Canonical Allele Identifier: CA349470088

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178546614C>A , CM000664.2:g.178546614C>A GRCh38
NC_000002.11:g.179411341C>A , CM000664.1:g.179411341C>A GRCh37
NC_000002.10:g.179119587C>A NCBI36
NG_011618.3:g.289189G>T , LRG_391:g.289189G>T
NG_051363.1:g.28788C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.87110G>T (TTN) ENSP00000343764.6:p.Cys29037Phe
ENST00000342175.11:c.68195G>T (TTN) ENSP00000340554.6:p.Cys22732Phe
ENST00000359218.10:c.67994G>T (TTN) ENSP00000352154.5:p.Cys22665Phe
ENST00000342175.10:c.68195G>T (TTN) ENSP00000340554.6:p.Cys22732Phe
ENST00000342992.10:c.87110G>T (TTN) ENSP00000343764.6:p.Cys29037Phe
ENST00000359218.9:c.67994G>T (TTN) ENSP00000352154.5:p.Cys22665Phe
ENST00000460472.6:c.67619G>T (TTN) ENSP00000434586.1:p.Cys22540Phe
ENST00000589042.5:c.94814G>T (TTN) MANE Select ENSP00000467141.1:p.Cys31605Phe
ENST00000591111.5:c.89891G>T (TTN) ENSP00000465570.1:p.Cys29964Phe
ENST00000615779.4:c.89891G>T (TTN) ENSP00000483597.1:p.Cys29964Phe
NM_001256850.1:c.89891G>T (TTN) NP_001243779.1:p.Cys29964Phe
NM_001267550.2:c.94814G>T (TTN) MANE Select NP_001254479.2:p.Cys31605Phe
NM_003319.4:c.67619G>T (TTN) NP_003310.4:p.Cys22540Phe
NM_133378.4:c.87110G>T (TTN) NP_596869.4:p.Cys29037Phe
NM_133432.3:c.67994G>T (TTN) NP_597676.3:p.Cys22665Phe
NM_133437.4:c.68195G>T (TTN) NP_597681.4:p.Cys22732Phe
NR_038271.1:n.446+22978C>A (TTN-AS1)
NR_038272.1:n.2043+4253C>A (TTN-AS1)
XM_011511729.1:c.93911G>T (TTN) XP_011510031.1:p.Cys31304Phe
XM_011511730.1:c.67805G>T (TTN) XP_011510032.1:p.Cys22602Phe
XM_011511731.1:c.67664G>T (TTN) XP_011510033.1:p.Cys22555Phe
XM_017004819.1:c.93707G>T (TTN) XP_016860308.1:p.Cys31236Phe
XM_017004820.1:c.89105G>T (TTN) XP_016860309.1:p.Cys29702Phe
XM_017004821.1:c.89102G>T (TTN) XP_016860310.1:p.Cys29701Phe
XM_017004822.1:c.86144G>T (TTN) XP_016860311.1:p.Cys28715Phe
XM_017004823.1:c.67760G>T (TTN) XP_016860312.1:p.Cys22587Phe
XM_024453094.1:c.89255G>T (TTN) XP_024308862.1:p.Cys29752Phe
XM_024453095.1:c.89252G>T (TTN) XP_024308863.1:p.Cys29751Phe
XM_024453096.1:c.88685G>T (TTN) XP_024308864.1:p.Cys29562Phe
XM_024453097.1:c.86027G>T (TTN) XP_024308865.1:p.Cys28676Phe
XM_024453098.1:c.85946G>T (TTN) XP_024308866.1:p.Cys28649Phe
XM_024453099.1:c.67709G>T (TTN) XP_024308867.1:p.Cys22570Phe
XM_024453100.1:c.57563G>T (TTN) XP_024308868.1:p.Cys19188Phe