Canonical Allele Identifier: CA349470722

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178546684A>T , CM000664.2:g.178546684A>T GRCh38
NC_000002.11:g.179411411A>T , CM000664.1:g.179411411A>T GRCh37
NC_000002.10:g.179119657A>T NCBI36
NG_011618.3:g.289119T>A , LRG_391:g.289119T>A
NG_051363.1:g.28858A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.87040T>A (TTN) ENSP00000343764.6:p.Phe29014Ile
ENST00000342175.11:c.68125T>A (TTN) ENSP00000340554.6:p.Phe22709Ile
ENST00000359218.10:c.67924T>A (TTN) ENSP00000352154.5:p.Phe22642Ile
ENST00000342175.10:c.68125T>A (TTN) ENSP00000340554.6:p.Phe22709Ile
ENST00000342992.10:c.87040T>A (TTN) ENSP00000343764.6:p.Phe29014Ile
ENST00000359218.9:c.67924T>A (TTN) ENSP00000352154.5:p.Phe22642Ile
ENST00000460472.6:c.67549T>A (TTN) ENSP00000434586.1:p.Phe22517Ile
ENST00000589042.5:c.94744T>A (TTN) MANE Select ENSP00000467141.1:p.Phe31582Ile
ENST00000591111.5:c.89821T>A (TTN) ENSP00000465570.1:p.Phe29941Ile
ENST00000615779.4:c.89821T>A (TTN) ENSP00000483597.1:p.Phe29941Ile
NM_001256850.1:c.89821T>A (TTN) NP_001243779.1:p.Phe29941Ile
NM_001267550.2:c.94744T>A (TTN) MANE Select NP_001254479.2:p.Phe31582Ile
NM_003319.4:c.67549T>A (TTN) NP_003310.4:p.Phe22517Ile
NM_133378.4:c.87040T>A (TTN) NP_596869.4:p.Phe29014Ile
NM_133432.3:c.67924T>A (TTN) NP_597676.3:p.Phe22642Ile
NM_133437.4:c.68125T>A (TTN) NP_597681.4:p.Phe22709Ile
NR_038271.1:n.446+23048A>T (TTN-AS1)
NR_038272.1:n.2043+4323A>T (TTN-AS1)
XM_011511729.1:c.93841T>A (TTN) XP_011510031.1:p.Phe31281Ile
XM_011511730.1:c.67735T>A (TTN) XP_011510032.1:p.Phe22579Ile
XM_011511731.1:c.67594T>A (TTN) XP_011510033.1:p.Phe22532Ile
XM_017004819.1:c.93637T>A (TTN) XP_016860308.1:p.Phe31213Ile
XM_017004820.1:c.89035T>A (TTN) XP_016860309.1:p.Phe29679Ile
XM_017004821.1:c.89032T>A (TTN) XP_016860310.1:p.Phe29678Ile
XM_017004822.1:c.86074T>A (TTN) XP_016860311.1:p.Phe28692Ile
XM_017004823.1:c.67690T>A (TTN) XP_016860312.1:p.Phe22564Ile
XM_024453094.1:c.89185T>A (TTN) XP_024308862.1:p.Phe29729Ile
XM_024453095.1:c.89182T>A (TTN) XP_024308863.1:p.Phe29728Ile
XM_024453096.1:c.88615T>A (TTN) XP_024308864.1:p.Phe29539Ile
XM_024453097.1:c.85957T>A (TTN) XP_024308865.1:p.Phe28653Ile
XM_024453098.1:c.85876T>A (TTN) XP_024308866.1:p.Phe28626Ile
XM_024453099.1:c.67639T>A (TTN) XP_024308867.1:p.Phe22547Ile
XM_024453100.1:c.57493T>A (TTN) XP_024308868.1:p.Phe19165Ile