Canonical Allele Identifier: CA349499748

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178593176T>A , CM000664.2:g.178593176T>A GRCh38
NC_000002.11:g.179457903T>A , CM000664.1:g.179457903T>A GRCh37
NC_000002.10:g.179166149T>A NCBI36
NG_011618.3:g.242627A>T , LRG_391:g.242627A>T
NG_051363.1:g.75350T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.51328A>T (TTN) ENSP00000343764.6:p.Ile17110Phe
ENST00000342175.11:c.32413A>T (TTN) ENSP00000340554.6:p.Ile10805Phe
ENST00000359218.10:c.32212A>T (TTN) ENSP00000352154.5:p.Ile10738Phe
ENST00000342175.10:c.32413A>T (TTN) ENSP00000340554.6:p.Ile10805Phe
ENST00000342992.10:c.51328A>T (TTN) ENSP00000343764.6:p.Ile17110Phe
ENST00000359218.9:c.32212A>T (TTN) ENSP00000352154.5:p.Ile10738Phe
ENST00000460472.6:c.31837A>T (TTN) ENSP00000434586.1:p.Ile10613Phe
ENST00000589042.5:c.59032A>T (TTN) MANE Select ENSP00000467141.1:p.Ile19678Phe
ENST00000591111.5:c.54109A>T (TTN) ENSP00000465570.1:p.Ile18037Phe
ENST00000615779.4:c.54109A>T (TTN) ENSP00000483597.1:p.Ile18037Phe
NM_001256850.1:c.54109A>T (TTN) NP_001243779.1:p.Ile18037Phe
NM_001267550.2:c.59032A>T (TTN) MANE Select NP_001254479.2:p.Ile19678Phe
NM_003319.4:c.31837A>T (TTN) NP_003310.4:p.Ile10613Phe
NM_133378.4:c.51328A>T (TTN) NP_596869.4:p.Ile17110Phe
NM_133432.3:c.32212A>T (TTN) NP_597676.3:p.Ile10738Phe
NM_133437.4:c.32413A>T (TTN) NP_597681.4:p.Ile10805Phe
NR_038271.1:n.597-4420T>A (TTN-AS1)
NR_038272.1:n.3364+1862T>A (TTN-AS1)
XM_011511729.1:c.58129A>T (TTN) XP_011510031.1:p.Ile19377Phe
XM_011511730.1:c.32023A>T (TTN) XP_011510032.1:p.Ile10675Phe
XM_011511731.1:c.31882A>T (TTN) XP_011510033.1:p.Ile10628Phe
XM_017004819.1:c.57925A>T (TTN) XP_016860308.1:p.Ile19309Phe
XM_017004820.1:c.53323A>T (TTN) XP_016860309.1:p.Ile17775Phe
XM_017004821.1:c.53320A>T (TTN) XP_016860310.1:p.Ile17774Phe
XM_017004822.1:c.50362A>T (TTN) XP_016860311.1:p.Ile16788Phe
XM_017004823.1:c.31978A>T (TTN) XP_016860312.1:p.Ile10660Phe
XM_024453094.1:c.53473A>T (TTN) XP_024308862.1:p.Ile17825Phe
XM_024453095.1:c.53470A>T (TTN) XP_024308863.1:p.Ile17824Phe
XM_024453096.1:c.52903A>T (TTN) XP_024308864.1:p.Ile17635Phe
XM_024453097.1:c.50245A>T (TTN) XP_024308865.1:p.Ile16749Phe
XM_024453098.1:c.50164A>T (TTN) XP_024308866.1:p.Ile16722Phe
XM_024453099.1:c.31927A>T (TTN) XP_024308867.1:p.Ile10643Phe
XM_024453100.1:c.21781A>T (TTN) XP_024308868.1:p.Ile7261Phe