Canonical Allele Identifier: CA349445937

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178543287T>C , CM000664.2:g.178543287T>C GRCh38
NC_000002.11:g.179408014T>C , CM000664.1:g.179408014T>C GRCh37
NC_000002.10:g.179116260T>C NCBI36
NG_011618.3:g.292516A>G , LRG_391:g.292516A>G
NG_051363.1:g.25461T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88982A>G (TTN) ENSP00000343764.6:p.Asp29661Gly
ENST00000342175.11:c.70067A>G (TTN) ENSP00000340554.6:p.Asp23356Gly
ENST00000359218.10:c.69866A>G (TTN) ENSP00000352154.5:p.Asp23289Gly
ENST00000342175.10:c.70067A>G (TTN) ENSP00000340554.6:p.Asp23356Gly
ENST00000342992.10:c.88982A>G (TTN) ENSP00000343764.6:p.Asp29661Gly
ENST00000359218.9:c.69866A>G (TTN) ENSP00000352154.5:p.Asp23289Gly
ENST00000460472.6:c.69491A>G (TTN) ENSP00000434586.1:p.Asp23164Gly
ENST00000589042.5:c.96686A>G (TTN) MANE Select ENSP00000467141.1:p.Asp32229Gly
ENST00000591111.5:c.91763A>G (TTN) ENSP00000465570.1:p.Asp30588Gly
ENST00000615779.4:c.91763A>G (TTN) ENSP00000483597.1:p.Asp30588Gly
NM_001256850.1:c.91763A>G (TTN) NP_001243779.1:p.Asp30588Gly
NM_001267550.2:c.96686A>G (TTN) MANE Select NP_001254479.2:p.Asp32229Gly
NM_003319.4:c.69491A>G (TTN) NP_003310.4:p.Asp23164Gly
NM_133378.4:c.88982A>G (TTN) NP_596869.4:p.Asp29661Gly
NM_133432.3:c.69866A>G (TTN) NP_597676.3:p.Asp23289Gly
NM_133437.4:c.70067A>G (TTN) NP_597681.4:p.Asp23356Gly
NR_038271.1:n.446+19651T>C (TTN-AS1)
NR_038272.1:n.2043+926T>C (TTN-AS1)
XM_011511729.1:c.95783A>G (TTN) XP_011510031.1:p.Asp31928Gly
XM_011511730.1:c.69677A>G (TTN) XP_011510032.1:p.Asp23226Gly
XM_011511731.1:c.69536A>G (TTN) XP_011510033.1:p.Asp23179Gly
XM_017004819.1:c.95579A>G (TTN) XP_016860308.1:p.Asp31860Gly
XM_017004820.1:c.90977A>G (TTN) XP_016860309.1:p.Asp30326Gly
XM_017004821.1:c.90974A>G (TTN) XP_016860310.1:p.Asp30325Gly
XM_017004822.1:c.88016A>G (TTN) XP_016860311.1:p.Asp29339Gly
XM_017004823.1:c.69632A>G (TTN) XP_016860312.1:p.Asp23211Gly
XM_024453094.1:c.91127A>G (TTN) XP_024308862.1:p.Asp30376Gly
XM_024453095.1:c.91124A>G (TTN) XP_024308863.1:p.Asp30375Gly
XM_024453096.1:c.90557A>G (TTN) XP_024308864.1:p.Asp30186Gly
XM_024453097.1:c.87899A>G (TTN) XP_024308865.1:p.Asp29300Gly
XM_024453098.1:c.87818A>G (TTN) XP_024308866.1:p.Asp29273Gly
XM_024453099.1:c.69581A>G (TTN) XP_024308867.1:p.Asp23194Gly
XM_024453100.1:c.59435A>G (TTN) XP_024308868.1:p.Asp19812Gly