Canonical Allele Identifier: CA349541218

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178601550G>T , CM000664.2:g.178601550G>T GRCh38
NC_000002.11:g.179466277G>T , CM000664.1:g.179466277G>T GRCh37
NC_000002.10:g.179174522G>T NCBI36
NG_011618.3:g.234253C>A , LRG_391:g.234253C>A
NG_051363.1:g.83724G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.47743C>A (TTN) ENSP00000343764.6:p.Pro15915Thr
ENST00000342175.11:c.28828C>A (TTN) ENSP00000340554.6:p.Pro9610Thr
ENST00000359218.10:c.28627C>A (TTN) ENSP00000352154.5:p.Pro9543Thr
ENST00000342175.10:c.28828C>A (TTN) ENSP00000340554.6:p.Pro9610Thr
ENST00000342992.10:c.47743C>A (TTN) ENSP00000343764.6:p.Pro15915Thr
ENST00000359218.9:c.28627C>A (TTN) ENSP00000352154.5:p.Pro9543Thr
ENST00000460472.6:c.28252C>A (TTN) ENSP00000434586.1:p.Pro9418Thr
ENST00000589042.5:c.55447C>A (TTN) MANE Select ENSP00000467141.1:p.Pro18483Thr
ENST00000591111.5:c.50524C>A (TTN) ENSP00000465570.1:p.Pro16842Thr
ENST00000615779.4:c.50524C>A (TTN) ENSP00000483597.1:p.Pro16842Thr
NM_001256850.1:c.50524C>A (TTN) NP_001243779.1:p.Pro16842Thr
NM_001267550.2:c.55447C>A (TTN) MANE Select NP_001254479.2:p.Pro18483Thr
NM_003319.4:c.28252C>A (TTN) NP_003310.4:p.Pro9418Thr
NM_133378.4:c.47743C>A (TTN) NP_596869.4:p.Pro15915Thr
NM_133432.3:c.28627C>A (TTN) NP_597676.3:p.Pro9543Thr
NM_133437.4:c.28828C>A (TTN) NP_597681.4:p.Pro9610Thr
NR_038271.1:n.682+3869G>T (TTN-AS1)
NR_038272.1:n.3917+883G>T (TTN-AS1)
XM_011511729.1:c.54544C>A (TTN) XP_011510031.1:p.Pro18182Thr
XM_011511730.1:c.28438C>A (TTN) XP_011510032.1:p.Pro9480Thr
XM_011511731.1:c.28297C>A (TTN) XP_011510033.1:p.Pro9433Thr
XM_017004819.1:c.54340C>A (TTN) XP_016860308.1:p.Pro18114Thr
XM_017004820.1:c.49738C>A (TTN) XP_016860309.1:p.Pro16580Thr
XM_017004821.1:c.49735C>A (TTN) XP_016860310.1:p.Pro16579Thr
XM_017004822.1:c.46777C>A (TTN) XP_016860311.1:p.Pro15593Thr
XM_017004823.1:c.28393C>A (TTN) XP_016860312.1:p.Pro9465Thr
XM_024453094.1:c.49888C>A (TTN) XP_024308862.1:p.Pro16630Thr
XM_024453095.1:c.49885C>A (TTN) XP_024308863.1:p.Pro16629Thr
XM_024453096.1:c.49318C>A (TTN) XP_024308864.1:p.Pro16440Thr
XM_024453097.1:c.46660C>A (TTN) XP_024308865.1:p.Pro15554Thr
XM_024453098.1:c.46579C>A (TTN) XP_024308866.1:p.Pro15527Thr
XM_024453099.1:c.28342C>A (TTN) XP_024308867.1:p.Pro9448Thr
XM_024453100.1:c.18196C>A (TTN) XP_024308868.1:p.Pro6066Thr