Canonical Allele Identifier: CA349489144

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178548666T>G , CM000664.2:g.178548666T>G GRCh38
NC_000002.11:g.179413393T>G , CM000664.1:g.179413393T>G GRCh37
NC_000002.10:g.179121639T>G NCBI36
NG_011618.3:g.287137A>C , LRG_391:g.287137A>C
NG_051363.1:g.30840T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.85256A>C (TTN) ENSP00000343764.6:p.Asn28419Thr
ENST00000342175.11:c.66341A>C (TTN) ENSP00000340554.6:p.Asn22114Thr
ENST00000359218.10:c.66140A>C (TTN) ENSP00000352154.5:p.Asn22047Thr
ENST00000342175.10:c.66341A>C (TTN) ENSP00000340554.6:p.Asn22114Thr
ENST00000342992.10:c.85256A>C (TTN) ENSP00000343764.6:p.Asn28419Thr
ENST00000359218.9:c.66140A>C (TTN) ENSP00000352154.5:p.Asn22047Thr
ENST00000460472.6:c.65765A>C (TTN) ENSP00000434586.1:p.Asn21922Thr
ENST00000589042.5:c.92960A>C (TTN) MANE Select ENSP00000467141.1:p.Asn30987Thr
ENST00000591111.5:c.88037A>C (TTN) ENSP00000465570.1:p.Asn29346Thr
ENST00000615779.4:c.88037A>C (TTN) ENSP00000483597.1:p.Asn29346Thr
NM_001256850.1:c.88037A>C (TTN) NP_001243779.1:p.Asn29346Thr
NM_001267550.2:c.92960A>C (TTN) MANE Select NP_001254479.2:p.Asn30987Thr
NM_003319.4:c.65765A>C (TTN) NP_003310.4:p.Asn21922Thr
NM_133378.4:c.85256A>C (TTN) NP_596869.4:p.Asn28419Thr
NM_133432.3:c.66140A>C (TTN) NP_597676.3:p.Asn22047Thr
NM_133437.4:c.66341A>C (TTN) NP_597681.4:p.Asn22114Thr
NR_038271.1:n.447-22634T>G (TTN-AS1)
NR_038272.1:n.2043+6305T>G (TTN-AS1)
XM_011511729.1:c.92057A>C (TTN) XP_011510031.1:p.Asn30686Thr
XM_011511730.1:c.65951A>C (TTN) XP_011510032.1:p.Asn21984Thr
XM_011511731.1:c.65810A>C (TTN) XP_011510033.1:p.Asn21937Thr
XM_017004819.1:c.91853A>C (TTN) XP_016860308.1:p.Asn30618Thr
XM_017004820.1:c.87251A>C (TTN) XP_016860309.1:p.Asn29084Thr
XM_017004821.1:c.87248A>C (TTN) XP_016860310.1:p.Asn29083Thr
XM_017004822.1:c.84290A>C (TTN) XP_016860311.1:p.Asn28097Thr
XM_017004823.1:c.65906A>C (TTN) XP_016860312.1:p.Asn21969Thr
XM_024453094.1:c.87401A>C (TTN) XP_024308862.1:p.Asn29134Thr
XM_024453095.1:c.87398A>C (TTN) XP_024308863.1:p.Asn29133Thr
XM_024453096.1:c.86831A>C (TTN) XP_024308864.1:p.Asn28944Thr
XM_024453097.1:c.84173A>C (TTN) XP_024308865.1:p.Asn28058Thr
XM_024453098.1:c.84092A>C (TTN) XP_024308866.1:p.Asn28031Thr
XM_024453099.1:c.65855A>C (TTN) XP_024308867.1:p.Asn21952Thr
XM_024453100.1:c.55709A>C (TTN) XP_024308868.1:p.Asn18570Thr