Leu24262Gln
NM_133437.4:c.72986T>A (TTN) NP_597681.4:p.Leu24329Gln
NR_038271.1:n.446+13966A>T (TTN-AS1)
NR_038272.1:n.558A>T (TTN-AS1)
XM_011511729.1:c.98702T>A (TTN) XP_011510031.1:p.Leu32901Gln
XM_011511730.1:c.72596T>A (TTN) XP_011510032.1:p.Leu24199Gln
XM_011511731.1:c.72455T>A (TTN) XP_011510033.1:p.Leu24152Gln
XM_017004819.1:c.98498T>A (TTN) XP_016860308.1:p.Leu32833Gln
XM_017004820.1:c.93896T>A (TTN) XP_016860309.1:p.Leu31299Gln
XM_017004821.1:c.93893T>A (TTN) XP_016860310.1:p.Leu31298Gln
XM_017004822.1:c.90935T>A (TTN) XP_016860311.1:p.Leu30312Gln
XM_017004823.1:c.72551T>A (TTN) XP_016860312.1:p.Leu24184Gln
XM_024453094.1:c.94046T>A (TTN) XP_024308862.1:p.Leu31349Gln
XM_024453095.1:c.94043T>A (TTN) XP_024308863.1:p.Leu31348Gln
XM_024453096.1:c.93476T>A (TTN) XP_024308864.1:p.Leu31159Gln
XM_024453097.1:c.90818T>A (TTN) XP_024308865.1:p.Leu30273Gln
XM_024453098.1:c.90737T>A (TTN) XP_024308866.1:p.Leu30246Gln
XM_024453099.1:c.72500T>A (TTN) XP_024308867.1:p.Leu24167Gln
XM_024453100.1:c.62354T>A (TTN) XP_024308868.1:p.Leu20785Gln