Canonical Allele Identifier: CA349411783

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96712C>G (TTN) ENSP00000343764.6:p.Gln32238Glu
ENST00000342175.11:c.77797C>G (TTN) ENSP00000340554.6:p.Gln25933Glu
ENST00000359218.10:c.77596C>G (TTN) ENSP00000352154.5:p.Gln25866Glu
ENST00000342175.10:c.77797C>G (TTN) ENSP00000340554.6:p.Gln25933Glu
ENST00000342992.10:c.96712C>G (TTN) ENSP00000343764.6:p.Gln32238Glu
ENST00000359218.9:c.77596C>G (TTN) ENSP00000352154.5:p.Gln25866Glu
ENST00000460472.6:c.77221C>G (TTN) ENSP00000434586.1:p.Gln25741Glu
ENST00000589042.5:c.104416C>G (TTN) MANE Select ENSP00000467141.1:p.Gln34806Glu
ENST00000591111.5:c.99493C>G (TTN) ENSP00000465570.1:p.Gln33165Glu
ENST00000615779.4:c.99493C>G (TTN) ENSP00000483597.1:p.Gln33165Glu
NM_001256850.1:c.99493C>G (TTN) NP_001243779.1:p.Gln33165Glu
NM_001267550.2:c.104416C>G (TTN) MANE Select NP_001254479.2:p.Gln34806Glu
NM_003319.4:c.77221C>G (TTN) NP_003310.4:p.Gln25741Glu
NM_133378.4:c.96712C>G (TTN) NP_596869.4:p.Gln32238Glu
NM_133432.3:c.77596C>G (TTN) NP_597676.3:p.Gln25866Glu
NM_133437.4:c.77797C>G (TTN) NP_597681.4:p.Gln25933Glu
NR_038271.1:n.446+8563G>C (TTN-AS1)
NR_038272.1:n.220-3533G>C (TTN-AS1)
XM_011511729.1:c.103513C>G (TTN) XP_011510031.1:p.Gln34505Glu
XM_011511730.1:c.77407C>G (TTN) XP_011510032.1:p.Gln25803Glu
XM_011511731.1:c.77266C>G (TTN) XP_011510033.1:p.Gln25756Glu
XM_017004819.1:c.103309C>G (TTN) XP_016860308.1:p.Gln34437Glu
XM_017004820.1:c.98707C>G (TTN) XP_016860309.1:p.Gln32903Glu
XM_017004821.1:c.98704C>G (TTN) XP_016860310.1:p.Gln32902Glu
XM_017004822.1:c.95746C>G (TTN) XP_016860311.1:p.Gln31916Glu
XM_017004823.1:c.77362C>G (TTN) XP_016860312.1:p.Gln25788Glu
XM_024453094.1:c.98857C>G (TTN) XP_024308862.1:p.Gln32953Glu
XM_024453095.1:c.98854C>G (TTN) XP_024308863.1:p.Gln32952Glu
XM_024453096.1:c.98287C>G (TTN) XP_024308864.1:p.Gln32763Glu
XM_024453097.1:c.95629C>G (TTN) XP_024308865.1:p.Gln31877Glu
XM_024453098.1:c.95548C>G (TTN) XP_024308866.1:p.Gln31850Glu
XM_024453099.1:c.77311C>G (TTN) XP_024308867.1:p.Gln25771Glu
XM_024453100.1:c.67165C>G (TTN) XP_024308868.1:p.Gln22389Glu