Canonical Allele Identifier: CA349411739

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532180A>C , CM000664.2:g.178532180A>C GRCh38
NC_000002.11:g.179396907A>C , CM000664.1:g.179396907A>C GRCh37
NC_000002.10:g.179105153A>C NCBI36
NG_011618.3:g.303623T>G , LRG_391:g.303623T>G
NG_051363.1:g.14354A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96731T>G (TTN) ENSP00000343764.6:p.Ile32244Arg
ENST00000342175.11:c.77816T>G (TTN) ENSP00000340554.6:p.Ile25939Arg
ENST00000359218.10:c.77615T>G (TTN) ENSP00000352154.5:p.Ile25872Arg
ENST00000342175.10:c.77816T>G (TTN) ENSP00000340554.6:p.Ile25939Arg
ENST00000342992.10:c.96731T>G (TTN) ENSP00000343764.6:p.Ile32244Arg
ENST00000359218.9:c.77615T>G (TTN) ENSP00000352154.5:p.Ile25872Arg
ENST00000460472.6:c.77240T>G (TTN) ENSP00000434586.1:p.Ile25747Arg
ENST00000589042.5:c.104435T>G (TTN) MANE Select ENSP00000467141.1:p.Ile34812Arg
ENST00000591111.5:c.99512T>G (TTN) ENSP00000465570.1:p.Ile33171Arg
ENST00000615779.4:c.99512T>G (TTN) ENSP00000483597.1:p.Ile33171Arg
NM_001256850.1:c.99512T>G (TTN) NP_001243779.1:p.Ile33171Arg
NM_001267550.2:c.104435T>G (TTN) MANE Select NP_001254479.2:p.Ile34812Arg
NM_003319.4:c.77240T>G (TTN) NP_003310.4:p.Ile25747Arg
NM_133378.4:c.96731T>G (TTN) NP_596869.4:p.Ile32244Arg
NM_133432.3:c.77615T>G (TTN) NP_597676.3:p.Ile25872Arg
NM_133437.4:c.77816T>G (TTN) NP_597681.4:p.Ile25939Arg
NR_038271.1:n.446+8544A>C (TTN-AS1)
NR_038272.1:n.220-3552A>C (TTN-AS1)
XM_011511729.1:c.103532T>G (TTN) XP_011510031.1:p.Ile34511Arg
XM_011511730.1:c.77426T>G (TTN) XP_011510032.1:p.Ile25809Arg
XM_011511731.1:c.77285T>G (TTN) XP_011510033.1:p.Ile25762Arg
XM_017004819.1:c.103328T>G (TTN) XP_016860308.1:p.Ile34443Arg
XM_017004820.1:c.98726T>G (TTN) XP_016860309.1:p.Ile32909Arg
XM_017004821.1:c.98723T>G (TTN) XP_016860310.1:p.Ile32908Arg
XM_017004822.1:c.95765T>G (TTN) XP_016860311.1:p.Ile31922Arg
XM_017004823.1:c.77381T>G (TTN) XP_016860312.1:p.Ile25794Arg
XM_024453094.1:c.98876T>G (TTN) XP_024308862.1:p.Ile32959Arg
XM_024453095.1:c.98873T>G (TTN) XP_024308863.1:p.Ile32958Arg
XM_024453096.1:c.98306T>G (TTN) XP_024308864.1:p.Ile32769Arg
XM_024453097.1:c.95648T>G (TTN) XP_024308865.1:p.Ile31883Arg
XM_024453098.1:c.95567T>G (TTN) XP_024308866.1:p.Ile31856Arg
XM_024453099.1:c.77330T>G (TTN) XP_024308867.1:p.Ile25777Arg
XM_024453100.1:c.67184T>G (TTN) XP_024308868.1:p.Ile22395Arg