Canonical Allele Identifier: CA349407057

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530527C>A , CM000664.2:g.178530527C>A GRCh38
NC_000002.11:g.179395254C>A , CM000664.1:g.179395254C>A GRCh37
NC_000002.10:g.179103500C>A NCBI36
NG_011618.3:g.305276G>T , LRG_391:g.305276G>T
NG_051363.1:g.12701C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98384G>T (TTN) ENSP00000343764.6:p.Gly32795Val
ENST00000342175.11:c.79469G>T (TTN) ENSP00000340554.6:p.Gly26490Val
ENST00000359218.10:c.79268G>T (TTN) ENSP00000352154.5:p.Gly26423Val
ENST00000342175.10:c.79469G>T (TTN) ENSP00000340554.6:p.Gly26490Val
ENST00000342992.10:c.98384G>T (TTN) ENSP00000343764.6:p.Gly32795Val
ENST00000359218.9:c.79268G>T (TTN) ENSP00000352154.5:p.Gly26423Val
ENST00000460472.6:c.78893G>T (TTN) ENSP00000434586.1:p.Gly26298Val
ENST00000589042.5:c.106088G>T (TTN) MANE Select ENSP00000467141.1:p.Gly35363Val
ENST00000591111.5:c.101165G>T (TTN) ENSP00000465570.1:p.Gly33722Val
ENST00000615779.4:c.101165G>T (TTN) ENSP00000483597.1:p.Gly33722Val
NM_001256850.1:c.101165G>T (TTN) NP_001243779.1:p.Gly33722Val
NM_001267550.2:c.106088G>T (TTN) MANE Select NP_001254479.2:p.Gly35363Val
NM_003319.4:c.78893G>T (TTN) NP_003310.4:p.Gly26298Val
NM_133378.4:c.98384G>T (TTN) NP_596869.4:p.Gly32795Val
NM_133432.3:c.79268G>T (TTN) NP_597676.3:p.Gly26423Val
NM_133437.4:c.79469G>T (TTN) NP_597681.4:p.Gly26490Val
NR_038271.1:n.446+6891C>A (TTN-AS1)
NR_038272.1:n.220-5205C>A (TTN-AS1)
XM_011511729.1:c.105185G>T (TTN) XP_011510031.1:p.Gly35062Val
XM_011511730.1:c.79079G>T (TTN) XP_011510032.1:p.Gly26360Val
XM_011511731.1:c.78938G>T (TTN) XP_011510033.1:p.Gly26313Val
XM_017004819.1:c.104981G>T (TTN) XP_016860308.1:p.Gly34994Val
XM_017004820.1:c.100379G>T (TTN) XP_016860309.1:p.Gly33460Val
XM_017004821.1:c.100376G>T (TTN) XP_016860310.1:p.Gly33459Val
XM_017004822.1:c.97418G>T (TTN) XP_016860311.1:p.Gly32473Val
XM_017004823.1:c.79034G>T (TTN) XP_016860312.1:p.Gly26345Val
XM_024453094.1:c.100529G>T (TTN) XP_024308862.1:p.Gly33510Val
XM_024453095.1:c.100526G>T (TTN) XP_024308863.1:p.Gly33509Val
XM_024453096.1:c.99959G>T (TTN) XP_024308864.1:p.Gly33320Val
XM_024453097.1:c.97301G>T (TTN) XP_024308865.1:p.Gly32434Val
XM_024453098.1:c.97220G>T (TTN) XP_024308866.1:p.Gly32407Val
XM_024453099.1:c.78983G>T (TTN) XP_024308867.1:p.Gly26328Val
XM_024453100.1:c.68837G>T (TTN) XP_024308868.1:p.Gly22946Val