Canonical Allele Identifier: CA349601305

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178567386G>T , CM000664.2:g.178567386G>T GRCh38
NC_000002.11:g.179432113G>T , CM000664.1:g.179432113G>T GRCh37
NC_000002.10:g.179140359G>T NCBI36
NG_011618.3:g.268417C>A , LRG_391:g.268417C>A
NG_051363.1:g.49560G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.71042C>A (TTN) ENSP00000343764.6:p.Ala23681Asp
ENST00000342175.11:c.52127C>A (TTN) ENSP00000340554.6:p.Ala17376Asp
ENST00000359218.10:c.51926C>A (TTN) ENSP00000352154.5:p.Ala17309Asp
ENST00000342175.10:c.52127C>A (TTN) ENSP00000340554.6:p.Ala17376Asp
ENST00000342992.10:c.71042C>A (TTN) ENSP00000343764.6:p.Ala23681Asp
ENST00000359218.9:c.51926C>A (TTN) ENSP00000352154.5:p.Ala17309Asp
ENST00000460472.6:c.51551C>A (TTN) ENSP00000434586.1:p.Ala17184Asp
ENST00000589042.5:c.78746C>A (TTN) MANE Select ENSP00000467141.1:p.Ala26249Asp
ENST00000591111.5:c.73823C>A (TTN) ENSP00000465570.1:p.Ala24608Asp
ENST00000615779.4:c.73823C>A (TTN) ENSP00000483597.1:p.Ala24608Asp
NM_001256850.1:c.73823C>A (TTN) NP_001243779.1:p.Ala24608Asp
NM_001267550.2:c.78746C>A (TTN) MANE Select NP_001254479.2:p.Ala26249Asp
NM_003319.4:c.51551C>A (TTN) NP_003310.4:p.Ala17184Asp
NM_133378.4:c.71042C>A (TTN) NP_596869.4:p.Ala23681Asp
NM_133432.3:c.51926C>A (TTN) NP_597676.3:p.Ala17309Asp
NM_133437.4:c.52127C>A (TTN) NP_597681.4:p.Ala17376Asp
NR_038271.1:n.447-3914G>T (TTN-AS1)
NR_038272.1:n.2044-15186G>T (TTN-AS1)
XM_011511729.1:c.77843C>A (TTN) XP_011510031.1:p.Ala25948Asp
XM_011511730.1:c.51737C>A (TTN) XP_011510032.1:p.Ala17246Asp
XM_011511731.1:c.51596C>A (TTN) XP_011510033.1:p.Ala17199Asp
XM_017004819.1:c.77639C>A (TTN) XP_016860308.1:p.Ala25880Asp
XM_017004820.1:c.73037C>A (TTN) XP_016860309.1:p.Ala24346Asp
XM_017004821.1:c.73034C>A (TTN) XP_016860310.1:p.Ala24345Asp
XM_017004822.1:c.70076C>A (TTN) XP_016860311.1:p.Ala23359Asp
XM_017004823.1:c.51692C>A (TTN) XP_016860312.1:p.Ala17231Asp
XM_024453094.1:c.73187C>A (TTN) XP_024308862.1:p.Ala24396Asp
XM_024453095.1:c.73184C>A (TTN) XP_024308863.1:p.Ala24395Asp
XM_024453096.1:c.72617C>A (TTN) XP_024308864.1:p.Ala24206Asp
XM_024453097.1:c.69959C>A (TTN) XP_024308865.1:p.Ala23320Asp
XM_024453098.1:c.69878C>A (TTN) XP_024308866.1:p.Ala23293Asp
XM_024453099.1:c.51641C>A (TTN) XP_024308867.1:p.Ala17214Asp
XM_024453100.1:c.41495C>A (TTN) XP_024308868.1:p.Ala13832Asp