Canonical Allele Identifier: CA1995425
Gene: TTN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178621213C>T , CM000664.2:g.178621213C>T GRCh38
NC_000002.11:g.179485940C>T , CM000664.1:g.179485940C>T GRCh37
NC_000002.10:g.179194185C>T NCBI36
NG_011618.3:g.214590G>A , LRG_391:g.214590G>A
NG_051363.1:g.103387C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.37801G>A ENSP00000343764.6:p.Ala12601Thr
ENST00000342175.11:c.18886G>A ENSP00000340554.6:p.Ala6296Thr
ENST00000359218.10:c.18685G>A ENSP00000352154.5:p.Ala6229Thr
ENST00000342175.10:c.18886G>A ENSP00000340554.6:p.Ala6296Thr
ENST00000342992.10:c.37801G>A ENSP00000343764.6:p.Ala12601Thr
ENST00000359218.9:c.18685G>A ENSP00000352154.5:p.Ala6229Thr
ENST00000460472.6:c.18310G>A ENSP00000434586.1:p.Ala6104Thr
ENST00000589042.5:c.45505G>A MANE Select ENSP00000467141.1:p.Ala15169Thr
ENST00000591111.5:c.40582G>A ENSP00000465570.1:p.Ala13528Thr
ENST00000615779.4:c.40582G>A ENSP00000483597.1:p.Ala13528Thr
NM_001256850.1:c.40582G>A NP_001243779.1:p.Ala13528Thr
NM_001267550.2:c.45505G>A MANE Select NP_001254479.2:p.Ala15169Thr
NM_003319.4:c.18310G>A NP_003310.4:p.Ala6104Thr
NM_133378.4:c.37801G>A NP_596869.4:p.Ala12601Thr
NM_133432.3:c.18685G>A NP_597676.3:p.Ala6229Thr
NM_133437.4:c.18886G>A NP_597681.4:p.Ala6296Thr
XM_011511729.1:c.44602G>A XP_011510031.1:p.Ala14868Thr
XM_011511730.1:c.18496G>A XP_011510032.1:p.Ala6166Thr
XM_011511731.1:c.18355G>A XP_011510033.1:p.Ala6119Thr
XM_017004819.1:c.44398G>A XP_016860308.1:p.Ala14800Thr
XM_017004820.1:c.39796G>A XP_016860309.1:p.Ala13266Thr
XM_017004821.1:c.39793G>A XP_016860310.1:p.Ala13265Thr
XM_017004822.1:c.36835G>A XP_016860311.1:p.Ala12279Thr
XM_017004823.1:c.18451G>A XP_016860312.1:p.Ala6151Thr
XM_024453094.1:c.39946G>A XP_024308862.1:p.Ala13316Thr
XM_024453095.1:c.39943G>A XP_024308863.1:p.Ala13315Thr
XM_024453096.1:c.39376G>A XP_024308864.1:p.Ala13126Thr
XM_024453097.1:c.36718G>A XP_024308865.1:p.Ala12240Thr
XM_024453098.1:c.36637G>A XP_024308866.1:p.Ala12213Thr
XM_024453099.1:c.18400G>A XP_024308867.1:p.Ala6134Thr
XM_024453100.1:c.8254G>A XP_024308868.1:p.Ala2752Thr