Canonical Allele Identifier: CA349636130
Gene: TTN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178621741T>G , CM000664.2:g.178621741T>G GRCh38
NC_000002.11:g.179486468T>G , CM000664.1:g.179486468T>G GRCh37
NC_000002.10:g.179194713T>G NCBI36
NG_011618.3:g.214062A>C , LRG_391:g.214062A>C
NG_051363.1:g.103915T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.37379A>C ENSP00000343764.6:p.Glu12460Ala
ENST00000342175.11:c.18464A>C ENSP00000340554.6:p.Glu6155Ala
ENST00000359218.10:c.18263A>C ENSP00000352154.5:p.Glu6088Ala
ENST00000342175.10:c.18464A>C ENSP00000340554.6:p.Glu6155Ala
ENST00000342992.10:c.37379A>C ENSP00000343764.6:p.Glu12460Ala
ENST00000359218.9:c.18263A>C ENSP00000352154.5:p.Glu6088Ala
ENST00000460472.6:c.17888A>C ENSP00000434586.1:p.Glu5963Ala
ENST00000589042.5:c.45083A>C MANE Select ENSP00000467141.1:p.Glu15028Ala
ENST00000591111.5:c.40160A>C ENSP00000465570.1:p.Glu13387Ala
ENST00000615779.4:c.40160A>C ENSP00000483597.1:p.Glu13387Ala
NM_001256850.1:c.40160A>C NP_001243779.1:p.Glu13387Ala
NM_001267550.2:c.45083A>C MANE Select NP_001254479.2:p.Glu15028Ala
NM_003319.4:c.17888A>C NP_003310.4:p.Glu5963Ala
NM_133378.4:c.37379A>C NP_596869.4:p.Glu12460Ala
NM_133432.3:c.18263A>C NP_597676.3:p.Glu6088Ala
NM_133437.4:c.18464A>C NP_597681.4:p.Glu6155Ala
XM_011511729.1:c.44180A>C XP_011510031.1:p.Glu14727Ala
XM_011511730.1:c.18074A>C XP_011510032.1:p.Glu6025Ala
XM_011511731.1:c.17933A>C XP_011510033.1:p.Glu5978Ala
XM_017004819.1:c.43976A>C XP_016860308.1:p.Glu14659Ala
XM_017004820.1:c.39374A>C XP_016860309.1:p.Glu13125Ala
XM_017004821.1:c.39371A>C XP_016860310.1:p.Glu13124Ala
XM_017004822.1:c.36413A>C XP_016860311.1:p.Glu12138Ala
XM_017004823.1:c.18029A>C XP_016860312.1:p.Glu6010Ala
XM_024453094.1:c.39524A>C XP_024308862.1:p.Glu13175Ala
XM_024453095.1:c.39521A>C XP_024308863.1:p.Glu13174Ala
XM_024453096.1:c.38954A>C XP_024308864.1:p.Glu12985Ala
XM_024453097.1:c.36296A>C XP_024308865.1:p.Glu12099Ala
XM_024453098.1:c.36215A>C XP_024308866.1:p.Glu12072Ala
XM_024453099.1:c.17978A>C XP_024308867.1:p.Glu5993Ala
XM_024453100.1:c.7832A>C XP_024308868.1:p.Glu2611Ala