Canonical Allele Identifier: CA349427722

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178537539C>G , CM000664.2:g.178537539C>G GRCh38
NC_000002.11:g.179402266C>G , CM000664.1:g.179402266C>G GRCh37
NC_000002.10:g.179110512C>G NCBI36
NG_011618.3:g.298264G>C , LRG_391:g.298264G>C
NG_051363.1:g.19713C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.91964G>C (TTN) ENSP00000343764.6:p.Arg30655Pro
ENST00000342175.11:c.73049G>C (TTN) ENSP00000340554.6:p.Arg24350Pro
ENST00000359218.10:c.72848G>C (TTN) ENSP00000352154.5:p.Arg24283Pro
ENST00000342175.10:c.73049G>C (TTN) ENSP00000340554.6:p.Arg24350Pro
ENST00000342992.10:c.91964G>C (TTN) ENSP00000343764.6:p.Arg30655Pro
ENST00000359218.9:c.72848G>C (TTN) ENSP00000352154.5:p.Arg24283Pro
ENST00000460472.6:c.72473G>C (TTN) ENSP00000434586.1:p.Arg24158Pro
ENST00000589042.5:c.99668G>C (TTN) MANE Select ENSP00000467141.1:p.Arg33223Pro
ENST00000591111.5:c.94745G>C (TTN) ENSP00000465570.1:p.Arg31582Pro
ENST00000615779.4:c.94745G>C (TTN) ENSP00000483597.1:p.Arg31582Pro
NM_001256850.1:c.94745G>C (TTN) NP_001243779.1:p.Arg31582Pro
NM_001267550.2:c.99668G>C (TTN) MANE Select NP_001254479.2:p.Arg33223Pro
NM_003319.4:c.72473G>C (TTN) NP_003310.4:p.Arg24158Pro
NM_133378.4:c.91964G>C (TTN) NP_596869.4:p.Arg30655Pro
NM_133432.3:c.72848G>C (TTN) NP_597676.3:p.Arg24283Pro
NM_133437.4:c.73049G>C (TTN) NP_597681.4:p.Arg24350Pro
NR_038271.1:n.446+13903C>G (TTN-AS1)
NR_038272.1:n.495C>G (TTN-AS1)
XM_011511729.1:c.98765G>C (TTN) XP_011510031.1:p.Arg32922Pro
XM_011511730.1:c.72659G>C (TTN) XP_011510032.1:p.Arg24220Pro
XM_011511731.1:c.72518G>C (TTN) XP_011510033.1:p.Arg24173Pro
XM_017004819.1:c.98561G>C (TTN) XP_016860308.1:p.Arg32854Pro
XM_017004820.1:c.93959G>C (TTN) XP_016860309.1:p.Arg31320Pro
XM_017004821.1:c.93956G>C (TTN) XP_016860310.1:p.Arg31319Pro
XM_017004822.1:c.90998G>C (TTN) XP_016860311.1:p.Arg30333Pro
XM_017004823.1:c.72614G>C (TTN) XP_016860312.1:p.Arg24205Pro
XM_024453094.1:c.94109G>C (TTN) XP_024308862.1:p.Arg31370Pro
XM_024453095.1:c.94106G>C (TTN) XP_024308863.1:p.Arg31369Pro
XM_024453096.1:c.93539G>C (TTN) XP_024308864.1:p.Arg31180Pro
XM_024453097.1:c.90881G>C (TTN) XP_024308865.1:p.Arg30294Pro
XM_024453098.1:c.90800G>C (TTN) XP_024308866.1:p.Arg30267Pro
XM_024453099.1:c.72563G>C (TTN) XP_024308867.1:p.Arg24188Pro
XM_024453100.1:c.62417G>C (TTN) XP_024308868.1:p.Arg20806Pro