Canonical Allele Identifier: CA349411935

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532265A>T , CM000664.2:g.178532265A>T GRCh38
NC_000002.11:g.179396992A>T , CM000664.1:g.179396992A>T GRCh37
NC_000002.10:g.179105238A>T NCBI36
NG_011618.3:g.303538T>A , LRG_391:g.303538T>A
NG_051363.1:g.14439A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96646T>A (TTN) ENSP00000343764.6:p.Ser32216Thr
ENST00000342175.11:c.77731T>A (TTN) ENSP00000340554.6:p.Ser25911Thr
ENST00000359218.10:c.77530T>A (TTN) ENSP00000352154.5:p.Ser25844Thr
ENST00000342175.10:c.77731T>A (TTN) ENSP00000340554.6:p.Ser25911Thr
ENST00000342992.10:c.96646T>A (TTN) ENSP00000343764.6:p.Ser32216Thr
ENST00000359218.9:c.77530T>A (TTN) ENSP00000352154.5:p.Ser25844Thr
ENST00000460472.6:c.77155T>A (TTN) ENSP00000434586.1:p.Ser25719Thr
ENST00000589042.5:c.104350T>A (TTN) MANE Select ENSP00000467141.1:p.Ser34784Thr
ENST00000591111.5:c.99427T>A (TTN) ENSP00000465570.1:p.Ser33143Thr
ENST00000615779.4:c.99427T>A (TTN) ENSP00000483597.1:p.Ser33143Thr
NM_001256850.1:c.99427T>A (TTN) NP_001243779.1:p.Ser33143Thr
NM_001267550.2:c.104350T>A (TTN) MANE Select NP_001254479.2:p.Ser34784Thr
NM_003319.4:c.77155T>A (TTN) NP_003310.4:p.Ser25719Thr
NM_133378.4:c.96646T>A (TTN) NP_596869.4:p.Ser32216Thr
NM_133432.3:c.77530T>A (TTN) NP_597676.3:p.Ser25844Thr
NM_133437.4:c.77731T>A (TTN) NP_597681.4:p.Ser25911Thr
NR_038271.1:n.446+8629A>T (TTN-AS1)
NR_038272.1:n.220-3467A>T (TTN-AS1)
XM_011511729.1:c.103447T>A (TTN) XP_011510031.1:p.Ser34483Thr
XM_011511730.1:c.77341T>A (TTN) XP_011510032.1:p.Ser25781Thr
XM_011511731.1:c.77200T>A (TTN) XP_011510033.1:p.Ser25734Thr
XM_017004819.1:c.103243T>A (TTN) XP_016860308.1:p.Ser34415Thr
XM_017004820.1:c.98641T>A (TTN) XP_016860309.1:p.Ser32881Thr
XM_017004821.1:c.98638T>A (TTN) XP_016860310.1:p.Ser32880Thr
XM_017004822.1:c.95680T>A (TTN) XP_016860311.1:p.Ser31894Thr
XM_017004823.1:c.77296T>A (TTN) XP_016860312.1:p.Ser25766Thr
XM_024453094.1:c.98791T>A (TTN) XP_024308862.1:p.Ser32931Thr
XM_024453095.1:c.98788T>A (TTN) XP_024308863.1:p.Ser32930Thr
XM_024453096.1:c.98221T>A (TTN) XP_024308864.1:p.Ser32741Thr
XM_024453097.1:c.95563T>A (TTN) XP_024308865.1:p.Ser31855Thr
XM_024453098.1:c.95482T>A (TTN) XP_024308866.1:p.Ser31828Thr
XM_024453099.1:c.77245T>A (TTN) XP_024308867.1:p.Ser25749Thr
XM_024453100.1:c.67099T>A (TTN) XP_024308868.1:p.Ser22367Thr