Canonical Allele Identifier: CA349503390

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178551745T>A , CM000664.2:g.178551745T>A GRCh38
NC_000002.11:g.179416472T>A , CM000664.1:g.179416472T>A GRCh37
NC_000002.10:g.179124718T>A NCBI36
NG_011618.3:g.284058A>T , LRG_391:g.284058A>T
NG_051363.1:g.33919T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.83451A>T (TTN) ENSP00000343764.6:p.Arg27817Ser
ENST00000342175.11:c.64536A>T (TTN) ENSP00000340554.6:p.Arg21512Ser
ENST00000359218.10:c.64335A>T (TTN) ENSP00000352154.5:p.Arg21445Ser
ENST00000342175.10:c.64536A>T (TTN) ENSP00000340554.6:p.Arg21512Ser
ENST00000342992.10:c.83451A>T (TTN) ENSP00000343764.6:p.Arg27817Ser
ENST00000359218.9:c.64335A>T (TTN) ENSP00000352154.5:p.Arg21445Ser
ENST00000460472.6:c.63960A>T (TTN) ENSP00000434586.1:p.Arg21320Ser
ENST00000589042.5:c.91155A>T (TTN) MANE Select ENSP00000467141.1:p.Arg30385Ser
ENST00000591111.5:c.86232A>T (TTN) ENSP00000465570.1:p.Arg28744Ser
ENST00000615779.4:c.86232A>T (TTN) ENSP00000483597.1:p.Arg28744Ser
NM_001256850.1:c.86232A>T (TTN) NP_001243779.1:p.Arg28744Ser
NM_001267550.2:c.91155A>T (TTN) MANE Select NP_001254479.2:p.Arg30385Ser
NM_003319.4:c.63960A>T (TTN) NP_003310.4:p.Arg21320Ser
NM_133378.4:c.83451A>T (TTN) NP_596869.4:p.Arg27817Ser
NM_133432.3:c.64335A>T (TTN) NP_597676.3:p.Arg21445Ser
NM_133437.4:c.64536A>T (TTN) NP_597681.4:p.Arg21512Ser
NR_038271.1:n.447-19555T>A (TTN-AS1)
NR_038272.1:n.2043+9384T>A (TTN-AS1)
XM_011511729.1:c.90252A>T (TTN) XP_011510031.1:p.Arg30084Ser
XM_011511730.1:c.64146A>T (TTN) XP_011510032.1:p.Arg21382Ser
XM_011511731.1:c.64005A>T (TTN) XP_011510033.1:p.Arg21335Ser
XM_017004819.1:c.90048A>T (TTN) XP_016860308.1:p.Arg30016Ser
XM_017004820.1:c.85446A>T (TTN) XP_016860309.1:p.Arg28482Ser
XM_017004821.1:c.85443A>T (TTN) XP_016860310.1:p.Arg28481Ser
XM_017004822.1:c.82485A>T (TTN) XP_016860311.1:p.Arg27495Ser
XM_017004823.1:c.64101A>T (TTN) XP_016860312.1:p.Arg21367Ser
XM_024453094.1:c.85596A>T (TTN) XP_024308862.1:p.Arg28532Ser
XM_024453095.1:c.85593A>T (TTN) XP_024308863.1:p.Arg28531Ser
XM_024453096.1:c.85026A>T (TTN) XP_024308864.1:p.Arg28342Ser
XM_024453097.1:c.82368A>T (TTN) XP_024308865.1:p.Arg27456Ser
XM_024453098.1:c.82287A>T (TTN) XP_024308866.1:p.Arg27429Ser
XM_024453099.1:c.64050A>T (TTN) XP_024308867.1:p.Arg21350Ser
XM_024453100.1:c.53904A>T (TTN) XP_024308868.1:p.Arg17968Ser