Canonical Allele Identifier: CA349519038

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178553643C>A , CM000664.2:g.178553643C>A GRCh38
NC_000002.11:g.179418370C>A , CM000664.1:g.179418370C>A GRCh37
NC_000002.10:g.179126616C>A NCBI36
NG_011618.3:g.282160G>T , LRG_391:g.282160G>T
NG_051363.1:g.35817C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.81658G>T (TTN) ENSP00000343764.6:p.Gly27220Ter
ENST00000342175.11:c.62743G>T (TTN) ENSP00000340554.6:p.Gly20915Ter
ENST00000359218.10:c.62542G>T (TTN) ENSP00000352154.5:p.Gly20848Ter
ENST00000342175.10:c.62743G>T (TTN) ENSP00000340554.6:p.Gly20915Ter
ENST00000342992.10:c.81658G>T (TTN) ENSP00000343764.6:p.Gly27220Ter
ENST00000359218.9:c.62542G>T (TTN) ENSP00000352154.5:p.Gly20848Ter
ENST00000460472.6:c.62167G>T (TTN) ENSP00000434586.1:p.Gly20723Ter
ENST00000589042.5:c.89362G>T (TTN) MANE Select ENSP00000467141.1:p.Gly29788Ter
ENST00000591111.5:c.84439G>T (TTN) ENSP00000465570.1:p.Gly28147Ter
ENST00000615779.4:c.84439G>T (TTN) ENSP00000483597.1:p.Gly28147Ter
NM_001256850.1:c.84439G>T (TTN) NP_001243779.1:p.Gly28147Ter
NM_001267550.2:c.89362G>T (TTN) MANE Select NP_001254479.2:p.Gly29788Ter
NM_003319.4:c.62167G>T (TTN) NP_003310.4:p.Gly20723Ter
NM_133378.4:c.81658G>T (TTN) NP_596869.4:p.Gly27220Ter
NM_133432.3:c.62542G>T (TTN) NP_597676.3:p.Gly20848Ter
NM_133437.4:c.62743G>T (TTN) NP_597681.4:p.Gly20915Ter
NR_038271.1:n.447-17657C>A (TTN-AS1)
NR_038272.1:n.2043+11282C>A (TTN-AS1)
XM_011511729.1:c.88459G>T (TTN) XP_011510031.1:p.Gly29487Ter
XM_011511730.1:c.62353G>T (TTN) XP_011510032.1:p.Gly20785Ter
XM_011511731.1:c.62212G>T (TTN) XP_011510033.1:p.Gly20738Ter
XM_017004819.1:c.88255G>T (TTN) XP_016860308.1:p.Gly29419Ter
XM_017004820.1:c.83653G>T (TTN) XP_016860309.1:p.Gly27885Ter
XM_017004821.1:c.83650G>T (TTN) XP_016860310.1:p.Gly27884Ter
XM_017004822.1:c.80692G>T (TTN) XP_016860311.1:p.Gly26898Ter
XM_017004823.1:c.62308G>T (TTN) XP_016860312.1:p.Gly20770Ter
XM_024453094.1:c.83803G>T (TTN) XP_024308862.1:p.Gly27935Ter
XM_024453095.1:c.83800G>T (TTN) XP_024308863.1:p.Gly27934Ter
XM_024453096.1:c.83233G>T (TTN) XP_024308864.1:p.Gly27745Ter
XM_024453097.1:c.80575G>T (TTN) XP_024308865.1:p.Gly26859Ter
XM_024453098.1:c.80494G>T (TTN) XP_024308866.1:p.Gly26832Ter
XM_024453099.1:c.62257G>T (TTN) XP_024308867.1:p.Gly20753Ter
XM_024453100.1:c.52111G>T (TTN) XP_024308868.1:p.Gly17371Ter