Canonical Allele Identifier: CA1988641
Community Standard Title: NM_001267550.2(TTN):c.85449C>T (p.Ile28483=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178560683G>A , CM000664.2:g.178560683G>A GRCh38
NC_000002.11:g.179425410G>A , CM000664.1:g.179425410G>A GRCh37
NC_000002.10:g.179133656G>A NCBI36
NG_011618.3:g.275120C>T , LRG_391:g.275120C>T
NG_051363.1:g.42857G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.85449C>T (TTN) MANE Select NP_001254479.2:p.Ile28483=
ENST00000589042.5:c.85449C>T (TTN) MANE Select ENSP00000467141.1:p.Ile28483=
NM_001256850.1:c.80526C>T (TTN) NP_001243779.1:p.Ile26842=
NM_003319.4:c.58254C>T (TTN) NP_003310.4:p.Ile19418=
NM_133378.4:c.77745C>T (TTN) NP_596869.4:p.Ile25915=
NM_133432.3:c.58629C>T (TTN) NP_597676.3:p.Ile19543=
NM_133437.4:c.58830C>T (TTN) NP_597681.4:p.Ile19610=
NR_038271.1:n.447-10617G>A (TTN-AS1)
NR_038272.1:n.2043+18322G>A (TTN-AS1)
ENST00000342175.10:c.58830C>T (TTN) ENSP00000340554.6:p.Ile19610=
ENST00000342175.11:c.58830C>T (TTN) ENSP00000340554.6:p.Ile19610=
ENST00000342992.10:c.77745C>T (TTN) ENSP00000343764.6:p.Ile25915=
ENST00000342992.11:c.77745C>T (TTN) ENSP00000343764.6:p.Ile25915=
ENST00000359218.10:c.58629C>T (TTN) ENSP00000352154.5:p.Ile19543=
ENST00000359218.9:c.58629C>T (TTN) ENSP00000352154.5:p.Ile19543=
ENST00000460472.6:c.58254C>T (TTN) ENSP00000434586.1:p.Ile19418=
ENST00000591111.5:c.80526C>T (TTN) ENSP00000465570.1:p.Ile26842=
ENST00000615779.4:c.80526C>T (TTN) ENSP00000483597.1:p.Ile26842=
XM_011511729.1:c.84546C>T (TTN) XP_011510031.1:p.Ile28182=
XM_011511730.1:c.58440C>T (TTN) XP_011510032.1:p.Ile19480=
XM_011511731.1:c.58299C>T (TTN) XP_011510033.1:p.Ile19433=
XM_017004819.1:c.84342C>T (TTN) XP_016860308.1:p.Ile28114=
XM_017004820.1:c.79740C>T (TTN) XP_016860309.1:p.Ile26580=
XM_017004821.1:c.79737C>T (TTN) XP_016860310.1:p.Ile26579=
XM_017004822.1:c.76779C>T (TTN) XP_016860311.1:p.Ile25593=
XM_017004823.1:c.58395C>T (TTN) XP_016860312.1:p.Ile19465=
XM_024453094.1:c.79890C>T (TTN) XP_024308862.1:p.Ile26630=
XM_024453095.1:c.79887C>T (TTN) XP_024308863.1:p.Ile26629=
XM_024453096.1:c.79320C>T (TTN) XP_024308864.1:p.Ile26440=
XM_024453097.1:c.76662C>T (TTN) XP_024308865.1:p.Ile25554=
XM_024453098.1:c.76581C>T (TTN) XP_024308866.1:p.Ile25527=
XM_024453099.1:c.58344C>T (TTN) XP_024308867.1:p.Ile19448=
XM_024453100.1:c.48198C>T (TTN) XP_024308868.1:p.Ile16066=