Canonical Allele Identifier: CA349406145

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530300A>T , CM000664.2:g.178530300A>T GRCh38
NC_000002.11:g.179395027A>T , CM000664.1:g.179395027A>T GRCh37
NC_000002.10:g.179103273A>T NCBI36
NG_011618.3:g.305503T>A , LRG_391:g.305503T>A
NG_051363.1:g.12474A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98611T>A (TTN) ENSP00000343764.6:p.Phe32871Ile
ENST00000342175.11:c.79696T>A (TTN) ENSP00000340554.6:p.Phe26566Ile
ENST00000359218.10:c.79495T>A (TTN) ENSP00000352154.5:p.Phe26499Ile
ENST00000342175.10:c.79696T>A (TTN) ENSP00000340554.6:p.Phe26566Ile
ENST00000342992.10:c.98611T>A (TTN) ENSP00000343764.6:p.Phe32871Ile
ENST00000359218.9:c.79495T>A (TTN) ENSP00000352154.5:p.Phe26499Ile
ENST00000460472.6:c.79120T>A (TTN) ENSP00000434586.1:p.Phe26374Ile
ENST00000589042.5:c.106315T>A (TTN) MANE Select ENSP00000467141.1:p.Phe35439Ile
ENST00000591111.5:c.101392T>A (TTN) ENSP00000465570.1:p.Phe33798Ile
ENST00000615779.4:c.101392T>A (TTN) ENSP00000483597.1:p.Phe33798Ile
NM_001256850.1:c.101392T>A (TTN) NP_001243779.1:p.Phe33798Ile
NM_001267550.2:c.106315T>A (TTN) MANE Select NP_001254479.2:p.Phe35439Ile
NM_003319.4:c.79120T>A (TTN) NP_003310.4:p.Phe26374Ile
NM_133378.4:c.98611T>A (TTN) NP_596869.4:p.Phe32871Ile
NM_133432.3:c.79495T>A (TTN) NP_597676.3:p.Phe26499Ile
NM_133437.4:c.79696T>A (TTN) NP_597681.4:p.Phe26566Ile
NR_038271.1:n.446+6664A>T (TTN-AS1)
NR_038272.1:n.220-5432A>T (TTN-AS1)
XM_011511729.1:c.105412T>A (TTN) XP_011510031.1:p.Phe35138Ile
XM_011511730.1:c.79306T>A (TTN) XP_011510032.1:p.Phe26436Ile
XM_011511731.1:c.79165T>A (TTN) XP_011510033.1:p.Phe26389Ile
XM_017004819.1:c.105208T>A (TTN) XP_016860308.1:p.Phe35070Ile
XM_017004820.1:c.100606T>A (TTN) XP_016860309.1:p.Phe33536Ile
XM_017004821.1:c.100603T>A (TTN) XP_016860310.1:p.Phe33535Ile
XM_017004822.1:c.97645T>A (TTN) XP_016860311.1:p.Phe32549Ile
XM_017004823.1:c.79261T>A (TTN) XP_016860312.1:p.Phe26421Ile
XM_024453094.1:c.100756T>A (TTN) XP_024308862.1:p.Phe33586Ile
XM_024453095.1:c.100753T>A (TTN) XP_024308863.1:p.Phe33585Ile
XM_024453096.1:c.100186T>A (TTN) XP_024308864.1:p.Phe33396Ile
XM_024453097.1:c.97528T>A (TTN) XP_024308865.1:p.Phe32510Ile
XM_024453098.1:c.97447T>A (TTN) XP_024308866.1:p.Phe32483Ile
XM_024453099.1:c.79210T>A (TTN) XP_024308867.1:p.Phe26404Ile
XM_024453100.1:c.69064T>A (TTN) XP_024308868.1:p.Phe23022Ile