Canonical Allele Identifier: CA1989078
Community Standard Title: NM_001267550.2(TTN):c.82401T>C (p.Tyr27467=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178563731A>G , CM000664.2:g.178563731A>G GRCh38
NC_000002.11:g.179428458A>G , CM000664.1:g.179428458A>G GRCh37
NC_000002.10:g.179136704A>G NCBI36
NG_011618.3:g.272072T>C , LRG_391:g.272072T>C
NG_051363.1:g.45905A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.82401T>C (TTN) MANE Select NP_001254479.2:p.Tyr27467=
ENST00000589042.5:c.82401T>C (TTN) MANE Select ENSP00000467141.1:p.Tyr27467=
NM_001256850.1:c.77478T>C (TTN) NP_001243779.1:p.Tyr25826=
NM_003319.4:c.55206T>C (TTN) NP_003310.4:p.Tyr18402=
NM_133378.4:c.74697T>C (TTN) NP_596869.4:p.Tyr24899=
NM_133432.3:c.55581T>C (TTN) NP_597676.3:p.Tyr18527=
NM_133437.4:c.55782T>C (TTN) NP_597681.4:p.Tyr18594=
NR_038271.1:n.447-7569A>G (TTN-AS1)
NR_038272.1:n.2044-18841A>G (TTN-AS1)
ENST00000342175.10:c.55782T>C (TTN) ENSP00000340554.6:p.Tyr18594=
ENST00000342175.11:c.55782T>C (TTN) ENSP00000340554.6:p.Tyr18594=
ENST00000342992.10:c.74697T>C (TTN) ENSP00000343764.6:p.Tyr24899=
ENST00000342992.11:c.74697T>C (TTN) ENSP00000343764.6:p.Tyr24899=
ENST00000359218.10:c.55581T>C (TTN) ENSP00000352154.5:p.Tyr18527=
ENST00000359218.9:c.55581T>C (TTN) ENSP00000352154.5:p.Tyr18527=
ENST00000460472.6:c.55206T>C (TTN) ENSP00000434586.1:p.Tyr18402=
ENST00000591111.5:c.77478T>C (TTN) ENSP00000465570.1:p.Tyr25826=
ENST00000615779.4:c.77478T>C (TTN) ENSP00000483597.1:p.Tyr25826=
XM_011511729.1:c.81498T>C (TTN) XP_011510031.1:p.Tyr27166=
XM_011511730.1:c.55392T>C (TTN) XP_011510032.1:p.Tyr18464=
XM_011511731.1:c.55251T>C (TTN) XP_011510033.1:p.Tyr18417=
XM_017004819.1:c.81294T>C (TTN) XP_016860308.1:p.Tyr27098=
XM_017004820.1:c.76692T>C (TTN) XP_016860309.1:p.Tyr25564=
XM_017004821.1:c.76689T>C (TTN) XP_016860310.1:p.Tyr25563=
XM_017004822.1:c.73731T>C (TTN) XP_016860311.1:p.Tyr24577=
XM_017004823.1:c.55347T>C (TTN) XP_016860312.1:p.Tyr18449=
XM_024453094.1:c.76842T>C (TTN) XP_024308862.1:p.Tyr25614=
XM_024453095.1:c.76839T>C (TTN) XP_024308863.1:p.Tyr25613=
XM_024453096.1:c.76272T>C (TTN) XP_024308864.1:p.Tyr25424=
XM_024453097.1:c.73614T>C (TTN) XP_024308865.1:p.Tyr24538=
XM_024453098.1:c.73533T>C (TTN) XP_024308866.1:p.Tyr24511=
XM_024453099.1:c.55296T>C (TTN) XP_024308867.1:p.Tyr18432=
XM_024453100.1:c.45150T>C (TTN) XP_024308868.1:p.Tyr15050=