Canonical Allele Identifier: CA349450392

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178543854G>C , CM000664.2:g.178543854G>C GRCh38
NC_000002.11:g.179408581G>C , CM000664.1:g.179408581G>C GRCh37
NC_000002.10:g.179116827G>C NCBI36
NG_011618.3:g.291949C>G , LRG_391:g.291949C>G
NG_051363.1:g.26028G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88586C>G (TTN) ENSP00000343764.6:p.Thr29529Arg
ENST00000342175.11:c.69671C>G (TTN) ENSP00000340554.6:p.Thr23224Arg
ENST00000359218.10:c.69470C>G (TTN) ENSP00000352154.5:p.Thr23157Arg
ENST00000342175.10:c.69671C>G (TTN) ENSP00000340554.6:p.Thr23224Arg
ENST00000342992.10:c.88586C>G (TTN) ENSP00000343764.6:p.Thr29529Arg
ENST00000359218.9:c.69470C>G (TTN) ENSP00000352154.5:p.Thr23157Arg
ENST00000460472.6:c.69095C>G (TTN) ENSP00000434586.1:p.Thr23032Arg
ENST00000589042.5:c.96290C>G (TTN) MANE Select ENSP00000467141.1:p.Thr32097Arg
ENST00000591111.5:c.91367C>G (TTN) ENSP00000465570.1:p.Thr30456Arg
ENST00000615779.4:c.91367C>G (TTN) ENSP00000483597.1:p.Thr30456Arg
NM_001256850.1:c.91367C>G (TTN) NP_001243779.1:p.Thr30456Arg
NM_001267550.2:c.96290C>G (TTN) MANE Select NP_001254479.2:p.Thr32097Arg
NM_003319.4:c.69095C>G (TTN) NP_003310.4:p.Thr23032Arg
NM_133378.4:c.88586C>G (TTN) NP_596869.4:p.Thr29529Arg
NM_133432.3:c.69470C>G (TTN) NP_597676.3:p.Thr23157Arg
NM_133437.4:c.69671C>G (TTN) NP_597681.4:p.Thr23224Arg
NR_038271.1:n.446+20218G>C (TTN-AS1)
NR_038272.1:n.2043+1493G>C (TTN-AS1)
XM_011511729.1:c.95387C>G (TTN) XP_011510031.1:p.Thr31796Arg
XM_011511730.1:c.69281C>G (TTN) XP_011510032.1:p.Thr23094Arg
XM_011511731.1:c.69140C>G (TTN) XP_011510033.1:p.Thr23047Arg
XM_017004819.1:c.95183C>G (TTN) XP_016860308.1:p.Thr31728Arg
XM_017004820.1:c.90581C>G (TTN) XP_016860309.1:p.Thr30194Arg
XM_017004821.1:c.90578C>G (TTN) XP_016860310.1:p.Thr30193Arg
XM_017004822.1:c.87620C>G (TTN) XP_016860311.1:p.Thr29207Arg
XM_017004823.1:c.69236C>G (TTN) XP_016860312.1:p.Thr23079Arg
XM_024453094.1:c.90731C>G (TTN) XP_024308862.1:p.Thr30244Arg
XM_024453095.1:c.90728C>G (TTN) XP_024308863.1:p.Thr30243Arg
XM_024453096.1:c.90161C>G (TTN) XP_024308864.1:p.Thr30054Arg
XM_024453097.1:c.87503C>G (TTN) XP_024308865.1:p.Thr29168Arg
XM_024453098.1:c.87422C>G (TTN) XP_024308866.1:p.Thr29141Arg
XM_024453099.1:c.69185C>G (TTN) XP_024308867.1:p.Thr23062Arg
XM_024453100.1:c.59039C>G (TTN) XP_024308868.1:p.Thr19680Arg