Canonical Allele Identifier: CA349489134

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.85256A>T (TTN) ENSP00000343764.6:p.Asn28419Ile
ENST00000342175.11:c.66341A>T (TTN) ENSP00000340554.6:p.Asn22114Ile
ENST00000359218.10:c.66140A>T (TTN) ENSP00000352154.5:p.Asn22047Ile
ENST00000342175.10:c.66341A>T (TTN) ENSP00000340554.6:p.Asn22114Ile
ENST00000342992.10:c.85256A>T (TTN) ENSP00000343764.6:p.Asn28419Ile
ENST00000359218.9:c.66140A>T (TTN) ENSP00000352154.5:p.Asn22047Ile
ENST00000460472.6:c.65765A>T (TTN) ENSP00000434586.1:p.Asn21922Ile
ENST00000589042.5:c.92960A>T (TTN) MANE Select ENSP00000467141.1:p.Asn30987Ile
ENST00000591111.5:c.88037A>T (TTN) ENSP00000465570.1:p.Asn29346Ile
ENST00000615779.4:c.88037A>T (TTN) ENSP00000483597.1:p.Asn29346Ile
NM_001256850.1:c.88037A>T (TTN) NP_001243779.1:p.Asn29346Ile
NM_001267550.2:c.92960A>T (TTN) MANE Select NP_001254479.2:p.Asn30987Ile
NM_003319.4:c.65765A>T (TTN) NP_003310.4:p.Asn21922Ile
NM_133378.4:c.85256A>T (TTN) NP_596869.4:p.Asn28419Ile
NM_133432.3:c.66140A>T (TTN) NP_597676.3:p.Asn22047Ile
NM_133437.4:c.66341A>T (TTN) NP_597681.4:p.Asn22114Ile
NR_038271.1:n.447-22634T>A (TTN-AS1)
NR_038272.1:n.2043+6305T>A (TTN-AS1)
XM_011511729.1:c.92057A>T (TTN) XP_011510031.1:p.Asn30686Ile
XM_011511730.1:c.65951A>T (TTN) XP_011510032.1:p.Asn21984Ile
XM_011511731.1:c.65810A>T (TTN) XP_011510033.1:p.Asn21937Ile
XM_017004819.1:c.91853A>T (TTN) XP_016860308.1:p.Asn30618Ile
XM_017004820.1:c.87251A>T (TTN) XP_016860309.1:p.Asn29084Ile
XM_017004821.1:c.87248A>T (TTN) XP_016860310.1:p.Asn29083Ile
XM_017004822.1:c.84290A>T (TTN) XP_016860311.1:p.Asn28097Ile
XM_017004823.1:c.65906A>T (TTN) XP_016860312.1:p.Asn21969Ile
XM_024453094.1:c.87401A>T (TTN) XP_024308862.1:p.Asn29134Ile
XM_024453095.1:c.87398A>T (TTN) XP_024308863.1:p.Asn29133Ile
XM_024453096.1:c.86831A>T (TTN) XP_024308864.1:p.Asn28944Ile
XM_024453097.1:c.84173A>T (TTN) XP_024308865.1:p.Asn28058Ile
XM_024453098.1:c.84092A>T (TTN) XP_024308866.1:p.Asn28031Ile
XM_024453099.1:c.65855A>T (TTN) XP_024308867.1:p.Asn21952Ile
XM_024453100.1:c.55709A>T (TTN) XP_024308868.1:p.Asn18570Ile