Canonical Allele Identifier: CA349664663

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178575990T>A , CM000664.2:g.178575990T>A GRCh38
NC_000002.11:g.179440717T>A , CM000664.1:g.179440717T>A GRCh37
NC_000002.10:g.179148963T>A NCBI36
NG_011618.3:g.259813A>T , LRG_391:g.259813A>T
NG_051363.1:g.58164T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.62438A>T (TTN) ENSP00000343764.6:p.Asp20813Val
ENST00000342175.11:c.43523A>T (TTN) ENSP00000340554.6:p.Asp14508Val
ENST00000359218.10:c.43322A>T (TTN) ENSP00000352154.5:p.Asp14441Val
ENST00000342175.10:c.43523A>T (TTN) ENSP00000340554.6:p.Asp14508Val
ENST00000342992.10:c.62438A>T (TTN) ENSP00000343764.6:p.Asp20813Val
ENST00000359218.9:c.43322A>T (TTN) ENSP00000352154.5:p.Asp14441Val
ENST00000460472.6:c.42947A>T (TTN) ENSP00000434586.1:p.Asp14316Val
ENST00000589042.5:c.70142A>T (TTN) MANE Select ENSP00000467141.1:p.Asp23381Val
ENST00000591111.5:c.65219A>T (TTN) ENSP00000465570.1:p.Asp21740Val
ENST00000615779.4:c.65219A>T (TTN) ENSP00000483597.1:p.Asp21740Val
NM_001256850.1:c.65219A>T (TTN) NP_001243779.1:p.Asp21740Val
NM_001267550.2:c.70142A>T (TTN) MANE Select NP_001254479.2:p.Asp23381Val
NM_003319.4:c.42947A>T (TTN) NP_003310.4:p.Asp14316Val
NM_133378.4:c.62438A>T (TTN) NP_596869.4:p.Asp20813Val
NM_133432.3:c.43322A>T (TTN) NP_597676.3:p.Asp14441Val
NM_133437.4:c.43523A>T (TTN) NP_597681.4:p.Asp14508Val
NR_038271.1:n.596+4541T>A (TTN-AS1)
NR_038272.1:n.2044-6582T>A (TTN-AS1)
XM_011511729.1:c.69239A>T (TTN) XP_011510031.1:p.Asp23080Val
XM_011511730.1:c.43133A>T (TTN) XP_011510032.1:p.Asp14378Val
XM_011511731.1:c.42992A>T (TTN) XP_011510033.1:p.Asp14331Val
XM_017004819.1:c.69035A>T (TTN) XP_016860308.1:p.Asp23012Val
XM_017004820.1:c.64433A>T (TTN) XP_016860309.1:p.Asp21478Val
XM_017004821.1:c.64430A>T (TTN) XP_016860310.1:p.Asp21477Val
XM_017004822.1:c.61472A>T (TTN) XP_016860311.1:p.Asp20491Val
XM_017004823.1:c.43088A>T (TTN) XP_016860312.1:p.Asp14363Val
XM_024453094.1:c.64583A>T (TTN) XP_024308862.1:p.Asp21528Val
XM_024453095.1:c.64580A>T (TTN) XP_024308863.1:p.Asp21527Val
XM_024453096.1:c.64013A>T (TTN) XP_024308864.1:p.Asp21338Val
XM_024453097.1:c.61355A>T (TTN) XP_024308865.1:p.Asp20452Val
XM_024453098.1:c.61274A>T (TTN) XP_024308866.1:p.Asp20425Val
XM_024453099.1:c.43037A>T (TTN) XP_024308867.1:p.Asp14346Val
XM_024453100.1:c.32891A>T (TTN) XP_024308868.1:p.Asp10964Val