Canonical Allele Identifier: CA349411781

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532199G>A , CM000664.2:g.178532199G>A GRCh38
NC_000002.11:g.179396926G>A , CM000664.1:g.179396926G>A GRCh37
NC_000002.10:g.179105172G>A NCBI36
NG_011618.3:g.303604C>T , LRG_391:g.303604C>T
NG_051363.1:g.14373G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96712C>T (TTN) ENSP00000343764.6:p.Gln32238Ter
ENST00000342175.11:c.77797C>T (TTN) ENSP00000340554.6:p.Gln25933Ter
ENST00000359218.10:c.77596C>T (TTN) ENSP00000352154.5:p.Gln25866Ter
ENST00000342175.10:c.77797C>T (TTN) ENSP00000340554.6:p.Gln25933Ter
ENST00000342992.10:c.96712C>T (TTN) ENSP00000343764.6:p.Gln32238Ter
ENST00000359218.9:c.77596C>T (TTN) ENSP00000352154.5:p.Gln25866Ter
ENST00000460472.6:c.77221C>T (TTN) ENSP00000434586.1:p.Gln25741Ter
ENST00000589042.5:c.104416C>T (TTN) MANE Select ENSP00000467141.1:p.Gln34806Ter
ENST00000591111.5:c.99493C>T (TTN) ENSP00000465570.1:p.Gln33165Ter
ENST00000615779.4:c.99493C>T (TTN) ENSP00000483597.1:p.Gln33165Ter
NM_001256850.1:c.99493C>T (TTN) NP_001243779.1:p.Gln33165Ter
NM_001267550.2:c.104416C>T (TTN) MANE Select NP_001254479.2:p.Gln34806Ter
NM_003319.4:c.77221C>T (TTN) NP_003310.4:p.Gln25741Ter
NM_133378.4:c.96712C>T (TTN) NP_596869.4:p.Gln32238Ter
NM_133432.3:c.77596C>T (TTN) NP_597676.3:p.Gln25866Ter
NM_133437.4:c.77797C>T (TTN) NP_597681.4:p.Gln25933Ter
NR_038271.1:n.446+8563G>A (TTN-AS1)
NR_038272.1:n.220-3533G>A (TTN-AS1)
XM_011511729.1:c.103513C>T (TTN) XP_011510031.1:p.Gln34505Ter
XM_011511730.1:c.77407C>T (TTN) XP_011510032.1:p.Gln25803Ter
XM_011511731.1:c.77266C>T (TTN) XP_011510033.1:p.Gln25756Ter
XM_017004819.1:c.103309C>T (TTN) XP_016860308.1:p.Gln34437Ter
XM_017004820.1:c.98707C>T (TTN) XP_016860309.1:p.Gln32903Ter
XM_017004821.1:c.98704C>T (TTN) XP_016860310.1:p.Gln32902Ter
XM_017004822.1:c.95746C>T (TTN) XP_016860311.1:p.Gln31916Ter
XM_017004823.1:c.77362C>T (TTN) XP_016860312.1:p.Gln25788Ter
XM_024453094.1:c.98857C>T (TTN) XP_024308862.1:p.Gln32953Ter
XM_024453095.1:c.98854C>T (TTN) XP_024308863.1:p.Gln32952Ter
XM_024453096.1:c.98287C>T (TTN) XP_024308864.1:p.Gln32763Ter
XM_024453097.1:c.95629C>T (TTN) XP_024308865.1:p.Gln31877Ter
XM_024453098.1:c.95548C>T (TTN) XP_024308866.1:p.Gln31850Ter
XM_024453099.1:c.77311C>T (TTN) XP_024308867.1:p.Gln25771Ter
XM_024453100.1:c.67165C>T (TTN) XP_024308868.1:p.Gln22389Ter