Canonical Allele Identifier: CA349406861

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530456A>T , CM000664.2:g.178530456A>T GRCh38
NC_000002.11:g.179395183A>T , CM000664.1:g.179395183A>T GRCh37
NC_000002.10:g.179103429A>T NCBI36
NG_011618.3:g.305347T>A , LRG_391:g.305347T>A
NG_051363.1:g.12630A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98455T>A (TTN) ENSP00000343764.6:p.Ser32819Thr
ENST00000342175.11:c.79540T>A (TTN) ENSP00000340554.6:p.Ser26514Thr
ENST00000359218.10:c.79339T>A (TTN) ENSP00000352154.5:p.Ser26447Thr
ENST00000342175.10:c.79540T>A (TTN) ENSP00000340554.6:p.Ser26514Thr
ENST00000342992.10:c.98455T>A (TTN) ENSP00000343764.6:p.Ser32819Thr
ENST00000359218.9:c.79339T>A (TTN) ENSP00000352154.5:p.Ser26447Thr
ENST00000460472.6:c.78964T>A (TTN) ENSP00000434586.1:p.Ser26322Thr
ENST00000589042.5:c.106159T>A (TTN) MANE Select ENSP00000467141.1:p.Ser35387Thr
ENST00000591111.5:c.101236T>A (TTN) ENSP00000465570.1:p.Ser33746Thr
ENST00000615779.4:c.101236T>A (TTN) ENSP00000483597.1:p.Ser33746Thr
NM_001256850.1:c.101236T>A (TTN) NP_001243779.1:p.Ser33746Thr
NM_001267550.2:c.106159T>A (TTN) MANE Select NP_001254479.2:p.Ser35387Thr
NM_003319.4:c.78964T>A (TTN) NP_003310.4:p.Ser26322Thr
NM_133378.4:c.98455T>A (TTN) NP_596869.4:p.Ser32819Thr
NM_133432.3:c.79339T>A (TTN) NP_597676.3:p.Ser26447Thr
NM_133437.4:c.79540T>A (TTN) NP_597681.4:p.Ser26514Thr
NR_038271.1:n.446+6820A>T (TTN-AS1)
NR_038272.1:n.220-5276A>T (TTN-AS1)
XM_011511729.1:c.105256T>A (TTN) XP_011510031.1:p.Ser35086Thr
XM_011511730.1:c.79150T>A (TTN) XP_011510032.1:p.Ser26384Thr
XM_011511731.1:c.79009T>A (TTN) XP_011510033.1:p.Ser26337Thr
XM_017004819.1:c.105052T>A (TTN) XP_016860308.1:p.Ser35018Thr
XM_017004820.1:c.100450T>A (TTN) XP_016860309.1:p.Ser33484Thr
XM_017004821.1:c.100447T>A (TTN) XP_016860310.1:p.Ser33483Thr
XM_017004822.1:c.97489T>A (TTN) XP_016860311.1:p.Ser32497Thr
XM_017004823.1:c.79105T>A (TTN) XP_016860312.1:p.Ser26369Thr
XM_024453094.1:c.100600T>A (TTN) XP_024308862.1:p.Ser33534Thr
XM_024453095.1:c.100597T>A (TTN) XP_024308863.1:p.Ser33533Thr
XM_024453096.1:c.100030T>A (TTN) XP_024308864.1:p.Ser33344Thr
XM_024453097.1:c.97372T>A (TTN) XP_024308865.1:p.Ser32458Thr
XM_024453098.1:c.97291T>A (TTN) XP_024308866.1:p.Ser32431Thr
XM_024453099.1:c.79054T>A (TTN) XP_024308867.1:p.Ser26352Thr
XM_024453100.1:c.68908T>A (TTN) XP_024308868.1:p.Ser22970Thr