Canonical Allele Identifier: CA349471150

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178546722A>T , CM000664.2:g.178546722A>T GRCh38
NC_000002.11:g.179411449A>T , CM000664.1:g.179411449A>T GRCh37
NC_000002.10:g.179119695A>T NCBI36
NG_011618.3:g.289081T>A , LRG_391:g.289081T>A
NG_051363.1:g.28896A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.87002T>A (TTN) ENSP00000343764.6:p.Phe29001Tyr
ENST00000342175.11:c.68087T>A (TTN) ENSP00000340554.6:p.Phe22696Tyr
ENST00000359218.10:c.67886T>A (TTN) ENSP00000352154.5:p.Phe22629Tyr
ENST00000342175.10:c.68087T>A (TTN) ENSP00000340554.6:p.Phe22696Tyr
ENST00000342992.10:c.87002T>A (TTN) ENSP00000343764.6:p.Phe29001Tyr
ENST00000359218.9:c.67886T>A (TTN) ENSP00000352154.5:p.Phe22629Tyr
ENST00000460472.6:c.67511T>A (TTN) ENSP00000434586.1:p.Phe22504Tyr
ENST00000589042.5:c.94706T>A (TTN) MANE Select ENSP00000467141.1:p.Phe31569Tyr
ENST00000591111.5:c.89783T>A (TTN) ENSP00000465570.1:p.Phe29928Tyr
ENST00000615779.4:c.89783T>A (TTN) ENSP00000483597.1:p.Phe29928Tyr
NM_001256850.1:c.89783T>A (TTN) NP_001243779.1:p.Phe29928Tyr
NM_001267550.2:c.94706T>A (TTN) MANE Select NP_001254479.2:p.Phe31569Tyr
NM_003319.4:c.67511T>A (TTN) NP_003310.4:p.Phe22504Tyr
NM_133378.4:c.87002T>A (TTN) NP_596869.4:p.Phe29001Tyr
NM_133432.3:c.67886T>A (TTN) NP_597676.3:p.Phe22629Tyr
NM_133437.4:c.68087T>A (TTN) NP_597681.4:p.Phe22696Tyr
NR_038271.1:n.446+23086A>T (TTN-AS1)
NR_038272.1:n.2043+4361A>T (TTN-AS1)
XM_011511729.1:c.93803T>A (TTN) XP_011510031.1:p.Phe31268Tyr
XM_011511730.1:c.67697T>A (TTN) XP_011510032.1:p.Phe22566Tyr
XM_011511731.1:c.67556T>A (TTN) XP_011510033.1:p.Phe22519Tyr
XM_017004819.1:c.93599T>A (TTN) XP_016860308.1:p.Phe31200Tyr
XM_017004820.1:c.88997T>A (TTN) XP_016860309.1:p.Phe29666Tyr
XM_017004821.1:c.88994T>A (TTN) XP_016860310.1:p.Phe29665Tyr
XM_017004822.1:c.86036T>A (TTN) XP_016860311.1:p.Phe28679Tyr
XM_017004823.1:c.67652T>A (TTN) XP_016860312.1:p.Phe22551Tyr
XM_024453094.1:c.89147T>A (TTN) XP_024308862.1:p.Phe29716Tyr
XM_024453095.1:c.89144T>A (TTN) XP_024308863.1:p.Phe29715Tyr
XM_024453096.1:c.88577T>A (TTN) XP_024308864.1:p.Phe29526Tyr
XM_024453097.1:c.85919T>A (TTN) XP_024308865.1:p.Phe28640Tyr
XM_024453098.1:c.85838T>A (TTN) XP_024308866.1:p.Phe28613Tyr
XM_024453099.1:c.67601T>A (TTN) XP_024308867.1:p.Phe22534Tyr
XM_024453100.1:c.57455T>A (TTN) XP_024308868.1:p.Phe19152Tyr