Canonical Allele Identifier: CA349446311

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178543336C>A , CM000664.2:g.178543336C>A GRCh38
NC_000002.11:g.179408063C>A , CM000664.1:g.179408063C>A GRCh37
NC_000002.10:g.179116309C>A NCBI36
NG_011618.3:g.292467G>T , LRG_391:g.292467G>T
NG_051363.1:g.25510C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88933G>T (TTN) ENSP00000343764.6:p.Asp29645Tyr
ENST00000342175.11:c.70018G>T (TTN) ENSP00000340554.6:p.Asp23340Tyr
ENST00000359218.10:c.69817G>T (TTN) ENSP00000352154.5:p.Asp23273Tyr
ENST00000342175.10:c.70018G>T (TTN) ENSP00000340554.6:p.Asp23340Tyr
ENST00000342992.10:c.88933G>T (TTN) ENSP00000343764.6:p.Asp29645Tyr
ENST00000359218.9:c.69817G>T (TTN) ENSP00000352154.5:p.Asp23273Tyr
ENST00000460472.6:c.69442G>T (TTN) ENSP00000434586.1:p.Asp23148Tyr
ENST00000589042.5:c.96637G>T (TTN) MANE Select ENSP00000467141.1:p.Asp32213Tyr
ENST00000591111.5:c.91714G>T (TTN) ENSP00000465570.1:p.Asp30572Tyr
ENST00000615779.4:c.91714G>T (TTN) ENSP00000483597.1:p.Asp30572Tyr
NM_001256850.1:c.91714G>T (TTN) NP_001243779.1:p.Asp30572Tyr
NM_001267550.2:c.96637G>T (TTN) MANE Select NP_001254479.2:p.Asp32213Tyr
NM_003319.4:c.69442G>T (TTN) NP_003310.4:p.Asp23148Tyr
NM_133378.4:c.88933G>T (TTN) NP_596869.4:p.Asp29645Tyr
NM_133432.3:c.69817G>T (TTN) NP_597676.3:p.Asp23273Tyr
NM_133437.4:c.70018G>T (TTN) NP_597681.4:p.Asp23340Tyr
NR_038271.1:n.446+19700C>A (TTN-AS1)
NR_038272.1:n.2043+975C>A (TTN-AS1)
XM_011511729.1:c.95734G>T (TTN) XP_011510031.1:p.Asp31912Tyr
XM_011511730.1:c.69628G>T (TTN) XP_011510032.1:p.Asp23210Tyr
XM_011511731.1:c.69487G>T (TTN) XP_011510033.1:p.Asp23163Tyr
XM_017004819.1:c.95530G>T (TTN) XP_016860308.1:p.Asp31844Tyr
XM_017004820.1:c.90928G>T (TTN) XP_016860309.1:p.Asp30310Tyr
XM_017004821.1:c.90925G>T (TTN) XP_016860310.1:p.Asp30309Tyr
XM_017004822.1:c.87967G>T (TTN) XP_016860311.1:p.Asp29323Tyr
XM_017004823.1:c.69583G>T (TTN) XP_016860312.1:p.Asp23195Tyr
XM_024453094.1:c.91078G>T (TTN) XP_024308862.1:p.Asp30360Tyr
XM_024453095.1:c.91075G>T (TTN) XP_024308863.1:p.Asp30359Tyr
XM_024453096.1:c.90508G>T (TTN) XP_024308864.1:p.Asp30170Tyr
XM_024453097.1:c.87850G>T (TTN) XP_024308865.1:p.Asp29284Tyr
XM_024453098.1:c.87769G>T (TTN) XP_024308866.1:p.Asp29257Tyr
XM_024453099.1:c.69532G>T (TTN) XP_024308867.1:p.Asp23178Tyr
XM_024453100.1:c.59386G>T (TTN) XP_024308868.1:p.Asp19796Tyr