Canonical Allele Identifier: CA349489122

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178548665G>C , CM000664.2:g.178548665G>C GRCh38
NC_000002.11:g.179413392G>C , CM000664.1:g.179413392G>C GRCh37
NC_000002.10:g.179121638G>C NCBI36
NG_011618.3:g.287138C>G , LRG_391:g.287138C>G
NG_051363.1:g.30839G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.85257C>G (TTN) ENSP00000343764.6:p.Asn28419Lys
ENST00000342175.11:c.66342C>G (TTN) ENSP00000340554.6:p.Asn22114Lys
ENST00000359218.10:c.66141C>G (TTN) ENSP00000352154.5:p.Asn22047Lys
ENST00000342175.10:c.66342C>G (TTN) ENSP00000340554.6:p.Asn22114Lys
ENST00000342992.10:c.85257C>G (TTN) ENSP00000343764.6:p.Asn28419Lys
ENST00000359218.9:c.66141C>G (TTN) ENSP00000352154.5:p.Asn22047Lys
ENST00000460472.6:c.65766C>G (TTN) ENSP00000434586.1:p.Asn21922Lys
ENST00000589042.5:c.92961C>G (TTN) MANE Select ENSP00000467141.1:p.Asn30987Lys
ENST00000591111.5:c.88038C>G (TTN) ENSP00000465570.1:p.Asn29346Lys
ENST00000615779.4:c.88038C>G (TTN) ENSP00000483597.1:p.Asn29346Lys
NM_001256850.1:c.88038C>G (TTN) NP_001243779.1:p.Asn29346Lys
NM_001267550.2:c.92961C>G (TTN) MANE Select NP_001254479.2:p.Asn30987Lys
NM_003319.4:c.65766C>G (TTN) NP_003310.4:p.Asn21922Lys
NM_133378.4:c.85257C>G (TTN) NP_596869.4:p.Asn28419Lys
NM_133432.3:c.66141C>G (TTN) NP_597676.3:p.Asn22047Lys
NM_133437.4:c.66342C>G (TTN) NP_597681.4:p.Asn22114Lys
NR_038271.1:n.447-22635G>C (TTN-AS1)
NR_038272.1:n.2043+6304G>C (TTN-AS1)
XM_011511729.1:c.92058C>G (TTN) XP_011510031.1:p.Asn30686Lys
XM_011511730.1:c.65952C>G (TTN) XP_011510032.1:p.Asn21984Lys
XM_011511731.1:c.65811C>G (TTN) XP_011510033.1:p.Asn21937Lys
XM_017004819.1:c.91854C>G (TTN) XP_016860308.1:p.Asn30618Lys
XM_017004820.1:c.87252C>G (TTN) XP_016860309.1:p.Asn29084Lys
XM_017004821.1:c.87249C>G (TTN) XP_016860310.1:p.Asn29083Lys
XM_017004822.1:c.84291C>G (TTN) XP_016860311.1:p.Asn28097Lys
XM_017004823.1:c.65907C>G (TTN) XP_016860312.1:p.Asn21969Lys
XM_024453094.1:c.87402C>G (TTN) XP_024308862.1:p.Asn29134Lys
XM_024453095.1:c.87399C>G (TTN) XP_024308863.1:p.Asn29133Lys
XM_024453096.1:c.86832C>G (TTN) XP_024308864.1:p.Asn28944Lys
XM_024453097.1:c.84174C>G (TTN) XP_024308865.1:p.Asn28058Lys
XM_024453098.1:c.84093C>G (TTN) XP_024308866.1:p.Asn28031Lys
XM_024453099.1:c.65856C>G (TTN) XP_024308867.1:p.Asn21952Lys
XM_024453100.1:c.55710C>G (TTN) XP_024308868.1:p.Asn18570Lys