Canonical Allele Identifier: CA16610464
Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 404904
dbSNP Id: rs1060500487

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178621668A>T , CM000664.2:g.178621668A>T GRCh38
NC_000002.11:g.179486395A>T , CM000664.1:g.179486395A>T GRCh37
NC_000002.10:g.179194640A>T NCBI36
NG_011618.3:g.214135T>A , LRG_391:g.214135T>A
NG_051363.1:g.103842A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.37452T>A ENSP00000343764.6:p.Cys12484Ter
ENST00000342175.11:c.18537T>A ENSP00000340554.6:p.Cys6179Ter
ENST00000359218.10:c.18336T>A ENSP00000352154.5:p.Cys6112Ter
ENST00000342175.10:c.18537T>A ENSP00000340554.6:p.Cys6179Ter
ENST00000342992.10:c.37452T>A ENSP00000343764.6:p.Cys12484Ter
ENST00000359218.9:c.18336T>A ENSP00000352154.5:p.Cys6112Ter
ENST00000460472.6:c.17961T>A ENSP00000434586.1:p.Cys5987Ter
ENST00000589042.5:c.45156T>A MANE Select ENSP00000467141.1:p.Cys15052Ter
ENST00000591111.5:c.40233T>A ENSP00000465570.1:p.Cys13411Ter
ENST00000615779.4:c.40233T>A ENSP00000483597.1:p.Cys13411Ter
NM_001256850.1:c.40233T>A NP_001243779.1:p.Cys13411Ter
NM_001267550.2:c.45156T>A MANE Select NP_001254479.2:p.Cys15052Ter
NM_003319.4:c.17961T>A NP_003310.4:p.Cys5987Ter
NM_133378.4:c.37452T>A NP_596869.4:p.Cys12484Ter
NM_133432.3:c.18336T>A NP_597676.3:p.Cys6112Ter
NM_133437.4:c.18537T>A NP_597681.4:p.Cys6179Ter
XM_011511729.1:c.44253T>A XP_011510031.1:p.Cys14751Ter
XM_011511730.1:c.18147T>A XP_011510032.1:p.Cys6049Ter
XM_011511731.1:c.18006T>A XP_011510033.1:p.Cys6002Ter
XM_017004819.1:c.44049T>A XP_016860308.1:p.Cys14683Ter
XM_017004820.1:c.39447T>A XP_016860309.1:p.Cys13149Ter
XM_017004821.1:c.39444T>A XP_016860310.1:p.Cys13148Ter
XM_017004822.1:c.36486T>A XP_016860311.1:p.Cys12162Ter
XM_017004823.1:c.18102T>A XP_016860312.1:p.Cys6034Ter
XM_024453094.1:c.39597T>A XP_024308862.1:p.Cys13199Ter
XM_024453095.1:c.39594T>A XP_024308863.1:p.Cys13198Ter
XM_024453096.1:c.39027T>A XP_024308864.1:p.Cys13009Ter
XM_024453097.1:c.36369T>A XP_024308865.1:p.Cys12123Ter
XM_024453098.1:c.36288T>A XP_024308866.1:p.Cys12096Ter
XM_024453099.1:c.18051T>A XP_024308867.1:p.Cys6017Ter
XM_024453100.1:c.7905T>A XP_024308868.1:p.Cys2635Ter