Canonical Allele Identifier: CA349407158

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530573T>A , CM000664.2:g.178530573T>A GRCh38
NC_000002.11:g.179395300T>A , CM000664.1:g.179395300T>A GRCh37
NC_000002.10:g.179103546T>A NCBI36
NG_011618.3:g.305230A>T , LRG_391:g.305230A>T
NG_051363.1:g.12747T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98338A>T (TTN) ENSP00000343764.6:p.Asn32780Tyr
ENST00000342175.11:c.79423A>T (TTN) ENSP00000340554.6:p.Asn26475Tyr
ENST00000359218.10:c.79222A>T (TTN) ENSP00000352154.5:p.Asn26408Tyr
ENST00000342175.10:c.79423A>T (TTN) ENSP00000340554.6:p.Asn26475Tyr
ENST00000342992.10:c.98338A>T (TTN) ENSP00000343764.6:p.Asn32780Tyr
ENST00000359218.9:c.79222A>T (TTN) ENSP00000352154.5:p.Asn26408Tyr
ENST00000460472.6:c.78847A>T (TTN) ENSP00000434586.1:p.Asn26283Tyr
ENST00000589042.5:c.106042A>T (TTN) MANE Select ENSP00000467141.1:p.Asn35348Tyr
ENST00000591111.5:c.101119A>T (TTN) ENSP00000465570.1:p.Asn33707Tyr
ENST00000615779.4:c.101119A>T (TTN) ENSP00000483597.1:p.Asn33707Tyr
NM_001256850.1:c.101119A>T (TTN) NP_001243779.1:p.Asn33707Tyr
NM_001267550.2:c.106042A>T (TTN) MANE Select NP_001254479.2:p.Asn35348Tyr
NM_003319.4:c.78847A>T (TTN) NP_003310.4:p.Asn26283Tyr
NM_133378.4:c.98338A>T (TTN) NP_596869.4:p.Asn32780Tyr
NM_133432.3:c.79222A>T (TTN) NP_597676.3:p.Asn26408Tyr
NM_133437.4:c.79423A>T (TTN) NP_597681.4:p.Asn26475Tyr
NR_038271.1:n.446+6937T>A (TTN-AS1)
NR_038272.1:n.220-5159T>A (TTN-AS1)
XM_011511729.1:c.105139A>T (TTN) XP_011510031.1:p.Asn35047Tyr
XM_011511730.1:c.79033A>T (TTN) XP_011510032.1:p.Asn26345Tyr
XM_011511731.1:c.78892A>T (TTN) XP_011510033.1:p.Asn26298Tyr
XM_017004819.1:c.104935A>T (TTN) XP_016860308.1:p.Asn34979Tyr
XM_017004820.1:c.100333A>T (TTN) XP_016860309.1:p.Asn33445Tyr
XM_017004821.1:c.100330A>T (TTN) XP_016860310.1:p.Asn33444Tyr
XM_017004822.1:c.97372A>T (TTN) XP_016860311.1:p.Asn32458Tyr
XM_017004823.1:c.78988A>T (TTN) XP_016860312.1:p.Asn26330Tyr
XM_024453094.1:c.100483A>T (TTN) XP_024308862.1:p.Asn33495Tyr
XM_024453095.1:c.100480A>T (TTN) XP_024308863.1:p.Asn33494Tyr
XM_024453096.1:c.99913A>T (TTN) XP_024308864.1:p.Asn33305Tyr
XM_024453097.1:c.97255A>T (TTN) XP_024308865.1:p.Asn32419Tyr
XM_024453098.1:c.97174A>T (TTN) XP_024308866.1:p.Asn32392Tyr
XM_024453099.1:c.78937A>T (TTN) XP_024308867.1:p.Asn26313Tyr
XM_024453100.1:c.68791A>T (TTN) XP_024308868.1:p.Asn22931Tyr