Canonical Allele Identifier: CA349411882

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532243T>A , CM000664.2:g.178532243T>A GRCh38
NC_000002.11:g.179396970T>A , CM000664.1:g.179396970T>A GRCh37
NC_000002.10:g.179105216T>A NCBI36
NG_011618.3:g.303560A>T , LRG_391:g.303560A>T
NG_051363.1:g.14417T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96668A>T (TTN) ENSP00000343764.6:p.Asp32223Val
ENST00000342175.11:c.77753A>T (TTN) ENSP00000340554.6:p.Asp25918Val
ENST00000359218.10:c.77552A>T (TTN) ENSP00000352154.5:p.Asp25851Val
ENST00000342175.10:c.77753A>T (TTN) ENSP00000340554.6:p.Asp25918Val
ENST00000342992.10:c.96668A>T (TTN) ENSP00000343764.6:p.Asp32223Val
ENST00000359218.9:c.77552A>T (TTN) ENSP00000352154.5:p.Asp25851Val
ENST00000460472.6:c.77177A>T (TTN) ENSP00000434586.1:p.Asp25726Val
ENST00000589042.5:c.104372A>T (TTN) MANE Select ENSP00000467141.1:p.Asp34791Val
ENST00000591111.5:c.99449A>T (TTN) ENSP00000465570.1:p.Asp33150Val
ENST00000615779.4:c.99449A>T (TTN) ENSP00000483597.1:p.Asp33150Val
NM_001256850.1:c.99449A>T (TTN) NP_001243779.1:p.Asp33150Val
NM_001267550.2:c.104372A>T (TTN) MANE Select NP_001254479.2:p.Asp34791Val
NM_003319.4:c.77177A>T (TTN) NP_003310.4:p.Asp25726Val
NM_133378.4:c.96668A>T (TTN) NP_596869.4:p.Asp32223Val
NM_133432.3:c.77552A>T (TTN) NP_597676.3:p.Asp25851Val
NM_133437.4:c.77753A>T (TTN) NP_597681.4:p.Asp25918Val
NR_038271.1:n.446+8607T>A (TTN-AS1)
NR_038272.1:n.220-3489T>A (TTN-AS1)
XM_011511729.1:c.103469A>T (TTN) XP_011510031.1:p.Asp34490Val
XM_011511730.1:c.77363A>T (TTN) XP_011510032.1:p.Asp25788Val
XM_011511731.1:c.77222A>T (TTN) XP_011510033.1:p.Asp25741Val
XM_017004819.1:c.103265A>T (TTN) XP_016860308.1:p.Asp34422Val
XM_017004820.1:c.98663A>T (TTN) XP_016860309.1:p.Asp32888Val
XM_017004821.1:c.98660A>T (TTN) XP_016860310.1:p.Asp32887Val
XM_017004822.1:c.95702A>T (TTN) XP_016860311.1:p.Asp31901Val
XM_017004823.1:c.77318A>T (TTN) XP_016860312.1:p.Asp25773Val
XM_024453094.1:c.98813A>T (TTN) XP_024308862.1:p.Asp32938Val
XM_024453095.1:c.98810A>T (TTN) XP_024308863.1:p.Asp32937Val
XM_024453096.1:c.98243A>T (TTN) XP_024308864.1:p.Asp32748Val
XM_024453097.1:c.95585A>T (TTN) XP_024308865.1:p.Asp31862Val
XM_024453098.1:c.95504A>T (TTN) XP_024308866.1:p.Asp31835Val
XM_024453099.1:c.77267A>T (TTN) XP_024308867.1:p.Asp25756Val
XM_024453100.1:c.67121A>T (TTN) XP_024308868.1:p.Asp22374Val