Canonical Allele Identifier: CA349546170

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178602430T>G , CM000664.2:g.178602430T>G GRCh38
NC_000002.11:g.179467157T>G , CM000664.1:g.179467157T>G GRCh37
NC_000002.10:g.179175402T>G NCBI36
NG_011618.3:g.233373A>C , LRG_391:g.233373A>C
NG_051363.1:g.84604T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.47268A>C (TTN) ENSP00000343764.6:p.Glu15756Asp
ENST00000342175.11:c.28353A>C (TTN) ENSP00000340554.6:p.Glu9451Asp
ENST00000359218.10:c.28152A>C (TTN) ENSP00000352154.5:p.Glu9384Asp
ENST00000342175.10:c.28353A>C (TTN) ENSP00000340554.6:p.Glu9451Asp
ENST00000342992.10:c.47268A>C (TTN) ENSP00000343764.6:p.Glu15756Asp
ENST00000359218.9:c.28152A>C (TTN) ENSP00000352154.5:p.Glu9384Asp
ENST00000460472.6:c.27777A>C (TTN) ENSP00000434586.1:p.Glu9259Asp
ENST00000589042.5:c.54972A>C (TTN) MANE Select ENSP00000467141.1:p.Glu18324Asp
ENST00000591111.5:c.50049A>C (TTN) ENSP00000465570.1:p.Glu16683Asp
ENST00000615779.4:c.50049A>C (TTN) ENSP00000483597.1:p.Glu16683Asp
NM_001256850.1:c.50049A>C (TTN) NP_001243779.1:p.Glu16683Asp
NM_001267550.2:c.54972A>C (TTN) MANE Select NP_001254479.2:p.Glu18324Asp
NM_003319.4:c.27777A>C (TTN) NP_003310.4:p.Glu9259Asp
NM_133378.4:c.47268A>C (TTN) NP_596869.4:p.Glu15756Asp
NM_133432.3:c.28152A>C (TTN) NP_597676.3:p.Glu9384Asp
NM_133437.4:c.28353A>C (TTN) NP_597681.4:p.Glu9451Asp
NR_038271.1:n.682+4749T>G (TTN-AS1)
NR_038272.1:n.3917+1763T>G (TTN-AS1)
XM_011511729.1:c.54069A>C (TTN) XP_011510031.1:p.Glu18023Asp
XM_011511730.1:c.27963A>C (TTN) XP_011510032.1:p.Glu9321Asp
XM_011511731.1:c.27822A>C (TTN) XP_011510033.1:p.Glu9274Asp
XM_017004819.1:c.53865A>C (TTN) XP_016860308.1:p.Glu17955Asp
XM_017004820.1:c.49263A>C (TTN) XP_016860309.1:p.Glu16421Asp
XM_017004821.1:c.49260A>C (TTN) XP_016860310.1:p.Glu16420Asp
XM_017004822.1:c.46302A>C (TTN) XP_016860311.1:p.Glu15434Asp
XM_017004823.1:c.27918A>C (TTN) XP_016860312.1:p.Glu9306Asp
XM_024453094.1:c.49413A>C (TTN) XP_024308862.1:p.Glu16471Asp
XM_024453095.1:c.49410A>C (TTN) XP_024308863.1:p.Glu16470Asp
XM_024453096.1:c.48843A>C (TTN) XP_024308864.1:p.Glu16281Asp
XM_024453097.1:c.46185A>C (TTN) XP_024308865.1:p.Glu15395Asp
XM_024453098.1:c.46104A>C (TTN) XP_024308866.1:p.Glu15368Asp
XM_024453099.1:c.27867A>C (TTN) XP_024308867.1:p.Glu9289Asp
XM_024453100.1:c.17721A>C (TTN) XP_024308868.1:p.Glu5907Asp