Canonical Allele Identifier: CA349456773

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544375C>A , CM000664.2:g.178544375C>A GRCh38
NC_000002.11:g.179409102C>A , CM000664.1:g.179409102C>A GRCh37
NC_000002.10:g.179117348C>A NCBI36
NG_011618.3:g.291428G>T , LRG_391:g.291428G>T
NG_051363.1:g.26549C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88150G>T (TTN) ENSP00000343764.6:p.Asp29384Tyr
ENST00000342175.11:c.69235G>T (TTN) ENSP00000340554.6:p.Asp23079Tyr
ENST00000359218.10:c.69034G>T (TTN) ENSP00000352154.5:p.Asp23012Tyr
ENST00000342175.10:c.69235G>T (TTN) ENSP00000340554.6:p.Asp23079Tyr
ENST00000342992.10:c.88150G>T (TTN) ENSP00000343764.6:p.Asp29384Tyr
ENST00000359218.9:c.69034G>T (TTN) ENSP00000352154.5:p.Asp23012Tyr
ENST00000460472.6:c.68659G>T (TTN) ENSP00000434586.1:p.Asp22887Tyr
ENST00000589042.5:c.95854G>T (TTN) MANE Select ENSP00000467141.1:p.Asp31952Tyr
ENST00000591111.5:c.90931G>T (TTN) ENSP00000465570.1:p.Asp30311Tyr
ENST00000615779.4:c.90931G>T (TTN) ENSP00000483597.1:p.Asp30311Tyr
NM_001256850.1:c.90931G>T (TTN) NP_001243779.1:p.Asp30311Tyr
NM_001267550.2:c.95854G>T (TTN) MANE Select NP_001254479.2:p.Asp31952Tyr
NM_003319.4:c.68659G>T (TTN) NP_003310.4:p.Asp22887Tyr
NM_133378.4:c.88150G>T (TTN) NP_596869.4:p.Asp29384Tyr
NM_133432.3:c.69034G>T (TTN) NP_597676.3:p.Asp23012Tyr
NM_133437.4:c.69235G>T (TTN) NP_597681.4:p.Asp23079Tyr
NR_038271.1:n.446+20739C>A (TTN-AS1)
NR_038272.1:n.2043+2014C>A (TTN-AS1)
XM_011511729.1:c.94951G>T (TTN) XP_011510031.1:p.Asp31651Tyr
XM_011511730.1:c.68845G>T (TTN) XP_011510032.1:p.Asp22949Tyr
XM_011511731.1:c.68704G>T (TTN) XP_011510033.1:p.Asp22902Tyr
XM_017004819.1:c.94747G>T (TTN) XP_016860308.1:p.Asp31583Tyr
XM_017004820.1:c.90145G>T (TTN) XP_016860309.1:p.Asp30049Tyr
XM_017004821.1:c.90142G>T (TTN) XP_016860310.1:p.Asp30048Tyr
XM_017004822.1:c.87184G>T (TTN) XP_016860311.1:p.Asp29062Tyr
XM_017004823.1:c.68800G>T (TTN) XP_016860312.1:p.Asp22934Tyr
XM_024453094.1:c.90295G>T (TTN) XP_024308862.1:p.Asp30099Tyr
XM_024453095.1:c.90292G>T (TTN) XP_024308863.1:p.Asp30098Tyr
XM_024453096.1:c.89725G>T (TTN) XP_024308864.1:p.Asp29909Tyr
XM_024453097.1:c.87067G>T (TTN) XP_024308865.1:p.Asp29023Tyr
XM_024453098.1:c.86986G>T (TTN) XP_024308866.1:p.Asp28996Tyr
XM_024453099.1:c.68749G>T (TTN) XP_024308867.1:p.Asp22917Tyr
XM_024453100.1:c.58603G>T (TTN) XP_024308868.1:p.Asp19535Tyr