Canonical Allele Identifier: CA349407042

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530519C>G , CM000664.2:g.178530519C>G GRCh38
NC_000002.11:g.179395246C>G , CM000664.1:g.179395246C>G GRCh37
NC_000002.10:g.179103492C>G NCBI36
NG_011618.3:g.305284G>C , LRG_391:g.305284G>C
NG_051363.1:g.12693C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98392G>C (TTN) ENSP00000343764.6:p.Gly32798Arg
ENST00000342175.11:c.79477G>C (TTN) ENSP00000340554.6:p.Gly26493Arg
ENST00000359218.10:c.79276G>C (TTN) ENSP00000352154.5:p.Gly26426Arg
ENST00000342175.10:c.79477G>C (TTN) ENSP00000340554.6:p.Gly26493Arg
ENST00000342992.10:c.98392G>C (TTN) ENSP00000343764.6:p.Gly32798Arg
ENST00000359218.9:c.79276G>C (TTN) ENSP00000352154.5:p.Gly26426Arg
ENST00000460472.6:c.78901G>C (TTN) ENSP00000434586.1:p.Gly26301Arg
ENST00000589042.5:c.106096G>C (TTN) MANE Select ENSP00000467141.1:p.Gly35366Arg
ENST00000591111.5:c.101173G>C (TTN) ENSP00000465570.1:p.Gly33725Arg
ENST00000615779.4:c.101173G>C (TTN) ENSP00000483597.1:p.Gly33725Arg
NM_001256850.1:c.101173G>C (TTN) NP_001243779.1:p.Gly33725Arg
NM_001267550.2:c.106096G>C (TTN) MANE Select NP_001254479.2:p.Gly35366Arg
NM_003319.4:c.78901G>C (TTN) NP_003310.4:p.Gly26301Arg
NM_133378.4:c.98392G>C (TTN) NP_596869.4:p.Gly32798Arg
NM_133432.3:c.79276G>C (TTN) NP_597676.3:p.Gly26426Arg
NM_133437.4:c.79477G>C (TTN) NP_597681.4:p.Gly26493Arg
NR_038271.1:n.446+6883C>G (TTN-AS1)
NR_038272.1:n.220-5213C>G (TTN-AS1)
XM_011511729.1:c.105193G>C (TTN) XP_011510031.1:p.Gly35065Arg
XM_011511730.1:c.79087G>C (TTN) XP_011510032.1:p.Gly26363Arg
XM_011511731.1:c.78946G>C (TTN) XP_011510033.1:p.Gly26316Arg
XM_017004819.1:c.104989G>C (TTN) XP_016860308.1:p.Gly34997Arg
XM_017004820.1:c.100387G>C (TTN) XP_016860309.1:p.Gly33463Arg
XM_017004821.1:c.100384G>C (TTN) XP_016860310.1:p.Gly33462Arg
XM_017004822.1:c.97426G>C (TTN) XP_016860311.1:p.Gly32476Arg
XM_017004823.1:c.79042G>C (TTN) XP_016860312.1:p.Gly26348Arg
XM_024453094.1:c.100537G>C (TTN) XP_024308862.1:p.Gly33513Arg
XM_024453095.1:c.100534G>C (TTN) XP_024308863.1:p.Gly33512Arg
XM_024453096.1:c.99967G>C (TTN) XP_024308864.1:p.Gly33323Arg
XM_024453097.1:c.97309G>C (TTN) XP_024308865.1:p.Gly32437Arg
XM_024453098.1:c.97228G>C (TTN) XP_024308866.1:p.Gly32410Arg
XM_024453099.1:c.78991G>C (TTN) XP_024308867.1:p.Gly26331Arg
XM_024453100.1:c.68845G>C (TTN) XP_024308868.1:p.Gly22949Arg