Canonical Allele Identifier: CA349406142

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530299A>T , CM000664.2:g.178530299A>T GRCh38
NC_000002.11:g.179395026A>T , CM000664.1:g.179395026A>T GRCh37
NC_000002.10:g.179103272A>T NCBI36
NG_011618.3:g.305504T>A , LRG_391:g.305504T>A
NG_051363.1:g.12473A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98612T>A (TTN) ENSP00000343764.6:p.Phe32871Tyr
ENST00000342175.11:c.79697T>A (TTN) ENSP00000340554.6:p.Phe26566Tyr
ENST00000359218.10:c.79496T>A (TTN) ENSP00000352154.5:p.Phe26499Tyr
ENST00000342175.10:c.79697T>A (TTN) ENSP00000340554.6:p.Phe26566Tyr
ENST00000342992.10:c.98612T>A (TTN) ENSP00000343764.6:p.Phe32871Tyr
ENST00000359218.9:c.79496T>A (TTN) ENSP00000352154.5:p.Phe26499Tyr
ENST00000460472.6:c.79121T>A (TTN) ENSP00000434586.1:p.Phe26374Tyr
ENST00000589042.5:c.106316T>A (TTN) MANE Select ENSP00000467141.1:p.Phe35439Tyr
ENST00000591111.5:c.101393T>A (TTN) ENSP00000465570.1:p.Phe33798Tyr
ENST00000615779.4:c.101393T>A (TTN) ENSP00000483597.1:p.Phe33798Tyr
NM_001256850.1:c.101393T>A (TTN) NP_001243779.1:p.Phe33798Tyr
NM_001267550.2:c.106316T>A (TTN) MANE Select NP_001254479.2:p.Phe35439Tyr
NM_003319.4:c.79121T>A (TTN) NP_003310.4:p.Phe26374Tyr
NM_133378.4:c.98612T>A (TTN) NP_596869.4:p.Phe32871Tyr
NM_133432.3:c.79496T>A (TTN) NP_597676.3:p.Phe26499Tyr
NM_133437.4:c.79697T>A (TTN) NP_597681.4:p.Phe26566Tyr
NR_038271.1:n.446+6663A>T (TTN-AS1)
NR_038272.1:n.220-5433A>T (TTN-AS1)
XM_011511729.1:c.105413T>A (TTN) XP_011510031.1:p.Phe35138Tyr
XM_011511730.1:c.79307T>A (TTN) XP_011510032.1:p.Phe26436Tyr
XM_011511731.1:c.79166T>A (TTN) XP_011510033.1:p.Phe26389Tyr
XM_017004819.1:c.105209T>A (TTN) XP_016860308.1:p.Phe35070Tyr
XM_017004820.1:c.100607T>A (TTN) XP_016860309.1:p.Phe33536Tyr
XM_017004821.1:c.100604T>A (TTN) XP_016860310.1:p.Phe33535Tyr
XM_017004822.1:c.97646T>A (TTN) XP_016860311.1:p.Phe32549Tyr
XM_017004823.1:c.79262T>A (TTN) XP_016860312.1:p.Phe26421Tyr
XM_024453094.1:c.100757T>A (TTN) XP_024308862.1:p.Phe33586Tyr
XM_024453095.1:c.100754T>A (TTN) XP_024308863.1:p.Phe33585Tyr
XM_024453096.1:c.100187T>A (TTN) XP_024308864.1:p.Phe33396Tyr
XM_024453097.1:c.97529T>A (TTN) XP_024308865.1:p.Phe32510Tyr
XM_024453098.1:c.97448T>A (TTN) XP_024308866.1:p.Phe32483Tyr
XM_024453099.1:c.79211T>A (TTN) XP_024308867.1:p.Phe26404Tyr
XM_024453100.1:c.69065T>A (TTN) XP_024308868.1:p.Phe23022Tyr