Canonical Allele Identifier: CA349435461

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178584480T>A , CM000664.2:g.178584480T>A GRCh38
NC_000002.11:g.179449207T>A , CM000664.1:g.179449207T>A GRCh37
NC_000002.10:g.179157453T>A NCBI36
NG_011618.3:g.251323A>T , LRG_391:g.251323A>T
NG_051363.1:g.66654T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.57367A>T (TTN) ENSP00000343764.6:p.Ile19123Phe
ENST00000342175.11:c.38452A>T (TTN) ENSP00000340554.6:p.Ile12818Phe
ENST00000359218.10:c.38251A>T (TTN) ENSP00000352154.5:p.Ile12751Phe
ENST00000342175.10:c.38452A>T (TTN) ENSP00000340554.6:p.Ile12818Phe
ENST00000342992.10:c.57367A>T (TTN) ENSP00000343764.6:p.Ile19123Phe
ENST00000359218.9:c.38251A>T (TTN) ENSP00000352154.5:p.Ile12751Phe
ENST00000460472.6:c.37876A>T (TTN) ENSP00000434586.1:p.Ile12626Phe
ENST00000589042.5:c.65071A>T (TTN) MANE Select ENSP00000467141.1:p.Ile21691Phe
ENST00000591111.5:c.60148A>T (TTN) ENSP00000465570.1:p.Ile20050Phe
ENST00000615779.4:c.60148A>T (TTN) ENSP00000483597.1:p.Ile20050Phe
NM_001256850.1:c.60148A>T (TTN) NP_001243779.1:p.Ile20050Phe
NM_001267550.2:c.65071A>T (TTN) MANE Select NP_001254479.2:p.Ile21691Phe
NM_003319.4:c.37876A>T (TTN) NP_003310.4:p.Ile12626Phe
NM_133378.4:c.57367A>T (TTN) NP_596869.4:p.Ile19123Phe
NM_133432.3:c.38251A>T (TTN) NP_597676.3:p.Ile12751Phe
NM_133437.4:c.38452A>T (TTN) NP_597681.4:p.Ile12818Phe
NR_038271.1:n.596+13031T>A (TTN-AS1)
NR_038272.1:n.2768-93T>A (TTN-AS1)
XM_011511729.1:c.64168A>T (TTN) XP_011510031.1:p.Ile21390Phe
XM_011511730.1:c.38062A>T (TTN) XP_011510032.1:p.Ile12688Phe
XM_011511731.1:c.37921A>T (TTN) XP_011510033.1:p.Ile12641Phe
XM_017004819.1:c.63964A>T (TTN) XP_016860308.1:p.Ile21322Phe
XM_017004820.1:c.59362A>T (TTN) XP_016860309.1:p.Ile19788Phe
XM_017004821.1:c.59359A>T (TTN) XP_016860310.1:p.Ile19787Phe
XM_017004822.1:c.56401A>T (TTN) XP_016860311.1:p.Ile18801Phe
XM_017004823.1:c.38017A>T (TTN) XP_016860312.1:p.Ile12673Phe
XM_024453094.1:c.59512A>T (TTN) XP_024308862.1:p.Ile19838Phe
XM_024453095.1:c.59509A>T (TTN) XP_024308863.1:p.Ile19837Phe
XM_024453096.1:c.58942A>T (TTN) XP_024308864.1:p.Ile19648Phe
XM_024453097.1:c.56284A>T (TTN) XP_024308865.1:p.Ile18762Phe
XM_024453098.1:c.56203A>T (TTN) XP_024308866.1:p.Ile18735Phe
XM_024453099.1:c.37966A>T (TTN) XP_024308867.1:p.Ile12656Phe
XM_024453100.1:c.27820A>T (TTN) XP_024308868.1:p.Ile9274Phe