Canonical Allele Identifier: CA349456017

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544309C>A , CM000664.2:g.178544309C>A GRCh38
NC_000002.11:g.179409036C>A , CM000664.1:g.179409036C>A GRCh37
NC_000002.10:g.179117282C>A NCBI36
NG_011618.3:g.291494G>T , LRG_391:g.291494G>T
NG_051363.1:g.26483C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.88216G>T (TTN) ENSP00000343764.6:p.Asp29406Tyr
ENST00000342175.11:c.69301G>T (TTN) ENSP00000340554.6:p.Asp23101Tyr
ENST00000359218.10:c.69100G>T (TTN) ENSP00000352154.5:p.Asp23034Tyr
ENST00000342175.10:c.69301G>T (TTN) ENSP00000340554.6:p.Asp23101Tyr
ENST00000342992.10:c.88216G>T (TTN) ENSP00000343764.6:p.Asp29406Tyr
ENST00000359218.9:c.69100G>T (TTN) ENSP00000352154.5:p.Asp23034Tyr
ENST00000460472.6:c.68725G>T (TTN) ENSP00000434586.1:p.Asp22909Tyr
ENST00000589042.5:c.95920G>T (TTN) MANE Select ENSP00000467141.1:p.Asp31974Tyr
ENST00000591111.5:c.90997G>T (TTN) ENSP00000465570.1:p.Asp30333Tyr
ENST00000615779.4:c.90997G>T (TTN) ENSP00000483597.1:p.Asp30333Tyr
NM_001256850.1:c.90997G>T (TTN) NP_001243779.1:p.Asp30333Tyr
NM_001267550.2:c.95920G>T (TTN) MANE Select NP_001254479.2:p.Asp31974Tyr
NM_003319.4:c.68725G>T (TTN) NP_003310.4:p.Asp22909Tyr
NM_133378.4:c.88216G>T (TTN) NP_596869.4:p.Asp29406Tyr
NM_133432.3:c.69100G>T (TTN) NP_597676.3:p.Asp23034Tyr
NM_133437.4:c.69301G>T (TTN) NP_597681.4:p.Asp23101Tyr
NR_038271.1:n.446+20673C>A (TTN-AS1)
NR_038272.1:n.2043+1948C>A (TTN-AS1)
XM_011511729.1:c.95017G>T (TTN) XP_011510031.1:p.Asp31673Tyr
XM_011511730.1:c.68911G>T (TTN) XP_011510032.1:p.Asp22971Tyr
XM_011511731.1:c.68770G>T (TTN) XP_011510033.1:p.Asp22924Tyr
XM_017004819.1:c.94813G>T (TTN) XP_016860308.1:p.Asp31605Tyr
XM_017004820.1:c.90211G>T (TTN) XP_016860309.1:p.Asp30071Tyr
XM_017004821.1:c.90208G>T (TTN) XP_016860310.1:p.Asp30070Tyr
XM_017004822.1:c.87250G>T (TTN) XP_016860311.1:p.Asp29084Tyr
XM_017004823.1:c.68866G>T (TTN) XP_016860312.1:p.Asp22956Tyr
XM_024453094.1:c.90361G>T (TTN) XP_024308862.1:p.Asp30121Tyr
XM_024453095.1:c.90358G>T (TTN) XP_024308863.1:p.Asp30120Tyr
XM_024453096.1:c.89791G>T (TTN) XP_024308864.1:p.Asp29931Tyr
XM_024453097.1:c.87133G>T (TTN) XP_024308865.1:p.Asp29045Tyr
XM_024453098.1:c.87052G>T (TTN) XP_024308866.1:p.Asp29018Tyr
XM_024453099.1:c.68815G>T (TTN) XP_024308867.1:p.Asp22939Tyr
XM_024453100.1:c.58669G>T (TTN) XP_024308868.1:p.Asp19557Tyr