Canonical Allele Identifier: CA349535660

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178557812C>G , CM000664.2:g.178557812C>G GRCh38
NC_000002.11:g.179422539C>G , CM000664.1:g.179422539C>G GRCh37
NC_000002.10:g.179130785C>G NCBI36
NG_011618.3:g.277991G>C , LRG_391:g.277991G>C
NG_051363.1:g.39986C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.79838G>C (TTN) ENSP00000343764.6:p.Ser26613Thr
ENST00000342175.11:c.60923G>C (TTN) ENSP00000340554.6:p.Ser20308Thr
ENST00000359218.10:c.60722G>C (TTN) ENSP00000352154.5:p.Ser20241Thr
ENST00000342175.10:c.60923G>C (TTN) ENSP00000340554.6:p.Ser20308Thr
ENST00000342992.10:c.79838G>C (TTN) ENSP00000343764.6:p.Ser26613Thr
ENST00000359218.9:c.60722G>C (TTN) ENSP00000352154.5:p.Ser20241Thr
ENST00000460472.6:c.60347G>C (TTN) ENSP00000434586.1:p.Ser20116Thr
ENST00000589042.5:c.87542G>C (TTN) MANE Select ENSP00000467141.1:p.Ser29181Thr
ENST00000591111.5:c.82619G>C (TTN) ENSP00000465570.1:p.Ser27540Thr
ENST00000615779.4:c.82619G>C (TTN) ENSP00000483597.1:p.Ser27540Thr
NM_001256850.1:c.82619G>C (TTN) NP_001243779.1:p.Ser27540Thr
NM_001267550.2:c.87542G>C (TTN) MANE Select NP_001254479.2:p.Ser29181Thr
NM_003319.4:c.60347G>C (TTN) NP_003310.4:p.Ser20116Thr
NM_133378.4:c.79838G>C (TTN) NP_596869.4:p.Ser26613Thr
NM_133432.3:c.60722G>C (TTN) NP_597676.3:p.Ser20241Thr
NM_133437.4:c.60923G>C (TTN) NP_597681.4:p.Ser20308Thr
NR_038271.1:n.447-13488C>G (TTN-AS1)
NR_038272.1:n.2043+15451C>G (TTN-AS1)
XM_011511729.1:c.86639G>C (TTN) XP_011510031.1:p.Ser28880Thr
XM_011511730.1:c.60533G>C (TTN) XP_011510032.1:p.Ser20178Thr
XM_011511731.1:c.60392G>C (TTN) XP_011510033.1:p.Ser20131Thr
XM_017004819.1:c.86435G>C (TTN) XP_016860308.1:p.Ser28812Thr
XM_017004820.1:c.81833G>C (TTN) XP_016860309.1:p.Ser27278Thr
XM_017004821.1:c.81830G>C (TTN) XP_016860310.1:p.Ser27277Thr
XM_017004822.1:c.78872G>C (TTN) XP_016860311.1:p.Ser26291Thr
XM_017004823.1:c.60488G>C (TTN) XP_016860312.1:p.Ser20163Thr
XM_024453094.1:c.81983G>C (TTN) XP_024308862.1:p.Ser27328Thr
XM_024453095.1:c.81980G>C (TTN) XP_024308863.1:p.Ser27327Thr
XM_024453096.1:c.81413G>C (TTN) XP_024308864.1:p.Ser27138Thr
XM_024453097.1:c.78755G>C (TTN) XP_024308865.1:p.Ser26252Thr
XM_024453098.1:c.78674G>C (TTN) XP_024308866.1:p.Ser26225Thr
XM_024453099.1:c.60437G>C (TTN) XP_024308867.1:p.Ser20146Thr
XM_024453100.1:c.50291G>C (TTN) XP_024308868.1:p.Ser16764Thr