Canonical Allele Identifier: CA349621874

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178570558C>G , CM000664.2:g.178570558C>G GRCh38
NC_000002.11:g.179435285C>G , CM000664.1:g.179435285C>G GRCh37
NC_000002.10:g.179143531C>G NCBI36
NG_011618.3:g.265245G>C , LRG_391:g.265245G>C
NG_051363.1:g.52732C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.67870G>C (TTN) ENSP00000343764.6:p.Glu22624Gln
ENST00000342175.11:c.48955G>C (TTN) ENSP00000340554.6:p.Glu16319Gln
ENST00000359218.10:c.48754G>C (TTN) ENSP00000352154.5:p.Glu16252Gln
ENST00000342175.10:c.48955G>C (TTN) ENSP00000340554.6:p.Glu16319Gln
ENST00000342992.10:c.67870G>C (TTN) ENSP00000343764.6:p.Glu22624Gln
ENST00000359218.9:c.48754G>C (TTN) ENSP00000352154.5:p.Glu16252Gln
ENST00000460472.6:c.48379G>C (TTN) ENSP00000434586.1:p.Glu16127Gln
ENST00000589042.5:c.75574G>C (TTN) MANE Select ENSP00000467141.1:p.Glu25192Gln
ENST00000591111.5:c.70651G>C (TTN) ENSP00000465570.1:p.Glu23551Gln
ENST00000615779.4:c.70651G>C (TTN) ENSP00000483597.1:p.Glu23551Gln
NM_001256850.1:c.70651G>C (TTN) NP_001243779.1:p.Glu23551Gln
NM_001267550.2:c.75574G>C (TTN) MANE Select NP_001254479.2:p.Glu25192Gln
NM_003319.4:c.48379G>C (TTN) NP_003310.4:p.Glu16127Gln
NM_133378.4:c.67870G>C (TTN) NP_596869.4:p.Glu22624Gln
NM_133432.3:c.48754G>C (TTN) NP_597676.3:p.Glu16252Gln
NM_133437.4:c.48955G>C (TTN) NP_597681.4:p.Glu16319Gln
NR_038271.1:n.447-742C>G (TTN-AS1)
NR_038272.1:n.2044-12014C>G (TTN-AS1)
XM_011511729.1:c.74671G>C (TTN) XP_011510031.1:p.Glu24891Gln
XM_011511730.1:c.48565G>C (TTN) XP_011510032.1:p.Glu16189Gln
XM_011511731.1:c.48424G>C (TTN) XP_011510033.1:p.Glu16142Gln
XM_017004819.1:c.74467G>C (TTN) XP_016860308.1:p.Glu24823Gln
XM_017004820.1:c.69865G>C (TTN) XP_016860309.1:p.Glu23289Gln
XM_017004821.1:c.69862G>C (TTN) XP_016860310.1:p.Glu23288Gln
XM_017004822.1:c.66904G>C (TTN) XP_016860311.1:p.Glu22302Gln
XM_017004823.1:c.48520G>C (TTN) XP_016860312.1:p.Glu16174Gln
XM_024453094.1:c.70015G>C (TTN) XP_024308862.1:p.Glu23339Gln
XM_024453095.1:c.70012G>C (TTN) XP_024308863.1:p.Glu23338Gln
XM_024453096.1:c.69445G>C (TTN) XP_024308864.1:p.Glu23149Gln
XM_024453097.1:c.66787G>C (TTN) XP_024308865.1:p.Glu22263Gln
XM_024453098.1:c.66706G>C (TTN) XP_024308866.1:p.Glu22236Gln
XM_024453099.1:c.48469G>C (TTN) XP_024308867.1:p.Glu16157Gln
XM_024453100.1:c.38323G>C (TTN) XP_024308868.1:p.Glu12775Gln