Canonical Allele Identifier: CA1995930
Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 497009
dbSNP Id: rs765214404

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178632970C>T , CM000664.2:g.178632970C>T GRCh38
NC_000002.11:g.179497697C>T , CM000664.1:g.179497697C>T GRCh37
NC_000002.10:g.179205942C>T NCBI36
NG_011618.3:g.202833G>A , LRG_391:g.202833G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.35457G>A ENSP00000343764.6:p.Glu11819=
ENST00000342175.11:c.16542G>A ENSP00000340554.6:p.Glu5514=
ENST00000359218.10:c.16341G>A ENSP00000352154.5:p.Glu5447=
ENST00000342175.10:c.16542G>A ENSP00000340554.6:p.Glu5514=
ENST00000342992.10:c.35457G>A ENSP00000343764.6:p.Glu11819=
ENST00000359218.9:c.16341G>A ENSP00000352154.5:p.Glu5447=
ENST00000460472.6:c.15966G>A ENSP00000434586.1:p.Glu5322=
ENST00000589042.5:c.43161G>A MANE Select ENSP00000467141.1:p.Glu14387=
ENST00000591111.5:c.38238G>A ENSP00000465570.1:p.Glu12746=
ENST00000615779.4:c.38238G>A ENSP00000483597.1:p.Glu12746=
NM_001256850.1:c.38238G>A NP_001243779.1:p.Glu12746=
NM_001267550.2:c.43161G>A MANE Select NP_001254479.2:p.Glu14387=
NM_003319.4:c.15966G>A NP_003310.4:p.Glu5322=
NM_133378.4:c.35457G>A NP_596869.4:p.Glu11819=
NM_133432.3:c.16341G>A NP_597676.3:p.Glu5447=
NM_133437.4:c.16542G>A NP_597681.4:p.Glu5514=
XM_011511729.1:c.42258G>A XP_011510031.1:p.Glu14086=
XM_011511730.1:c.16152G>A XP_011510032.1:p.Glu5384=
XM_011511731.1:c.16011G>A XP_011510033.1:p.Glu5337=
XM_017004819.1:c.42054G>A XP_016860308.1:p.Glu14018=
XM_017004820.1:c.37452G>A XP_016860309.1:p.Glu12484=
XM_017004821.1:c.37449G>A XP_016860310.1:p.Glu12483=
XM_017004822.1:c.34491G>A XP_016860311.1:p.Glu11497=
XM_017004823.1:c.16107G>A XP_016860312.1:p.Glu5369=
XM_024453094.1:c.37602G>A XP_024308862.1:p.Glu12534=
XM_024453095.1:c.37599G>A XP_024308863.1:p.Glu12533=
XM_024453096.1:c.37032G>A XP_024308864.1:p.Glu12344=
XM_024453097.1:c.34374G>A XP_024308865.1:p.Glu11458=
XM_024453098.1:c.34293G>A XP_024308866.1:p.Glu11431=
XM_024453099.1:c.16056G>A XP_024308867.1:p.Glu5352=
XM_024453100.1:c.5910G>A XP_024308868.1:p.Glu1970=