Canonical Allele Identifier: CA349454223

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544091T>C , CM000664.2:g.178544091T>C GRCh38
NC_000002.11:g.179408818T>C , CM000664.1:g.179408818T>C GRCh37
NC_000002.10:g.179117064T>C NCBI36
NG_011618.3:g.291712A>G , LRG_391:g.291712A>G
NG_051363.1:g.26265T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88349A>G (TTN) ENSP00000343764.6:p.Asp29450Gly
ENST00000342175.11:c.69434A>G (TTN) ENSP00000340554.6:p.Asp23145Gly
ENST00000359218.10:c.69233A>G (TTN) ENSP00000352154.5:p.Asp23078Gly
ENST00000342175.10:c.69434A>G (TTN) ENSP00000340554.6:p.Asp23145Gly
ENST00000342992.10:c.88349A>G (TTN) ENSP00000343764.6:p.Asp29450Gly
ENST00000359218.9:c.69233A>G (TTN) ENSP00000352154.5:p.Asp23078Gly
ENST00000460472.6:c.68858A>G (TTN) ENSP00000434586.1:p.Asp22953Gly
ENST00000589042.5:c.96053A>G (TTN) MANE Select ENSP00000467141.1:p.Asp32018Gly
ENST00000591111.5:c.91130A>G (TTN) ENSP00000465570.1:p.Asp30377Gly
ENST00000615779.4:c.91130A>G (TTN) ENSP00000483597.1:p.Asp30377Gly
NM_001256850.1:c.91130A>G (TTN) NP_001243779.1:p.Asp30377Gly
NM_001267550.2:c.96053A>G (TTN) MANE Select NP_001254479.2:p.Asp32018Gly
NM_003319.4:c.68858A>G (TTN) NP_003310.4:p.Asp22953Gly
NM_133378.4:c.88349A>G (TTN) NP_596869.4:p.Asp29450Gly
NM_133432.3:c.69233A>G (TTN) NP_597676.3:p.Asp23078Gly
NM_133437.4:c.69434A>G (TTN) NP_597681.4:p.Asp23145Gly
NR_038271.1:n.446+20455T>C (TTN-AS1)
NR_038272.1:n.2043+1730T>C (TTN-AS1)
XM_011511729.1:c.95150A>G (TTN) XP_011510031.1:p.Asp31717Gly
XM_011511730.1:c.69044A>G (TTN) XP_011510032.1:p.Asp23015Gly
XM_011511731.1:c.68903A>G (TTN) XP_011510033.1:p.Asp22968Gly
XM_017004819.1:c.94946A>G (TTN) XP_016860308.1:p.Asp31649Gly
XM_017004820.1:c.90344A>G (TTN) XP_016860309.1:p.Asp30115Gly
XM_017004821.1:c.90341A>G (TTN) XP_016860310.1:p.Asp30114Gly
XM_017004822.1:c.87383A>G (TTN) XP_016860311.1:p.Asp29128Gly
XM_017004823.1:c.68999A>G (TTN) XP_016860312.1:p.Asp23000Gly
XM_024453094.1:c.90494A>G (TTN) XP_024308862.1:p.Asp30165Gly
XM_024453095.1:c.90491A>G (TTN) XP_024308863.1:p.Asp30164Gly
XM_024453096.1:c.89924A>G (TTN) XP_024308864.1:p.Asp29975Gly
XM_024453097.1:c.87266A>G (TTN) XP_024308865.1:p.Asp29089Gly
XM_024453098.1:c.87185A>G (TTN) XP_024308866.1:p.Asp29062Gly
XM_024453099.1:c.68948A>G (TTN) XP_024308867.1:p.Asp22983Gly
XM_024453100.1:c.58802A>G (TTN) XP_024308868.1:p.Asp19601Gly