Canonical Allele Identifier: CA349512639

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178552667G>C , CM000664.2:g.178552667G>C GRCh38
NC_000002.11:g.179417394G>C , CM000664.1:g.179417394G>C GRCh37
NC_000002.10:g.179125640G>C NCBI36
NG_011618.3:g.283136C>G , LRG_391:g.283136C>G
NG_051363.1:g.34841G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.82529C>G (TTN) ENSP00000343764.6:p.Ser27510Cys
ENST00000342175.11:c.63614C>G (TTN) ENSP00000340554.6:p.Ser21205Cys
ENST00000359218.10:c.63413C>G (TTN) ENSP00000352154.5:p.Ser21138Cys
ENST00000342175.10:c.63614C>G (TTN) ENSP00000340554.6:p.Ser21205Cys
ENST00000342992.10:c.82529C>G (TTN) ENSP00000343764.6:p.Ser27510Cys
ENST00000359218.9:c.63413C>G (TTN) ENSP00000352154.5:p.Ser21138Cys
ENST00000460472.6:c.63038C>G (TTN) ENSP00000434586.1:p.Ser21013Cys
ENST00000589042.5:c.90233C>G (TTN) MANE Select ENSP00000467141.1:p.Ser30078Cys
ENST00000591111.5:c.85310C>G (TTN) ENSP00000465570.1:p.Ser28437Cys
ENST00000615779.4:c.85310C>G (TTN) ENSP00000483597.1:p.Ser28437Cys
NM_001256850.1:c.85310C>G (TTN) NP_001243779.1:p.Ser28437Cys
NM_001267550.2:c.90233C>G (TTN) MANE Select NP_001254479.2:p.Ser30078Cys
NM_003319.4:c.63038C>G (TTN) NP_003310.4:p.Ser21013Cys
NM_133378.4:c.82529C>G (TTN) NP_596869.4:p.Ser27510Cys
NM_133432.3:c.63413C>G (TTN) NP_597676.3:p.Ser21138Cys
NM_133437.4:c.63614C>G (TTN) NP_597681.4:p.Ser21205Cys
NR_038271.1:n.447-18633G>C (TTN-AS1)
NR_038272.1:n.2043+10306G>C (TTN-AS1)
XM_011511729.1:c.89330C>G (TTN) XP_011510031.1:p.Ser29777Cys
XM_011511730.1:c.63224C>G (TTN) XP_011510032.1:p.Ser21075Cys
XM_011511731.1:c.63083C>G (TTN) XP_011510033.1:p.Ser21028Cys
XM_017004819.1:c.89126C>G (TTN) XP_016860308.1:p.Ser29709Cys
XM_017004820.1:c.84524C>G (TTN) XP_016860309.1:p.Ser28175Cys
XM_017004821.1:c.84521C>G (TTN) XP_016860310.1:p.Ser28174Cys
XM_017004822.1:c.81563C>G (TTN) XP_016860311.1:p.Ser27188Cys
XM_017004823.1:c.63179C>G (TTN) XP_016860312.1:p.Ser21060Cys
XM_024453094.1:c.84674C>G (TTN) XP_024308862.1:p.Ser28225Cys
XM_024453095.1:c.84671C>G (TTN) XP_024308863.1:p.Ser28224Cys
XM_024453096.1:c.84104C>G (TTN) XP_024308864.1:p.Ser28035Cys
XM_024453097.1:c.81446C>G (TTN) XP_024308865.1:p.Ser27149Cys
XM_024453098.1:c.81365C>G (TTN) XP_024308866.1:p.Ser27122Cys
XM_024453099.1:c.63128C>G (TTN) XP_024308867.1:p.Ser21043Cys
XM_024453100.1:c.52982C>G (TTN) XP_024308868.1:p.Ser17661Cys