Canonical Allele Identifier: CA349405442

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530079T>A , CM000664.2:g.178530079T>A GRCh38
NC_000002.11:g.179394806T>A , CM000664.1:g.179394806T>A GRCh37
NC_000002.10:g.179103052T>A NCBI36
NG_011618.3:g.305724A>T , LRG_391:g.305724A>T
NG_051363.1:g.12253T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98708A>T (TTN) ENSP00000343764.6:p.Asp32903Val
ENST00000342175.11:c.79793A>T (TTN) ENSP00000340554.6:p.Asp26598Val
ENST00000359218.10:c.79592A>T (TTN) ENSP00000352154.5:p.Asp26531Val
ENST00000342175.10:c.79793A>T (TTN) ENSP00000340554.6:p.Asp26598Val
ENST00000342992.10:c.98708A>T (TTN) ENSP00000343764.6:p.Asp32903Val
ENST00000359218.9:c.79592A>T (TTN) ENSP00000352154.5:p.Asp26531Val
ENST00000460472.6:c.79217A>T (TTN) ENSP00000434586.1:p.Asp26406Val
ENST00000589042.5:c.106412A>T (TTN) MANE Select ENSP00000467141.1:p.Asp35471Val
ENST00000591111.5:c.101489A>T (TTN) ENSP00000465570.1:p.Asp33830Val
ENST00000615779.4:c.101489A>T (TTN) ENSP00000483597.1:p.Asp33830Val
NM_001256850.1:c.101489A>T (TTN) NP_001243779.1:p.Asp33830Val
NM_001267550.2:c.106412A>T (TTN) MANE Select NP_001254479.2:p.Asp35471Val
NM_003319.4:c.79217A>T (TTN) NP_003310.4:p.Asp26406Val
NM_133378.4:c.98708A>T (TTN) NP_596869.4:p.Asp32903Val
NM_133432.3:c.79592A>T (TTN) NP_597676.3:p.Asp26531Val
NM_133437.4:c.79793A>T (TTN) NP_597681.4:p.Asp26598Val
NR_038271.1:n.446+6443T>A (TTN-AS1)
NR_038272.1:n.220-5653T>A (TTN-AS1)
XM_011511729.1:c.105509A>T (TTN) XP_011510031.1:p.Asp35170Val
XM_011511730.1:c.79403A>T (TTN) XP_011510032.1:p.Asp26468Val
XM_011511731.1:c.79262A>T (TTN) XP_011510033.1:p.Asp26421Val
XM_017004819.1:c.105305A>T (TTN) XP_016860308.1:p.Asp35102Val
XM_017004820.1:c.100703A>T (TTN) XP_016860309.1:p.Asp33568Val
XM_017004821.1:c.100700A>T (TTN) XP_016860310.1:p.Asp33567Val
XM_017004822.1:c.97742A>T (TTN) XP_016860311.1:p.Asp32581Val
XM_017004823.1:c.79358A>T (TTN) XP_016860312.1:p.Asp26453Val
XM_024453094.1:c.100853A>T (TTN) XP_024308862.1:p.Asp33618Val
XM_024453095.1:c.100850A>T (TTN) XP_024308863.1:p.Asp33617Val
XM_024453096.1:c.100283A>T (TTN) XP_024308864.1:p.Asp33428Val
XM_024453097.1:c.97625A>T (TTN) XP_024308865.1:p.Asp32542Val
XM_024453098.1:c.97544A>T (TTN) XP_024308866.1:p.Asp32515Val
XM_024453099.1:c.79307A>T (TTN) XP_024308867.1:p.Asp26436Val
XM_024453100.1:c.69161A>T (TTN) XP_024308868.1:p.Asp23054Val