Canonical Allele Identifier: CA349405967

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530267T>A , CM000664.2:g.178530267T>A GRCh38
NC_000002.11:g.179394994T>A , CM000664.1:g.179394994T>A GRCh37
NC_000002.10:g.179103240T>A NCBI36
NG_011618.3:g.305536A>T , LRG_391:g.305536A>T
NG_051363.1:g.12441T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98644A>T (TTN) ENSP00000343764.6:p.Thr32882Ser
ENST00000342175.11:c.79729A>T (TTN) ENSP00000340554.6:p.Thr26577Ser
ENST00000359218.10:c.79528A>T (TTN) ENSP00000352154.5:p.Thr26510Ser
ENST00000342175.10:c.79729A>T (TTN) ENSP00000340554.6:p.Thr26577Ser
ENST00000342992.10:c.98644A>T (TTN) ENSP00000343764.6:p.Thr32882Ser
ENST00000359218.9:c.79528A>T (TTN) ENSP00000352154.5:p.Thr26510Ser
ENST00000460472.6:c.79153A>T (TTN) ENSP00000434586.1:p.Thr26385Ser
ENST00000589042.5:c.106348A>T (TTN) MANE Select ENSP00000467141.1:p.Thr35450Ser
ENST00000591111.5:c.101425A>T (TTN) ENSP00000465570.1:p.Thr33809Ser
ENST00000615779.4:c.101425A>T (TTN) ENSP00000483597.1:p.Thr33809Ser
NM_001256850.1:c.101425A>T (TTN) NP_001243779.1:p.Thr33809Ser
NM_001267550.2:c.106348A>T (TTN) MANE Select NP_001254479.2:p.Thr35450Ser
NM_003319.4:c.79153A>T (TTN) NP_003310.4:p.Thr26385Ser
NM_133378.4:c.98644A>T (TTN) NP_596869.4:p.Thr32882Ser
NM_133432.3:c.79528A>T (TTN) NP_597676.3:p.Thr26510Ser
NM_133437.4:c.79729A>T (TTN) NP_597681.4:p.Thr26577Ser
NR_038271.1:n.446+6631T>A (TTN-AS1)
NR_038272.1:n.220-5465T>A (TTN-AS1)
XM_011511729.1:c.105445A>T (TTN) XP_011510031.1:p.Thr35149Ser
XM_011511730.1:c.79339A>T (TTN) XP_011510032.1:p.Thr26447Ser
XM_011511731.1:c.79198A>T (TTN) XP_011510033.1:p.Thr26400Ser
XM_017004819.1:c.105241A>T (TTN) XP_016860308.1:p.Thr35081Ser
XM_017004820.1:c.100639A>T (TTN) XP_016860309.1:p.Thr33547Ser
XM_017004821.1:c.100636A>T (TTN) XP_016860310.1:p.Thr33546Ser
XM_017004822.1:c.97678A>T (TTN) XP_016860311.1:p.Thr32560Ser
XM_017004823.1:c.79294A>T (TTN) XP_016860312.1:p.Thr26432Ser
XM_024453094.1:c.100789A>T (TTN) XP_024308862.1:p.Thr33597Ser
XM_024453095.1:c.100786A>T (TTN) XP_024308863.1:p.Thr33596Ser
XM_024453096.1:c.100219A>T (TTN) XP_024308864.1:p.Thr33407Ser
XM_024453097.1:c.97561A>T (TTN) XP_024308865.1:p.Thr32521Ser
XM_024453098.1:c.97480A>T (TTN) XP_024308866.1:p.Thr32494Ser
XM_024453099.1:c.79243A>T (TTN) XP_024308867.1:p.Thr26415Ser
XM_024453100.1:c.69097A>T (TTN) XP_024308868.1:p.Thr23033Ser