Canonical Allele Identifier: CA349405336

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530065A>C , CM000664.2:g.178530065A>C GRCh38
NC_000002.11:g.179394792A>C , CM000664.1:g.179394792A>C GRCh37
NC_000002.10:g.179103038A>C NCBI36
NG_011618.3:g.305738T>G , LRG_391:g.305738T>G
NG_051363.1:g.12239A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98722T>G (TTN) ENSP00000343764.6:p.Phe32908Val
ENST00000342175.11:c.79807T>G (TTN) ENSP00000340554.6:p.Phe26603Val
ENST00000359218.10:c.79606T>G (TTN) ENSP00000352154.5:p.Phe26536Val
ENST00000342175.10:c.79807T>G (TTN) ENSP00000340554.6:p.Phe26603Val
ENST00000342992.10:c.98722T>G (TTN) ENSP00000343764.6:p.Phe32908Val
ENST00000359218.9:c.79606T>G (TTN) ENSP00000352154.5:p.Phe26536Val
ENST00000460472.6:c.79231T>G (TTN) ENSP00000434586.1:p.Phe26411Val
ENST00000589042.5:c.106426T>G (TTN) MANE Select ENSP00000467141.1:p.Phe35476Val
ENST00000591111.5:c.101503T>G (TTN) ENSP00000465570.1:p.Phe33835Val
ENST00000615779.4:c.101503T>G (TTN) ENSP00000483597.1:p.Phe33835Val
NM_001256850.1:c.101503T>G (TTN) NP_001243779.1:p.Phe33835Val
NM_001267550.2:c.106426T>G (TTN) MANE Select NP_001254479.2:p.Phe35476Val
NM_003319.4:c.79231T>G (TTN) NP_003310.4:p.Phe26411Val
NM_133378.4:c.98722T>G (TTN) NP_596869.4:p.Phe32908Val
NM_133432.3:c.79606T>G (TTN) NP_597676.3:p.Phe26536Val
NM_133437.4:c.79807T>G (TTN) NP_597681.4:p.Phe26603Val
NR_038271.1:n.446+6429A>C (TTN-AS1)
NR_038272.1:n.220-5667A>C (TTN-AS1)
XM_011511729.1:c.105523T>G (TTN) XP_011510031.1:p.Phe35175Val
XM_011511730.1:c.79417T>G (TTN) XP_011510032.1:p.Phe26473Val
XM_011511731.1:c.79276T>G (TTN) XP_011510033.1:p.Phe26426Val
XM_017004819.1:c.105319T>G (TTN) XP_016860308.1:p.Phe35107Val
XM_017004820.1:c.100717T>G (TTN) XP_016860309.1:p.Phe33573Val
XM_017004821.1:c.100714T>G (TTN) XP_016860310.1:p.Phe33572Val
XM_017004822.1:c.97756T>G (TTN) XP_016860311.1:p.Phe32586Val
XM_017004823.1:c.79372T>G (TTN) XP_016860312.1:p.Phe26458Val
XM_024453094.1:c.100867T>G (TTN) XP_024308862.1:p.Phe33623Val
XM_024453095.1:c.100864T>G (TTN) XP_024308863.1:p.Phe33622Val
XM_024453096.1:c.100297T>G (TTN) XP_024308864.1:p.Phe33433Val
XM_024453097.1:c.97639T>G (TTN) XP_024308865.1:p.Phe32547Val
XM_024453098.1:c.97558T>G (TTN) XP_024308866.1:p.Phe32520Val
XM_024453099.1:c.79321T>G (TTN) XP_024308867.1:p.Phe26441Val
XM_024453100.1:c.69175T>G (TTN) XP_024308868.1:p.Phe23059Val