Canonical Allele Identifier: CA349496371

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178549857T>G , CM000664.2:g.178549857T>G GRCh38
NC_000002.11:g.179414584T>G , CM000664.1:g.179414584T>G GRCh37
NC_000002.10:g.179122830T>G NCBI36
NG_011618.3:g.285946A>C , LRG_391:g.285946A>C
NG_051363.1:g.32031T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.84161A>C (TTN) ENSP00000343764.6:p.Lys28054Thr
ENST00000342175.11:c.65246A>C (TTN) ENSP00000340554.6:p.Lys21749Thr
ENST00000359218.10:c.65045A>C (TTN) ENSP00000352154.5:p.Lys21682Thr
ENST00000342175.10:c.65246A>C (TTN) ENSP00000340554.6:p.Lys21749Thr
ENST00000342992.10:c.84161A>C (TTN) ENSP00000343764.6:p.Lys28054Thr
ENST00000359218.9:c.65045A>C (TTN) ENSP00000352154.5:p.Lys21682Thr
ENST00000460472.6:c.64670A>C (TTN) ENSP00000434586.1:p.Lys21557Thr
ENST00000589042.5:c.91865A>C (TTN) MANE Select ENSP00000467141.1:p.Lys30622Thr
ENST00000591111.5:c.86942A>C (TTN) ENSP00000465570.1:p.Lys28981Thr
ENST00000615779.4:c.86942A>C (TTN) ENSP00000483597.1:p.Lys28981Thr
NM_001256850.1:c.86942A>C (TTN) NP_001243779.1:p.Lys28981Thr
NM_001267550.2:c.91865A>C (TTN) MANE Select NP_001254479.2:p.Lys30622Thr
NM_003319.4:c.64670A>C (TTN) NP_003310.4:p.Lys21557Thr
NM_133378.4:c.84161A>C (TTN) NP_596869.4:p.Lys28054Thr
NM_133432.3:c.65045A>C (TTN) NP_597676.3:p.Lys21682Thr
NM_133437.4:c.65246A>C (TTN) NP_597681.4:p.Lys21749Thr
NR_038271.1:n.447-21443T>G (TTN-AS1)
NR_038272.1:n.2043+7496T>G (TTN-AS1)
XM_011511729.1:c.90962A>C (TTN) XP_011510031.1:p.Lys30321Thr
XM_011511730.1:c.64856A>C (TTN) XP_011510032.1:p.Lys21619Thr
XM_011511731.1:c.64715A>C (TTN) XP_011510033.1:p.Lys21572Thr
XM_017004819.1:c.90758A>C (TTN) XP_016860308.1:p.Lys30253Thr
XM_017004820.1:c.86156A>C (TTN) XP_016860309.1:p.Lys28719Thr
XM_017004821.1:c.86153A>C (TTN) XP_016860310.1:p.Lys28718Thr
XM_017004822.1:c.83195A>C (TTN) XP_016860311.1:p.Lys27732Thr
XM_017004823.1:c.64811A>C (TTN) XP_016860312.1:p.Lys21604Thr
XM_024453094.1:c.86306A>C (TTN) XP_024308862.1:p.Lys28769Thr
XM_024453095.1:c.86303A>C (TTN) XP_024308863.1:p.Lys28768Thr
XM_024453096.1:c.85736A>C (TTN) XP_024308864.1:p.Lys28579Thr
XM_024453097.1:c.83078A>C (TTN) XP_024308865.1:p.Lys27693Thr
XM_024453098.1:c.82997A>C (TTN) XP_024308866.1:p.Lys27666Thr
XM_024453099.1:c.64760A>C (TTN) XP_024308867.1:p.Lys21587Thr
XM_024453100.1:c.54614A>C (TTN) XP_024308868.1:p.Lys18205Thr