Canonical Allele Identifier: CA349407164

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530575T>G , CM000664.2:g.178530575T>G GRCh38
NC_000002.11:g.179395302T>G , CM000664.1:g.179395302T>G GRCh37
NC_000002.10:g.179103548T>G NCBI36
NG_011618.3:g.305228A>C , LRG_391:g.305228A>C
NG_051363.1:g.12749T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98336A>C (TTN) ENSP00000343764.6:p.Asn32779Thr
ENST00000342175.11:c.79421A>C (TTN) ENSP00000340554.6:p.Asn26474Thr
ENST00000359218.10:c.79220A>C (TTN) ENSP00000352154.5:p.Asn26407Thr
ENST00000342175.10:c.79421A>C (TTN) ENSP00000340554.6:p.Asn26474Thr
ENST00000342992.10:c.98336A>C (TTN) ENSP00000343764.6:p.Asn32779Thr
ENST00000359218.9:c.79220A>C (TTN) ENSP00000352154.5:p.Asn26407Thr
ENST00000460472.6:c.78845A>C (TTN) ENSP00000434586.1:p.Asn26282Thr
ENST00000589042.5:c.106040A>C (TTN) MANE Select ENSP00000467141.1:p.Asn35347Thr
ENST00000591111.5:c.101117A>C (TTN) ENSP00000465570.1:p.Asn33706Thr
ENST00000615779.4:c.101117A>C (TTN) ENSP00000483597.1:p.Asn33706Thr
NM_001256850.1:c.101117A>C (TTN) NP_001243779.1:p.Asn33706Thr
NM_001267550.2:c.106040A>C (TTN) MANE Select NP_001254479.2:p.Asn35347Thr
NM_003319.4:c.78845A>C (TTN) NP_003310.4:p.Asn26282Thr
NM_133378.4:c.98336A>C (TTN) NP_596869.4:p.Asn32779Thr
NM_133432.3:c.79220A>C (TTN) NP_597676.3:p.Asn26407Thr
NM_133437.4:c.79421A>C (TTN) NP_597681.4:p.Asn26474Thr
NR_038271.1:n.446+6939T>G (TTN-AS1)
NR_038272.1:n.220-5157T>G (TTN-AS1)
XM_011511729.1:c.105137A>C (TTN) XP_011510031.1:p.Asn35046Thr
XM_011511730.1:c.79031A>C (TTN) XP_011510032.1:p.Asn26344Thr
XM_011511731.1:c.78890A>C (TTN) XP_011510033.1:p.Asn26297Thr
XM_017004819.1:c.104933A>C (TTN) XP_016860308.1:p.Asn34978Thr
XM_017004820.1:c.100331A>C (TTN) XP_016860309.1:p.Asn33444Thr
XM_017004821.1:c.100328A>C (TTN) XP_016860310.1:p.Asn33443Thr
XM_017004822.1:c.97370A>C (TTN) XP_016860311.1:p.Asn32457Thr
XM_017004823.1:c.78986A>C (TTN) XP_016860312.1:p.Asn26329Thr
XM_024453094.1:c.100481A>C (TTN) XP_024308862.1:p.Asn33494Thr
XM_024453095.1:c.100478A>C (TTN) XP_024308863.1:p.Asn33493Thr
XM_024453096.1:c.99911A>C (TTN) XP_024308864.1:p.Asn33304Thr
XM_024453097.1:c.97253A>C (TTN) XP_024308865.1:p.Asn32418Thr
XM_024453098.1:c.97172A>C (TTN) XP_024308866.1:p.Asn32391Thr
XM_024453099.1:c.78935A>C (TTN) XP_024308867.1:p.Asn26312Thr
XM_024453100.1:c.68789A>C (TTN) XP_024308868.1:p.Asn22930Thr