Canonical Allele Identifier: CA349454497

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544112A>T , CM000664.2:g.178544112A>T GRCh38
NC_000002.11:g.179408839A>T , CM000664.1:g.179408839A>T GRCh37
NC_000002.10:g.179117085A>T NCBI36
NG_011618.3:g.291691T>A , LRG_391:g.291691T>A
NG_051363.1:g.26286A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88328T>A (TTN) ENSP00000343764.6:p.Ile29443Lys
ENST00000342175.11:c.69413T>A (TTN) ENSP00000340554.6:p.Ile23138Lys
ENST00000359218.10:c.69212T>A (TTN) ENSP00000352154.5:p.Ile23071Lys
ENST00000342175.10:c.69413T>A (TTN) ENSP00000340554.6:p.Ile23138Lys
ENST00000342992.10:c.88328T>A (TTN) ENSP00000343764.6:p.Ile29443Lys
ENST00000359218.9:c.69212T>A (TTN) ENSP00000352154.5:p.Ile23071Lys
ENST00000460472.6:c.68837T>A (TTN) ENSP00000434586.1:p.Ile22946Lys
ENST00000589042.5:c.96032T>A (TTN) MANE Select ENSP00000467141.1:p.Ile32011Lys
ENST00000591111.5:c.91109T>A (TTN) ENSP00000465570.1:p.Ile30370Lys
ENST00000615779.4:c.91109T>A (TTN) ENSP00000483597.1:p.Ile30370Lys
NM_001256850.1:c.91109T>A (TTN) NP_001243779.1:p.Ile30370Lys
NM_001267550.2:c.96032T>A (TTN) MANE Select NP_001254479.2:p.Ile32011Lys
NM_003319.4:c.68837T>A (TTN) NP_003310.4:p.Ile22946Lys
NM_133378.4:c.88328T>A (TTN) NP_596869.4:p.Ile29443Lys
NM_133432.3:c.69212T>A (TTN) NP_597676.3:p.Ile23071Lys
NM_133437.4:c.69413T>A (TTN) NP_597681.4:p.Ile23138Lys
NR_038271.1:n.446+20476A>T (TTN-AS1)
NR_038272.1:n.2043+1751A>T (TTN-AS1)
XM_011511729.1:c.95129T>A (TTN) XP_011510031.1:p.Ile31710Lys
XM_011511730.1:c.69023T>A (TTN) XP_011510032.1:p.Ile23008Lys
XM_011511731.1:c.68882T>A (TTN) XP_011510033.1:p.Ile22961Lys
XM_017004819.1:c.94925T>A (TTN) XP_016860308.1:p.Ile31642Lys
XM_017004820.1:c.90323T>A (TTN) XP_016860309.1:p.Ile30108Lys
XM_017004821.1:c.90320T>A (TTN) XP_016860310.1:p.Ile30107Lys
XM_017004822.1:c.87362T>A (TTN) XP_016860311.1:p.Ile29121Lys
XM_017004823.1:c.68978T>A (TTN) XP_016860312.1:p.Ile22993Lys
XM_024453094.1:c.90473T>A (TTN) XP_024308862.1:p.Ile30158Lys
XM_024453095.1:c.90470T>A (TTN) XP_024308863.1:p.Ile30157Lys
XM_024453096.1:c.89903T>A (TTN) XP_024308864.1:p.Ile29968Lys
XM_024453097.1:c.87245T>A (TTN) XP_024308865.1:p.Ile29082Lys
XM_024453098.1:c.87164T>A (TTN) XP_024308866.1:p.Ile29055Lys
XM_024453099.1:c.68927T>A (TTN) XP_024308867.1:p.Ile22976Lys
XM_024453100.1:c.58781T>A (TTN) XP_024308868.1:p.Ile19594Lys