Canonical Allele Identifier: CA349450927

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178543891T>A , CM000664.2:g.178543891T>A GRCh38
NC_000002.11:g.179408618T>A , CM000664.1:g.179408618T>A GRCh37
NC_000002.10:g.179116864T>A NCBI36
NG_011618.3:g.291912A>T , LRG_391:g.291912A>T
NG_051363.1:g.26065T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88549A>T (TTN) ENSP00000343764.6:p.Ile29517Phe
ENST00000342175.11:c.69634A>T (TTN) ENSP00000340554.6:p.Ile23212Phe
ENST00000359218.10:c.69433A>T (TTN) ENSP00000352154.5:p.Ile23145Phe
ENST00000342175.10:c.69634A>T (TTN) ENSP00000340554.6:p.Ile23212Phe
ENST00000342992.10:c.88549A>T (TTN) ENSP00000343764.6:p.Ile29517Phe
ENST00000359218.9:c.69433A>T (TTN) ENSP00000352154.5:p.Ile23145Phe
ENST00000460472.6:c.69058A>T (TTN) ENSP00000434586.1:p.Ile23020Phe
ENST00000589042.5:c.96253A>T (TTN) MANE Select ENSP00000467141.1:p.Ile32085Phe
ENST00000591111.5:c.91330A>T (TTN) ENSP00000465570.1:p.Ile30444Phe
ENST00000615779.4:c.91330A>T (TTN) ENSP00000483597.1:p.Ile30444Phe
NM_001256850.1:c.91330A>T (TTN) NP_001243779.1:p.Ile30444Phe
NM_001267550.2:c.96253A>T (TTN) MANE Select NP_001254479.2:p.Ile32085Phe
NM_003319.4:c.69058A>T (TTN) NP_003310.4:p.Ile23020Phe
NM_133378.4:c.88549A>T (TTN) NP_596869.4:p.Ile29517Phe
NM_133432.3:c.69433A>T (TTN) NP_597676.3:p.Ile23145Phe
NM_133437.4:c.69634A>T (TTN) NP_597681.4:p.Ile23212Phe
NR_038271.1:n.446+20255T>A (TTN-AS1)
NR_038272.1:n.2043+1530T>A (TTN-AS1)
XM_011511729.1:c.95350A>T (TTN) XP_011510031.1:p.Ile31784Phe
XM_011511730.1:c.69244A>T (TTN) XP_011510032.1:p.Ile23082Phe
XM_011511731.1:c.69103A>T (TTN) XP_011510033.1:p.Ile23035Phe
XM_017004819.1:c.95146A>T (TTN) XP_016860308.1:p.Ile31716Phe
XM_017004820.1:c.90544A>T (TTN) XP_016860309.1:p.Ile30182Phe
XM_017004821.1:c.90541A>T (TTN) XP_016860310.1:p.Ile30181Phe
XM_017004822.1:c.87583A>T (TTN) XP_016860311.1:p.Ile29195Phe
XM_017004823.1:c.69199A>T (TTN) XP_016860312.1:p.Ile23067Phe
XM_024453094.1:c.90694A>T (TTN) XP_024308862.1:p.Ile30232Phe
XM_024453095.1:c.90691A>T (TTN) XP_024308863.1:p.Ile30231Phe
XM_024453096.1:c.90124A>T (TTN) XP_024308864.1:p.Ile30042Phe
XM_024453097.1:c.87466A>T (TTN) XP_024308865.1:p.Ile29156Phe
XM_024453098.1:c.87385A>T (TTN) XP_024308866.1:p.Ile29129Phe
XM_024453099.1:c.69148A>T (TTN) XP_024308867.1:p.Ile23050Phe
XM_024453100.1:c.59002A>T (TTN) XP_024308868.1:p.Ile19668Phe