Canonical Allele Identifier: CA349418837
Community Standard Title: NM_001267550.2(TTN):c.101943C>G (p.Tyr33981Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178534672G>C , CM000664.2:g.178534672G>C GRCh38
NC_000002.11:g.179399399G>C , CM000664.1:g.179399399G>C GRCh37
NC_000002.10:g.179107645G>C NCBI36
NG_011618.3:g.301131C>G , LRG_391:g.301131C>G
NG_051363.1:g.16846G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.101943C>G (TTN) MANE Select NP_001254479.2:p.Tyr33981Ter
ENST00000589042.5:c.101943C>G (TTN) MANE Select ENSP00000467141.1:p.Tyr33981Ter
NM_001256850.1:c.97020C>G (TTN) NP_001243779.1:p.Tyr32340Ter
NM_003319.4:c.74748C>G (TTN) NP_003310.4:p.Tyr24916Ter
NM_133378.4:c.94239C>G (TTN) NP_596869.4:p.Tyr31413Ter
NM_133432.3:c.75123C>G (TTN) NP_597676.3:p.Tyr25041Ter
NM_133437.4:c.75324C>G (TTN) NP_597681.4:p.Tyr25108Ter
NR_038271.1:n.446+11036G>C (TTN-AS1)
NR_038272.1:n.220-1060G>C (TTN-AS1)
ENST00000342175.10:c.75324C>G (TTN) ENSP00000340554.6:p.Tyr25108Ter
ENST00000342175.11:c.75324C>G (TTN) ENSP00000340554.6:p.Tyr25108Ter
ENST00000342992.10:c.94239C>G (TTN) ENSP00000343764.6:p.Tyr31413Ter
ENST00000342992.11:c.94239C>G (TTN) ENSP00000343764.6:p.Tyr31413Ter
ENST00000359218.10:c.75123C>G (TTN) ENSP00000352154.5:p.Tyr25041Ter
ENST00000359218.9:c.75123C>G (TTN) ENSP00000352154.5:p.Tyr25041Ter
ENST00000460472.6:c.74748C>G (TTN) ENSP00000434586.1:p.Tyr24916Ter
ENST00000591111.5:c.97020C>G (TTN) ENSP00000465570.1:p.Tyr32340Ter
ENST00000615779.4:c.97020C>G (TTN) ENSP00000483597.1:p.Tyr32340Ter
XM_011511729.1:c.101040C>G (TTN) XP_011510031.1:p.Tyr33680Ter
XM_011511730.1:c.74934C>G (TTN) XP_011510032.1:p.Tyr24978Ter
XM_011511731.1:c.74793C>G (TTN) XP_011510033.1:p.Tyr24931Ter
XM_017004819.1:c.100836C>G (TTN) XP_016860308.1:p.Tyr33612Ter
XM_017004820.1:c.96234C>G (TTN) XP_016860309.1:p.Tyr32078Ter
XM_017004821.1:c.96231C>G (TTN) XP_016860310.1:p.Tyr32077Ter
XM_017004822.1:c.93273C>G (TTN) XP_016860311.1:p.Tyr31091Ter
XM_017004823.1:c.74889C>G (TTN) XP_016860312.1:p.Tyr24963Ter
XM_024453094.1:c.96384C>G (TTN) XP_024308862.1:p.Tyr32128Ter
XM_024453095.1:c.96381C>G (TTN) XP_024308863.1:p.Tyr32127Ter
XM_024453096.1:c.95814C>G (TTN) XP_024308864.1:p.Tyr31938Ter
XM_024453097.1:c.93156C>G (TTN) XP_024308865.1:p.Tyr31052Ter
XM_024453098.1:c.93075C>G (TTN) XP_024308866.1:p.Tyr31025Ter
XM_024453099.1:c.74838C>G (TTN) XP_024308867.1:p.Tyr24946Ter
XM_024453100.1:c.64692C>G (TTN) XP_024308868.1:p.Tyr21564Ter