Canonical Allele Identifier: CA349456314

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544341G>A , CM000664.2:g.178544341G>A GRCh38
NC_000002.11:g.179409068G>A , CM000664.1:g.179409068G>A GRCh37
NC_000002.10:g.179117314G>A NCBI36
NG_011618.3:g.291462C>T , LRG_391:g.291462C>T
NG_051363.1:g.26515G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88184C>T (TTN) ENSP00000343764.6:p.Ala29395Val
ENST00000342175.11:c.69269C>T (TTN) ENSP00000340554.6:p.Ala23090Val
ENST00000359218.10:c.69068C>T (TTN) ENSP00000352154.5:p.Ala23023Val
ENST00000342175.10:c.69269C>T (TTN) ENSP00000340554.6:p.Ala23090Val
ENST00000342992.10:c.88184C>T (TTN) ENSP00000343764.6:p.Ala29395Val
ENST00000359218.9:c.69068C>T (TTN) ENSP00000352154.5:p.Ala23023Val
ENST00000460472.6:c.68693C>T (TTN) ENSP00000434586.1:p.Ala22898Val
ENST00000589042.5:c.95888C>T (TTN) MANE Select ENSP00000467141.1:p.Ala31963Val
ENST00000591111.5:c.90965C>T (TTN) ENSP00000465570.1:p.Ala30322Val
ENST00000615779.4:c.90965C>T (TTN) ENSP00000483597.1:p.Ala30322Val
NM_001256850.1:c.90965C>T (TTN) NP_001243779.1:p.Ala30322Val
NM_001267550.2:c.95888C>T (TTN) MANE Select NP_001254479.2:p.Ala31963Val
NM_003319.4:c.68693C>T (TTN) NP_003310.4:p.Ala22898Val
NM_133378.4:c.88184C>T (TTN) NP_596869.4:p.Ala29395Val
NM_133432.3:c.69068C>T (TTN) NP_597676.3:p.Ala23023Val
NM_133437.4:c.69269C>T (TTN) NP_597681.4:p.Ala23090Val
NR_038271.1:n.446+20705G>A (TTN-AS1)
NR_038272.1:n.2043+1980G>A (TTN-AS1)
XM_011511729.1:c.94985C>T (TTN) XP_011510031.1:p.Ala31662Val
XM_011511730.1:c.68879C>T (TTN) XP_011510032.1:p.Ala22960Val
XM_011511731.1:c.68738C>T (TTN) XP_011510033.1:p.Ala22913Val
XM_017004819.1:c.94781C>T (TTN) XP_016860308.1:p.Ala31594Val
XM_017004820.1:c.90179C>T (TTN) XP_016860309.1:p.Ala30060Val
XM_017004821.1:c.90176C>T (TTN) XP_016860310.1:p.Ala30059Val
XM_017004822.1:c.87218C>T (TTN) XP_016860311.1:p.Ala29073Val
XM_017004823.1:c.68834C>T (TTN) XP_016860312.1:p.Ala22945Val
XM_024453094.1:c.90329C>T (TTN) XP_024308862.1:p.Ala30110Val
XM_024453095.1:c.90326C>T (TTN) XP_024308863.1:p.Ala30109Val
XM_024453096.1:c.89759C>T (TTN) XP_024308864.1:p.Ala29920Val
XM_024453097.1:c.87101C>T (TTN) XP_024308865.1:p.Ala29034Val
XM_024453098.1:c.87020C>T (TTN) XP_024308866.1:p.Ala29007Val
XM_024453099.1:c.68783C>T (TTN) XP_024308867.1:p.Ala22928Val
XM_024453100.1:c.58637C>T (TTN) XP_024308868.1:p.Ala19546Val