Canonical Allele Identifier: CA349407162

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530574A>T , CM000664.2:g.178530574A>T GRCh38
NC_000002.11:g.179395301A>T , CM000664.1:g.179395301A>T GRCh37
NC_000002.10:g.179103547A>T NCBI36
NG_011618.3:g.305229T>A , LRG_391:g.305229T>A
NG_051363.1:g.12748A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98337T>A (TTN) ENSP00000343764.6:p.Asn32779Lys
ENST00000342175.11:c.79422T>A (TTN) ENSP00000340554.6:p.Asn26474Lys
ENST00000359218.10:c.79221T>A (TTN) ENSP00000352154.5:p.Asn26407Lys
ENST00000342175.10:c.79422T>A (TTN) ENSP00000340554.6:p.Asn26474Lys
ENST00000342992.10:c.98337T>A (TTN) ENSP00000343764.6:p.Asn32779Lys
ENST00000359218.9:c.79221T>A (TTN) ENSP00000352154.5:p.Asn26407Lys
ENST00000460472.6:c.78846T>A (TTN) ENSP00000434586.1:p.Asn26282Lys
ENST00000589042.5:c.106041T>A (TTN) MANE Select ENSP00000467141.1:p.Asn35347Lys
ENST00000591111.5:c.101118T>A (TTN) ENSP00000465570.1:p.Asn33706Lys
ENST00000615779.4:c.101118T>A (TTN) ENSP00000483597.1:p.Asn33706Lys
NM_001256850.1:c.101118T>A (TTN) NP_001243779.1:p.Asn33706Lys
NM_001267550.2:c.106041T>A (TTN) MANE Select NP_001254479.2:p.Asn35347Lys
NM_003319.4:c.78846T>A (TTN) NP_003310.4:p.Asn26282Lys
NM_133378.4:c.98337T>A (TTN) NP_596869.4:p.Asn32779Lys
NM_133432.3:c.79221T>A (TTN) NP_597676.3:p.Asn26407Lys
NM_133437.4:c.79422T>A (TTN) NP_597681.4:p.Asn26474Lys
NR_038271.1:n.446+6938A>T (TTN-AS1)
NR_038272.1:n.220-5158A>T (TTN-AS1)
XM_011511729.1:c.105138T>A (TTN) XP_011510031.1:p.Asn35046Lys
XM_011511730.1:c.79032T>A (TTN) XP_011510032.1:p.Asn26344Lys
XM_011511731.1:c.78891T>A (TTN) XP_011510033.1:p.Asn26297Lys
XM_017004819.1:c.104934T>A (TTN) XP_016860308.1:p.Asn34978Lys
XM_017004820.1:c.100332T>A (TTN) XP_016860309.1:p.Asn33444Lys
XM_017004821.1:c.100329T>A (TTN) XP_016860310.1:p.Asn33443Lys
XM_017004822.1:c.97371T>A (TTN) XP_016860311.1:p.Asn32457Lys
XM_017004823.1:c.78987T>A (TTN) XP_016860312.1:p.Asn26329Lys
XM_024453094.1:c.100482T>A (TTN) XP_024308862.1:p.Asn33494Lys
XM_024453095.1:c.100479T>A (TTN) XP_024308863.1:p.Asn33493Lys
XM_024453096.1:c.99912T>A (TTN) XP_024308864.1:p.Asn33304Lys
XM_024453097.1:c.97254T>A (TTN) XP_024308865.1:p.Asn32418Lys
XM_024453098.1:c.97173T>A (TTN) XP_024308866.1:p.Asn32391Lys
XM_024453099.1:c.78936T>A (TTN) XP_024308867.1:p.Asn26312Lys
XM_024453100.1:c.68790T>A (TTN) XP_024308868.1:p.Asn22930Lys