Canonical Allele Identifier: CA349399991

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178527525A>T , CM000664.2:g.178527525A>T GRCh38
NC_000002.11:g.179392252A>T , CM000664.1:g.179392252A>T GRCh37
NC_000002.10:g.179100498A>T NCBI36
NG_011618.3:g.308278T>A , LRG_391:g.308278T>A
NG_051363.1:g.9699A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.99897T>A (TTN) ENSP00000343764.6:p.Ser33299Arg
ENST00000342175.11:c.80982T>A (TTN) ENSP00000340554.6:p.Ser26994Arg
ENST00000359218.10:c.80781T>A (TTN) ENSP00000352154.5:p.Ser26927Arg
ENST00000342175.10:c.80982T>A (TTN) ENSP00000340554.6:p.Ser26994Arg
ENST00000342992.10:c.99897T>A (TTN) ENSP00000343764.6:p.Ser33299Arg
ENST00000359218.9:c.80781T>A (TTN) ENSP00000352154.5:p.Ser26927Arg
ENST00000460472.6:c.80406T>A (TTN) ENSP00000434586.1:p.Ser26802Arg
ENST00000589042.5:c.107601T>A (TTN) MANE Select ENSP00000467141.1:p.Ser35867Arg
ENST00000591111.5:c.102678T>A (TTN) ENSP00000465570.1:p.Ser34226Arg
ENST00000615779.4:c.102678T>A (TTN) ENSP00000483597.1:p.Ser34226Arg
NM_001256850.1:c.102678T>A (TTN) NP_001243779.1:p.Ser34226Arg
NM_001267550.2:c.107601T>A (TTN) MANE Select NP_001254479.2:p.Ser35867Arg
NM_003319.4:c.80406T>A (TTN) NP_003310.4:p.Ser26802Arg
NM_133378.4:c.99897T>A (TTN) NP_596869.4:p.Ser33299Arg
NM_133432.3:c.80781T>A (TTN) NP_597676.3:p.Ser26927Arg
NM_133437.4:c.80982T>A (TTN) NP_597681.4:p.Ser26994Arg
NR_038271.1:n.446+3889A>T (TTN-AS1)
NR_038272.1:n.219+3889A>T (TTN-AS1)
XM_011511729.1:c.106698T>A (TTN) XP_011510031.1:p.Ser35566Arg
XM_011511730.1:c.80592T>A (TTN) XP_011510032.1:p.Ser26864Arg
XM_011511731.1:c.80451T>A (TTN) XP_011510033.1:p.Ser26817Arg
XM_017004819.1:c.106494T>A (TTN) XP_016860308.1:p.Ser35498Arg
XM_017004820.1:c.101892T>A (TTN) XP_016860309.1:p.Ser33964Arg
XM_017004821.1:c.101889T>A (TTN) XP_016860310.1:p.Ser33963Arg
XM_017004822.1:c.98931T>A (TTN) XP_016860311.1:p.Ser32977Arg
XM_017004823.1:c.80547T>A (TTN) XP_016860312.1:p.Ser26849Arg
XM_024453094.1:c.102042T>A (TTN) XP_024308862.1:p.Ser34014Arg
XM_024453095.1:c.102039T>A (TTN) XP_024308863.1:p.Ser34013Arg
XM_024453096.1:c.101472T>A (TTN) XP_024308864.1:p.Ser33824Arg
XM_024453097.1:c.98814T>A (TTN) XP_024308865.1:p.Ser32938Arg
XM_024453098.1:c.98733T>A (TTN) XP_024308866.1:p.Ser32911Arg
XM_024453099.1:c.80496T>A (TTN) XP_024308867.1:p.Ser26832Arg
XM_024453100.1:c.70350T>A (TTN) XP_024308868.1:p.Ser23450Arg