Canonical Allele Identifier: CA349427724

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178537540G>C , CM000664.2:g.178537540G>C GRCh38
NC_000002.11:g.179402267G>C , CM000664.1:g.179402267G>C GRCh37
NC_000002.10:g.179110513G>C NCBI36
NG_011618.3:g.298263C>G , LRG_391:g.298263C>G
NG_051363.1:g.19714G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.91963C>G (TTN) ENSP00000343764.6:p.Arg30655Gly
ENST00000342175.11:c.73048C>G (TTN) ENSP00000340554.6:p.Arg24350Gly
ENST00000359218.10:c.72847C>G (TTN) ENSP00000352154.5:p.Arg24283Gly
ENST00000342175.10:c.73048C>G (TTN) ENSP00000340554.6:p.Arg24350Gly
ENST00000342992.10:c.91963C>G (TTN) ENSP00000343764.6:p.Arg30655Gly
ENST00000359218.9:c.72847C>G (TTN) ENSP00000352154.5:p.Arg24283Gly
ENST00000460472.6:c.72472C>G (TTN) ENSP00000434586.1:p.Arg24158Gly
ENST00000589042.5:c.99667C>G (TTN) MANE Select ENSP00000467141.1:p.Arg33223Gly
ENST00000591111.5:c.94744C>G (TTN) ENSP00000465570.1:p.Arg31582Gly
ENST00000615779.4:c.94744C>G (TTN) ENSP00000483597.1:p.Arg31582Gly
NM_001256850.1:c.94744C>G (TTN) NP_001243779.1:p.Arg31582Gly
NM_001267550.2:c.99667C>G (TTN) MANE Select NP_001254479.2:p.Arg33223Gly
NM_003319.4:c.72472C>G (TTN) NP_003310.4:p.Arg24158Gly
NM_133378.4:c.91963C>G (TTN) NP_596869.4:p.Arg30655Gly
NM_133432.3:c.72847C>G (TTN) NP_597676.3:p.Arg24283Gly
NM_133437.4:c.73048C>G (TTN) NP_597681.4:p.Arg24350Gly
NR_038271.1:n.446+13904G>C (TTN-AS1)
NR_038272.1:n.496G>C (TTN-AS1)
XM_011511729.1:c.98764C>G (TTN) XP_011510031.1:p.Arg32922Gly
XM_011511730.1:c.72658C>G (TTN) XP_011510032.1:p.Arg24220Gly
XM_011511731.1:c.72517C>G (TTN) XP_011510033.1:p.Arg24173Gly
XM_017004819.1:c.98560C>G (TTN) XP_016860308.1:p.Arg32854Gly
XM_017004820.1:c.93958C>G (TTN) XP_016860309.1:p.Arg31320Gly
XM_017004821.1:c.93955C>G (TTN) XP_016860310.1:p.Arg31319Gly
XM_017004822.1:c.90997C>G (TTN) XP_016860311.1:p.Arg30333Gly
XM_017004823.1:c.72613C>G (TTN) XP_016860312.1:p.Arg24205Gly
XM_024453094.1:c.94108C>G (TTN) XP_024308862.1:p.Arg31370Gly
XM_024453095.1:c.94105C>G (TTN) XP_024308863.1:p.Arg31369Gly
XM_024453096.1:c.93538C>G (TTN) XP_024308864.1:p.Arg31180Gly
XM_024453097.1:c.90880C>G (TTN) XP_024308865.1:p.Arg30294Gly
XM_024453098.1:c.90799C>G (TTN) XP_024308866.1:p.Arg30267Gly
XM_024453099.1:c.72562C>G (TTN) XP_024308867.1:p.Arg24188Gly
XM_024453100.1:c.62416C>G (TTN) XP_024308868.1:p.Arg20806Gly