Canonical Allele Identifier: CA349406057

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530287G>T , CM000664.2:g.178530287G>T GRCh38
NC_000002.11:g.179395014G>T , CM000664.1:g.179395014G>T GRCh37
NC_000002.10:g.179103260G>T NCBI36
NG_011618.3:g.305516C>A , LRG_391:g.305516C>A
NG_051363.1:g.12461G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98624C>A (TTN) ENSP00000343764.6:p.Ala32875Asp
ENST00000342175.11:c.79709C>A (TTN) ENSP00000340554.6:p.Ala26570Asp
ENST00000359218.10:c.79508C>A (TTN) ENSP00000352154.5:p.Ala26503Asp
ENST00000342175.10:c.79709C>A (TTN) ENSP00000340554.6:p.Ala26570Asp
ENST00000342992.10:c.98624C>A (TTN) ENSP00000343764.6:p.Ala32875Asp
ENST00000359218.9:c.79508C>A (TTN) ENSP00000352154.5:p.Ala26503Asp
ENST00000460472.6:c.79133C>A (TTN) ENSP00000434586.1:p.Ala26378Asp
ENST00000589042.5:c.106328C>A (TTN) MANE Select ENSP00000467141.1:p.Ala35443Asp
ENST00000591111.5:c.101405C>A (TTN) ENSP00000465570.1:p.Ala33802Asp
ENST00000615779.4:c.101405C>A (TTN) ENSP00000483597.1:p.Ala33802Asp
NM_001256850.1:c.101405C>A (TTN) NP_001243779.1:p.Ala33802Asp
NM_001267550.2:c.106328C>A (TTN) MANE Select NP_001254479.2:p.Ala35443Asp
NM_003319.4:c.79133C>A (TTN) NP_003310.4:p.Ala26378Asp
NM_133378.4:c.98624C>A (TTN) NP_596869.4:p.Ala32875Asp
NM_133432.3:c.79508C>A (TTN) NP_597676.3:p.Ala26503Asp
NM_133437.4:c.79709C>A (TTN) NP_597681.4:p.Ala26570Asp
NR_038271.1:n.446+6651G>T (TTN-AS1)
NR_038272.1:n.220-5445G>T (TTN-AS1)
XM_011511729.1:c.105425C>A (TTN) XP_011510031.1:p.Ala35142Asp
XM_011511730.1:c.79319C>A (TTN) XP_011510032.1:p.Ala26440Asp
XM_011511731.1:c.79178C>A (TTN) XP_011510033.1:p.Ala26393Asp
XM_017004819.1:c.105221C>A (TTN) XP_016860308.1:p.Ala35074Asp
XM_017004820.1:c.100619C>A (TTN) XP_016860309.1:p.Ala33540Asp
XM_017004821.1:c.100616C>A (TTN) XP_016860310.1:p.Ala33539Asp
XM_017004822.1:c.97658C>A (TTN) XP_016860311.1:p.Ala32553Asp
XM_017004823.1:c.79274C>A (TTN) XP_016860312.1:p.Ala26425Asp
XM_024453094.1:c.100769C>A (TTN) XP_024308862.1:p.Ala33590Asp
XM_024453095.1:c.100766C>A (TTN) XP_024308863.1:p.Ala33589Asp
XM_024453096.1:c.100199C>A (TTN) XP_024308864.1:p.Ala33400Asp
XM_024453097.1:c.97541C>A (TTN) XP_024308865.1:p.Ala32514Asp
XM_024453098.1:c.97460C>A (TTN) XP_024308866.1:p.Ala32487Asp
XM_024453099.1:c.79223C>A (TTN) XP_024308867.1:p.Ala26408Asp
XM_024453100.1:c.69077C>A (TTN) XP_024308868.1:p.Ala23026Asp