Canonical Allele Identifier: CA349456713

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544369C>A , CM000664.2:g.178544369C>A GRCh38
NC_000002.11:g.179409096C>A , CM000664.1:g.179409096C>A GRCh37
NC_000002.10:g.179117342C>A NCBI36
NG_011618.3:g.291434G>T , LRG_391:g.291434G>T
NG_051363.1:g.26543C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88156G>T (TTN) ENSP00000343764.6:p.Asp29386Tyr
ENST00000342175.11:c.69241G>T (TTN) ENSP00000340554.6:p.Asp23081Tyr
ENST00000359218.10:c.69040G>T (TTN) ENSP00000352154.5:p.Asp23014Tyr
ENST00000342175.10:c.69241G>T (TTN) ENSP00000340554.6:p.Asp23081Tyr
ENST00000342992.10:c.88156G>T (TTN) ENSP00000343764.6:p.Asp29386Tyr
ENST00000359218.9:c.69040G>T (TTN) ENSP00000352154.5:p.Asp23014Tyr
ENST00000460472.6:c.68665G>T (TTN) ENSP00000434586.1:p.Asp22889Tyr
ENST00000589042.5:c.95860G>T (TTN) MANE Select ENSP00000467141.1:p.Asp31954Tyr
ENST00000591111.5:c.90937G>T (TTN) ENSP00000465570.1:p.Asp30313Tyr
ENST00000615779.4:c.90937G>T (TTN) ENSP00000483597.1:p.Asp30313Tyr
NM_001256850.1:c.90937G>T (TTN) NP_001243779.1:p.Asp30313Tyr
NM_001267550.2:c.95860G>T (TTN) MANE Select NP_001254479.2:p.Asp31954Tyr
NM_003319.4:c.68665G>T (TTN) NP_003310.4:p.Asp22889Tyr
NM_133378.4:c.88156G>T (TTN) NP_596869.4:p.Asp29386Tyr
NM_133432.3:c.69040G>T (TTN) NP_597676.3:p.Asp23014Tyr
NM_133437.4:c.69241G>T (TTN) NP_597681.4:p.Asp23081Tyr
NR_038271.1:n.446+20733C>A (TTN-AS1)
NR_038272.1:n.2043+2008C>A (TTN-AS1)
XM_011511729.1:c.94957G>T (TTN) XP_011510031.1:p.Asp31653Tyr
XM_011511730.1:c.68851G>T (TTN) XP_011510032.1:p.Asp22951Tyr
XM_011511731.1:c.68710G>T (TTN) XP_011510033.1:p.Asp22904Tyr
XM_017004819.1:c.94753G>T (TTN) XP_016860308.1:p.Asp31585Tyr
XM_017004820.1:c.90151G>T (TTN) XP_016860309.1:p.Asp30051Tyr
XM_017004821.1:c.90148G>T (TTN) XP_016860310.1:p.Asp30050Tyr
XM_017004822.1:c.87190G>T (TTN) XP_016860311.1:p.Asp29064Tyr
XM_017004823.1:c.68806G>T (TTN) XP_016860312.1:p.Asp22936Tyr
XM_024453094.1:c.90301G>T (TTN) XP_024308862.1:p.Asp30101Tyr
XM_024453095.1:c.90298G>T (TTN) XP_024308863.1:p.Asp30100Tyr
XM_024453096.1:c.89731G>T (TTN) XP_024308864.1:p.Asp29911Tyr
XM_024453097.1:c.87073G>T (TTN) XP_024308865.1:p.Asp29025Tyr
XM_024453098.1:c.86992G>T (TTN) XP_024308866.1:p.Asp28998Tyr
XM_024453099.1:c.68755G>T (TTN) XP_024308867.1:p.Asp22919Tyr
XM_024453100.1:c.58609G>T (TTN) XP_024308868.1:p.Asp19537Tyr