Canonical Allele Identifier: CA349407229

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530606A>T , CM000664.2:g.178530606A>T GRCh38
NC_000002.11:g.179395333A>T , CM000664.1:g.179395333A>T GRCh37
NC_000002.10:g.179103579A>T NCBI36
NG_011618.3:g.305197T>A , LRG_391:g.305197T>A
NG_051363.1:g.12780A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98305T>A (TTN) ENSP00000343764.6:p.Ser32769Thr
ENST00000342175.11:c.79390T>A (TTN) ENSP00000340554.6:p.Ser26464Thr
ENST00000359218.10:c.79189T>A (TTN) ENSP00000352154.5:p.Ser26397Thr
ENST00000342175.10:c.79390T>A (TTN) ENSP00000340554.6:p.Ser26464Thr
ENST00000342992.10:c.98305T>A (TTN) ENSP00000343764.6:p.Ser32769Thr
ENST00000359218.9:c.79189T>A (TTN) ENSP00000352154.5:p.Ser26397Thr
ENST00000460472.6:c.78814T>A (TTN) ENSP00000434586.1:p.Ser26272Thr
ENST00000589042.5:c.106009T>A (TTN) MANE Select ENSP00000467141.1:p.Ser35337Thr
ENST00000591111.5:c.101086T>A (TTN) ENSP00000465570.1:p.Ser33696Thr
ENST00000615779.4:c.101086T>A (TTN) ENSP00000483597.1:p.Ser33696Thr
NM_001256850.1:c.101086T>A (TTN) NP_001243779.1:p.Ser33696Thr
NM_001267550.2:c.106009T>A (TTN) MANE Select NP_001254479.2:p.Ser35337Thr
NM_003319.4:c.78814T>A (TTN) NP_003310.4:p.Ser26272Thr
NM_133378.4:c.98305T>A (TTN) NP_596869.4:p.Ser32769Thr
NM_133432.3:c.79189T>A (TTN) NP_597676.3:p.Ser26397Thr
NM_133437.4:c.79390T>A (TTN) NP_597681.4:p.Ser26464Thr
NR_038271.1:n.446+6970A>T (TTN-AS1)
NR_038272.1:n.220-5126A>T (TTN-AS1)
XM_011511729.1:c.105106T>A (TTN) XP_011510031.1:p.Ser35036Thr
XM_011511730.1:c.79000T>A (TTN) XP_011510032.1:p.Ser26334Thr
XM_011511731.1:c.78859T>A (TTN) XP_011510033.1:p.Ser26287Thr
XM_017004819.1:c.104902T>A (TTN) XP_016860308.1:p.Ser34968Thr
XM_017004820.1:c.100300T>A (TTN) XP_016860309.1:p.Ser33434Thr
XM_017004821.1:c.100297T>A (TTN) XP_016860310.1:p.Ser33433Thr
XM_017004822.1:c.97339T>A (TTN) XP_016860311.1:p.Ser32447Thr
XM_017004823.1:c.78955T>A (TTN) XP_016860312.1:p.Ser26319Thr
XM_024453094.1:c.100450T>A (TTN) XP_024308862.1:p.Ser33484Thr
XM_024453095.1:c.100447T>A (TTN) XP_024308863.1:p.Ser33483Thr
XM_024453096.1:c.99880T>A (TTN) XP_024308864.1:p.Ser33294Thr
XM_024453097.1:c.97222T>A (TTN) XP_024308865.1:p.Ser32408Thr
XM_024453098.1:c.97141T>A (TTN) XP_024308866.1:p.Ser32381Thr
XM_024453099.1:c.78904T>A (TTN) XP_024308867.1:p.Ser26302Thr
XM_024453100.1:c.68758T>A (TTN) XP_024308868.1:p.Ser22920Thr