Canonical Allele Identifier: CA349511650

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178552559G>C , CM000664.2:g.178552559G>C GRCh38
NC_000002.11:g.179417286G>C , CM000664.1:g.179417286G>C GRCh37
NC_000002.10:g.179125532G>C NCBI36
NG_011618.3:g.283244C>G , LRG_391:g.283244C>G
NG_051363.1:g.34733G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.82637C>G (TTN) ENSP00000343764.6:p.Pro27546Arg
ENST00000342175.11:c.63722C>G (TTN) ENSP00000340554.6:p.Pro21241Arg
ENST00000359218.10:c.63521C>G (TTN) ENSP00000352154.5:p.Pro21174Arg
ENST00000342175.10:c.63722C>G (TTN) ENSP00000340554.6:p.Pro21241Arg
ENST00000342992.10:c.82637C>G (TTN) ENSP00000343764.6:p.Pro27546Arg
ENST00000359218.9:c.63521C>G (TTN) ENSP00000352154.5:p.Pro21174Arg
ENST00000460472.6:c.63146C>G (TTN) ENSP00000434586.1:p.Pro21049Arg
ENST00000589042.5:c.90341C>G (TTN) MANE Select ENSP00000467141.1:p.Pro30114Arg
ENST00000591111.5:c.85418C>G (TTN) ENSP00000465570.1:p.Pro28473Arg
ENST00000615779.4:c.85418C>G (TTN) ENSP00000483597.1:p.Pro28473Arg
NM_001256850.1:c.85418C>G (TTN) NP_001243779.1:p.Pro28473Arg
NM_001267550.2:c.90341C>G (TTN) MANE Select NP_001254479.2:p.Pro30114Arg
NM_003319.4:c.63146C>G (TTN) NP_003310.4:p.Pro21049Arg
NM_133378.4:c.82637C>G (TTN) NP_596869.4:p.Pro27546Arg
NM_133432.3:c.63521C>G (TTN) NP_597676.3:p.Pro21174Arg
NM_133437.4:c.63722C>G (TTN) NP_597681.4:p.Pro21241Arg
NR_038271.1:n.447-18741G>C (TTN-AS1)
NR_038272.1:n.2043+10198G>C (TTN-AS1)
XM_011511729.1:c.89438C>G (TTN) XP_011510031.1:p.Pro29813Arg
XM_011511730.1:c.63332C>G (TTN) XP_011510032.1:p.Pro21111Arg
XM_011511731.1:c.63191C>G (TTN) XP_011510033.1:p.Pro21064Arg
XM_017004819.1:c.89234C>G (TTN) XP_016860308.1:p.Pro29745Arg
XM_017004820.1:c.84632C>G (TTN) XP_016860309.1:p.Pro28211Arg
XM_017004821.1:c.84629C>G (TTN) XP_016860310.1:p.Pro28210Arg
XM_017004822.1:c.81671C>G (TTN) XP_016860311.1:p.Pro27224Arg
XM_017004823.1:c.63287C>G (TTN) XP_016860312.1:p.Pro21096Arg
XM_024453094.1:c.84782C>G (TTN) XP_024308862.1:p.Pro28261Arg
XM_024453095.1:c.84779C>G (TTN) XP_024308863.1:p.Pro28260Arg
XM_024453096.1:c.84212C>G (TTN) XP_024308864.1:p.Pro28071Arg
XM_024453097.1:c.81554C>G (TTN) XP_024308865.1:p.Pro27185Arg
XM_024453098.1:c.81473C>G (TTN) XP_024308866.1:p.Pro27158Arg
XM_024453099.1:c.63236C>G (TTN) XP_024308867.1:p.Pro21079Arg
XM_024453100.1:c.53090C>G (TTN) XP_024308868.1:p.Pro17697Arg