Canonical Allele Identifier: CA349479361

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178590917T>G , CM000664.2:g.178590917T>G GRCh38
NC_000002.11:g.179455644T>G , CM000664.1:g.179455644T>G GRCh37
NC_000002.10:g.179163890T>G NCBI36
NG_011618.3:g.244886A>C , LRG_391:g.244886A>C
NG_051363.1:g.73091T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.53104A>C (TTN) ENSP00000343764.6:p.Ser17702Arg
ENST00000342175.11:c.34189A>C (TTN) ENSP00000340554.6:p.Ser11397Arg
ENST00000359218.10:c.33988A>C (TTN) ENSP00000352154.5:p.Ser11330Arg
ENST00000342175.10:c.34189A>C (TTN) ENSP00000340554.6:p.Ser11397Arg
ENST00000342992.10:c.53104A>C (TTN) ENSP00000343764.6:p.Ser17702Arg
ENST00000359218.9:c.33988A>C (TTN) ENSP00000352154.5:p.Ser11330Arg
ENST00000460472.6:c.33613A>C (TTN) ENSP00000434586.1:p.Ser11205Arg
ENST00000589042.5:c.60808A>C (TTN) MANE Select ENSP00000467141.1:p.Ser20270Arg
ENST00000591111.5:c.55885A>C (TTN) ENSP00000465570.1:p.Ser18629Arg
ENST00000615779.4:c.55885A>C (TTN) ENSP00000483597.1:p.Ser18629Arg
NM_001256850.1:c.55885A>C (TTN) NP_001243779.1:p.Ser18629Arg
NM_001267550.2:c.60808A>C (TTN) MANE Select NP_001254479.2:p.Ser20270Arg
NM_003319.4:c.33613A>C (TTN) NP_003310.4:p.Ser11205Arg
NM_133378.4:c.53104A>C (TTN) NP_596869.4:p.Ser17702Arg
NM_133432.3:c.33988A>C (TTN) NP_597676.3:p.Ser11330Arg
NM_133437.4:c.34189A>C (TTN) NP_597681.4:p.Ser11397Arg
NR_038271.1:n.597-6679T>G (TTN-AS1)
NR_038272.1:n.3189-222T>G (TTN-AS1)
XM_011511729.1:c.59905A>C (TTN) XP_011510031.1:p.Ser19969Arg
XM_011511730.1:c.33799A>C (TTN) XP_011510032.1:p.Ser11267Arg
XM_011511731.1:c.33658A>C (TTN) XP_011510033.1:p.Ser11220Arg
XM_017004819.1:c.59701A>C (TTN) XP_016860308.1:p.Ser19901Arg
XM_017004820.1:c.55099A>C (TTN) XP_016860309.1:p.Ser18367Arg
XM_017004821.1:c.55096A>C (TTN) XP_016860310.1:p.Ser18366Arg
XM_017004822.1:c.52138A>C (TTN) XP_016860311.1:p.Ser17380Arg
XM_017004823.1:c.33754A>C (TTN) XP_016860312.1:p.Ser11252Arg
XM_024453094.1:c.55249A>C (TTN) XP_024308862.1:p.Ser18417Arg
XM_024453095.1:c.55246A>C (TTN) XP_024308863.1:p.Ser18416Arg
XM_024453096.1:c.54679A>C (TTN) XP_024308864.1:p.Ser18227Arg
XM_024453097.1:c.52021A>C (TTN) XP_024308865.1:p.Ser17341Arg
XM_024453098.1:c.51940A>C (TTN) XP_024308866.1:p.Ser17314Arg
XM_024453099.1:c.33703A>C (TTN) XP_024308867.1:p.Ser11235Arg
XM_024453100.1:c.23557A>C (TTN) XP_024308868.1:p.Ser7853Arg