Canonical Allele Identifier: CA349609994
Community Standard Title: NM_001267550.2(TTN):c.12891C>A (p.Cys4297Ter)
Gene: TTN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178740342G>T , CM000664.2:g.178740342G>T GRCh38
NC_000002.11:g.179605069G>T , CM000664.1:g.179605069G>T GRCh37
NC_000002.10:g.179313314G>T NCBI36
NG_011618.3:g.95461C>A , LRG_391:g.95461C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.12891C>A MANE Select NP_001254479.2:p.Cys4297Ter
ENST00000589042.5:c.12891C>A MANE Select ENSP00000467141.1:p.Cys4297Ter
NM_001256850.1:c.11940C>A NP_001243779.1:p.Cys3980Ter
NM_003319.4:c.11802C>A NP_003310.4:p.Cys3934Ter
NM_133378.4:c.10361-1982C>A NP_596869.4:n.10361-1982C>A
NM_133432.3:c.12177C>A NP_597676.3:p.Cys4059Ter
NM_133437.4:c.12378C>A NP_597681.4:p.Cys4126Ter
ENST00000342175.10:c.12378C>A ENSP00000340554.6:p.Cys4126Ter
ENST00000342175.11:c.12378C>A ENSP00000340554.6:p.Cys4126Ter
ENST00000342992.10:c.10361-1982C>A ENSP00000343764.6:n.10361-1982C>A
ENST00000342992.11:c.10361-1982C>A ENSP00000343764.6:n.10361-1982C>A
ENST00000359218.10:c.12177C>A ENSP00000352154.5:p.Cys4059Ter
ENST00000359218.9:c.12177C>A ENSP00000352154.5:p.Cys4059Ter
ENST00000460472.6:c.11802C>A ENSP00000434586.1:p.Cys3934Ter
ENST00000591111.5:c.11940C>A ENSP00000465570.1:p.Cys3980Ter
ENST00000615779.4:c.11940C>A ENSP00000483597.1:p.Cys3980Ter
XM_011511729.1:c.11988C>A XP_011510031.1:p.Cys3996Ter
XM_011511730.1:c.11988C>A XP_011510032.1:p.Cys3996Ter
XM_011511731.1:c.11847C>A XP_011510033.1:p.Cys3949Ter
XM_017004819.1:c.11943C>A XP_016860308.1:p.Cys3981Ter
XM_017004820.1:c.10364-1982C>A XP_016860309.1:n.10364-1982C>A
XM_017004821.1:c.10361-1982C>A XP_016860310.1:n.10361-1982C>A
XM_017004822.1:c.11943C>A XP_016860311.1:p.Cys3981Ter
XM_017004823.1:c.11943C>A XP_016860312.1:p.Cys3981Ter
XM_024453094.1:c.11943C>A XP_024308862.1:p.Cys3981Ter
XM_024453095.1:c.11943C>A XP_024308863.1:p.Cys3981Ter
XM_024453096.1:c.11943C>A XP_024308864.1:p.Cys3981Ter
XM_024453097.1:c.11943C>A XP_024308865.1:p.Cys3981Ter
XM_024453098.1:c.11943C>A XP_024308866.1:p.Cys3981Ter
XM_024453099.1:c.11943C>A XP_024308867.1:p.Cys3981Ter