Canonical Allele Identifier: CA349398226

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178527052G>T , CM000664.2:g.178527052G>T GRCh38
NC_000002.11:g.179391779G>T , CM000664.1:g.179391779G>T GRCh37
NC_000002.10:g.179100025G>T NCBI36
NG_011618.3:g.308751C>A , LRG_391:g.308751C>A
NG_051363.1:g.9226G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.100232C>A (TTN) ENSP00000343764.6:p.Ser33411Tyr
ENST00000342175.11:c.81317C>A (TTN) ENSP00000340554.6:p.Ser27106Tyr
ENST00000359218.10:c.81116C>A (TTN) ENSP00000352154.5:p.Ser27039Tyr
ENST00000342175.10:c.81317C>A (TTN) ENSP00000340554.6:p.Ser27106Tyr
ENST00000342992.10:c.100232C>A (TTN) ENSP00000343764.6:p.Ser33411Tyr
ENST00000359218.9:c.81116C>A (TTN) ENSP00000352154.5:p.Ser27039Tyr
ENST00000460472.6:c.80741C>A (TTN) ENSP00000434586.1:p.Ser26914Tyr
ENST00000589042.5:c.107936C>A (TTN) MANE Select ENSP00000467141.1:p.Ser35979Tyr
ENST00000591111.5:c.103013C>A (TTN) ENSP00000465570.1:p.Ser34338Tyr
ENST00000615779.4:c.103013C>A (TTN) ENSP00000483597.1:p.Ser34338Tyr
NM_001256850.1:c.103013C>A (TTN) NP_001243779.1:p.Ser34338Tyr
NM_001267550.2:c.107936C>A (TTN) MANE Select NP_001254479.2:p.Ser35979Tyr
NM_003319.4:c.80741C>A (TTN) NP_003310.4:p.Ser26914Tyr
NM_133378.4:c.100232C>A (TTN) NP_596869.4:p.Ser33411Tyr
NM_133432.3:c.81116C>A (TTN) NP_597676.3:p.Ser27039Tyr
NM_133437.4:c.81317C>A (TTN) NP_597681.4:p.Ser27106Tyr
NR_038271.1:n.446+3416G>T (TTN-AS1)
NR_038272.1:n.219+3416G>T (TTN-AS1)
XM_011511729.1:c.107033C>A (TTN) XP_011510031.1:p.Ser35678Tyr
XM_011511730.1:c.80927C>A (TTN) XP_011510032.1:p.Ser26976Tyr
XM_011511731.1:c.80786C>A (TTN) XP_011510033.1:p.Ser26929Tyr
XM_017004819.1:c.106829C>A (TTN) XP_016860308.1:p.Ser35610Tyr
XM_017004820.1:c.102227C>A (TTN) XP_016860309.1:p.Ser34076Tyr
XM_017004821.1:c.102224C>A (TTN) XP_016860310.1:p.Ser34075Tyr
XM_017004822.1:c.99266C>A (TTN) XP_016860311.1:p.Ser33089Tyr
XM_017004823.1:c.80882C>A (TTN) XP_016860312.1:p.Ser26961Tyr
XM_024453094.1:c.102377C>A (TTN) XP_024308862.1:p.Ser34126Tyr
XM_024453095.1:c.102374C>A (TTN) XP_024308863.1:p.Ser34125Tyr
XM_024453096.1:c.101807C>A (TTN) XP_024308864.1:p.Ser33936Tyr
XM_024453097.1:c.99149C>A (TTN) XP_024308865.1:p.Ser33050Tyr
XM_024453098.1:c.99068C>A (TTN) XP_024308866.1:p.Ser33023Tyr
XM_024453099.1:c.80831C>A (TTN) XP_024308867.1:p.Ser26944Tyr
XM_024453100.1:c.70685C>A (TTN) XP_024308868.1:p.Ser23562Tyr