Canonical Allele Identifier: CA349519032

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178553642C>A , CM000664.2:g.178553642C>A GRCh38
NC_000002.11:g.179418369C>A , CM000664.1:g.179418369C>A GRCh37
NC_000002.10:g.179126615C>A NCBI36
NG_011618.3:g.282161G>T , LRG_391:g.282161G>T
NG_051363.1:g.35816C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.81659G>T (TTN) ENSP00000343764.6:p.Gly27220Val
ENST00000342175.11:c.62744G>T (TTN) ENSP00000340554.6:p.Gly20915Val
ENST00000359218.10:c.62543G>T (TTN) ENSP00000352154.5:p.Gly20848Val
ENST00000342175.10:c.62744G>T (TTN) ENSP00000340554.6:p.Gly20915Val
ENST00000342992.10:c.81659G>T (TTN) ENSP00000343764.6:p.Gly27220Val
ENST00000359218.9:c.62543G>T (TTN) ENSP00000352154.5:p.Gly20848Val
ENST00000460472.6:c.62168G>T (TTN) ENSP00000434586.1:p.Gly20723Val
ENST00000589042.5:c.89363G>T (TTN) MANE Select ENSP00000467141.1:p.Gly29788Val
ENST00000591111.5:c.84440G>T (TTN) ENSP00000465570.1:p.Gly28147Val
ENST00000615779.4:c.84440G>T (TTN) ENSP00000483597.1:p.Gly28147Val
NM_001256850.1:c.84440G>T (TTN) NP_001243779.1:p.Gly28147Val
NM_001267550.2:c.89363G>T (TTN) MANE Select NP_001254479.2:p.Gly29788Val
NM_003319.4:c.62168G>T (TTN) NP_003310.4:p.Gly20723Val
NM_133378.4:c.81659G>T (TTN) NP_596869.4:p.Gly27220Val
NM_133432.3:c.62543G>T (TTN) NP_597676.3:p.Gly20848Val
NM_133437.4:c.62744G>T (TTN) NP_597681.4:p.Gly20915Val
NR_038271.1:n.447-17658C>A (TTN-AS1)
NR_038272.1:n.2043+11281C>A (TTN-AS1)
XM_011511729.1:c.88460G>T (TTN) XP_011510031.1:p.Gly29487Val
XM_011511730.1:c.62354G>T (TTN) XP_011510032.1:p.Gly20785Val
XM_011511731.1:c.62213G>T (TTN) XP_011510033.1:p.Gly20738Val
XM_017004819.1:c.88256G>T (TTN) XP_016860308.1:p.Gly29419Val
XM_017004820.1:c.83654G>T (TTN) XP_016860309.1:p.Gly27885Val
XM_017004821.1:c.83651G>T (TTN) XP_016860310.1:p.Gly27884Val
XM_017004822.1:c.80693G>T (TTN) XP_016860311.1:p.Gly26898Val
XM_017004823.1:c.62309G>T (TTN) XP_016860312.1:p.Gly20770Val
XM_024453094.1:c.83804G>T (TTN) XP_024308862.1:p.Gly27935Val
XM_024453095.1:c.83801G>T (TTN) XP_024308863.1:p.Gly27934Val
XM_024453096.1:c.83234G>T (TTN) XP_024308864.1:p.Gly27745Val
XM_024453097.1:c.80576G>T (TTN) XP_024308865.1:p.Gly26859Val
XM_024453098.1:c.80495G>T (TTN) XP_024308866.1:p.Gly26832Val
XM_024453099.1:c.62258G>T (TTN) XP_024308867.1:p.Gly20753Val
XM_024453100.1:c.52112G>T (TTN) XP_024308868.1:p.Gly17371Val