Canonical Allele Identifier: CA349502553

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178551635G>C , CM000664.2:g.178551635G>C GRCh38
NC_000002.11:g.179416362G>C , CM000664.1:g.179416362G>C GRCh37
NC_000002.10:g.179124608G>C NCBI36
NG_011618.3:g.284168C>G , LRG_391:g.284168C>G
NG_051363.1:g.33809G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.83561C>G (TTN) ENSP00000343764.6:p.Pro27854Arg
ENST00000342175.11:c.64646C>G (TTN) ENSP00000340554.6:p.Pro21549Arg
ENST00000359218.10:c.64445C>G (TTN) ENSP00000352154.5:p.Pro21482Arg
ENST00000342175.10:c.64646C>G (TTN) ENSP00000340554.6:p.Pro21549Arg
ENST00000342992.10:c.83561C>G (TTN) ENSP00000343764.6:p.Pro27854Arg
ENST00000359218.9:c.64445C>G (TTN) ENSP00000352154.5:p.Pro21482Arg
ENST00000460472.6:c.64070C>G (TTN) ENSP00000434586.1:p.Pro21357Arg
ENST00000589042.5:c.91265C>G (TTN) MANE Select ENSP00000467141.1:p.Pro30422Arg
ENST00000591111.5:c.86342C>G (TTN) ENSP00000465570.1:p.Pro28781Arg
ENST00000615779.4:c.86342C>G (TTN) ENSP00000483597.1:p.Pro28781Arg
NM_001256850.1:c.86342C>G (TTN) NP_001243779.1:p.Pro28781Arg
NM_001267550.2:c.91265C>G (TTN) MANE Select NP_001254479.2:p.Pro30422Arg
NM_003319.4:c.64070C>G (TTN) NP_003310.4:p.Pro21357Arg
NM_133378.4:c.83561C>G (TTN) NP_596869.4:p.Pro27854Arg
NM_133432.3:c.64445C>G (TTN) NP_597676.3:p.Pro21482Arg
NM_133437.4:c.64646C>G (TTN) NP_597681.4:p.Pro21549Arg
NR_038271.1:n.447-19665G>C (TTN-AS1)
NR_038272.1:n.2043+9274G>C (TTN-AS1)
XM_011511729.1:c.90362C>G (TTN) XP_011510031.1:p.Pro30121Arg
XM_011511730.1:c.64256C>G (TTN) XP_011510032.1:p.Pro21419Arg
XM_011511731.1:c.64115C>G (TTN) XP_011510033.1:p.Pro21372Arg
XM_017004819.1:c.90158C>G (TTN) XP_016860308.1:p.Pro30053Arg
XM_017004820.1:c.85556C>G (TTN) XP_016860309.1:p.Pro28519Arg
XM_017004821.1:c.85553C>G (TTN) XP_016860310.1:p.Pro28518Arg
XM_017004822.1:c.82595C>G (TTN) XP_016860311.1:p.Pro27532Arg
XM_017004823.1:c.64211C>G (TTN) XP_016860312.1:p.Pro21404Arg
XM_024453094.1:c.85706C>G (TTN) XP_024308862.1:p.Pro28569Arg
XM_024453095.1:c.85703C>G (TTN) XP_024308863.1:p.Pro28568Arg
XM_024453096.1:c.85136C>G (TTN) XP_024308864.1:p.Pro28379Arg
XM_024453097.1:c.82478C>G (TTN) XP_024308865.1:p.Pro27493Arg
XM_024453098.1:c.82397C>G (TTN) XP_024308866.1:p.Pro27466Arg
XM_024453099.1:c.64160C>G (TTN) XP_024308867.1:p.Pro21387Arg
XM_024453100.1:c.54014C>G (TTN) XP_024308868.1:p.Pro18005Arg