Canonical Allele Identifier: CA349616298

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178569880T>A , CM000664.2:g.178569880T>A GRCh38
NC_000002.11:g.179434607T>A , CM000664.1:g.179434607T>A GRCh37
NC_000002.10:g.179142853T>A NCBI36
NG_011618.3:g.265923A>T , LRG_391:g.265923A>T
NG_051363.1:g.52054T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.68548A>T (TTN) ENSP00000343764.6:p.Thr22850Ser
ENST00000342175.11:c.49633A>T (TTN) ENSP00000340554.6:p.Thr16545Ser
ENST00000359218.10:c.49432A>T (TTN) ENSP00000352154.5:p.Thr16478Ser
ENST00000342175.10:c.49633A>T (TTN) ENSP00000340554.6:p.Thr16545Ser
ENST00000342992.10:c.68548A>T (TTN) ENSP00000343764.6:p.Thr22850Ser
ENST00000359218.9:c.49432A>T (TTN) ENSP00000352154.5:p.Thr16478Ser
ENST00000460472.6:c.49057A>T (TTN) ENSP00000434586.1:p.Thr16353Ser
ENST00000589042.5:c.76252A>T (TTN) MANE Select ENSP00000467141.1:p.Thr25418Ser
ENST00000591111.5:c.71329A>T (TTN) ENSP00000465570.1:p.Thr23777Ser
ENST00000615779.4:c.71329A>T (TTN) ENSP00000483597.1:p.Thr23777Ser
NM_001256850.1:c.71329A>T (TTN) NP_001243779.1:p.Thr23777Ser
NM_001267550.2:c.76252A>T (TTN) MANE Select NP_001254479.2:p.Thr25418Ser
NM_003319.4:c.49057A>T (TTN) NP_003310.4:p.Thr16353Ser
NM_133378.4:c.68548A>T (TTN) NP_596869.4:p.Thr22850Ser
NM_133432.3:c.49432A>T (TTN) NP_597676.3:p.Thr16478Ser
NM_133437.4:c.49633A>T (TTN) NP_597681.4:p.Thr16545Ser
NR_038271.1:n.447-1420T>A (TTN-AS1)
NR_038272.1:n.2044-12692T>A (TTN-AS1)
XM_011511729.1:c.75349A>T (TTN) XP_011510031.1:p.Thr25117Ser
XM_011511730.1:c.49243A>T (TTN) XP_011510032.1:p.Thr16415Ser
XM_011511731.1:c.49102A>T (TTN) XP_011510033.1:p.Thr16368Ser
XM_017004819.1:c.75145A>T (TTN) XP_016860308.1:p.Thr25049Ser
XM_017004820.1:c.70543A>T (TTN) XP_016860309.1:p.Thr23515Ser
XM_017004821.1:c.70540A>T (TTN) XP_016860310.1:p.Thr23514Ser
XM_017004822.1:c.67582A>T (TTN) XP_016860311.1:p.Thr22528Ser
XM_017004823.1:c.49198A>T (TTN) XP_016860312.1:p.Thr16400Ser
XM_024453094.1:c.70693A>T (TTN) XP_024308862.1:p.Thr23565Ser
XM_024453095.1:c.70690A>T (TTN) XP_024308863.1:p.Thr23564Ser
XM_024453096.1:c.70123A>T (TTN) XP_024308864.1:p.Thr23375Ser
XM_024453097.1:c.67465A>T (TTN) XP_024308865.1:p.Thr22489Ser
XM_024453098.1:c.67384A>T (TTN) XP_024308866.1:p.Thr22462Ser
XM_024453099.1:c.49147A>T (TTN) XP_024308867.1:p.Thr16383Ser
XM_024453100.1:c.39001A>T (TTN) XP_024308868.1:p.Thr13001Ser