Canonical Allele Identifier: CA349398172

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178527031A>C , CM000664.2:g.178527031A>C GRCh38
NC_000002.11:g.179391758A>C , CM000664.1:g.179391758A>C GRCh37
NC_000002.10:g.179100004A>C NCBI36
NG_011618.3:g.308772T>G , LRG_391:g.308772T>G
NG_051363.1:g.9205A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.100253T>G (TTN) ENSP00000343764.6:p.Ile33418Arg
ENST00000342175.11:c.81338T>G (TTN) ENSP00000340554.6:p.Ile27113Arg
ENST00000359218.10:c.81137T>G (TTN) ENSP00000352154.5:p.Ile27046Arg
ENST00000342175.10:c.81338T>G (TTN) ENSP00000340554.6:p.Ile27113Arg
ENST00000342992.10:c.100253T>G (TTN) ENSP00000343764.6:p.Ile33418Arg
ENST00000359218.9:c.81137T>G (TTN) ENSP00000352154.5:p.Ile27046Arg
ENST00000460472.6:c.80762T>G (TTN) ENSP00000434586.1:p.Ile26921Arg
ENST00000589042.5:c.107957T>G (TTN) MANE Select ENSP00000467141.1:p.Ile35986Arg
ENST00000591111.5:c.103034T>G (TTN) ENSP00000465570.1:p.Ile34345Arg
ENST00000615779.4:c.103034T>G (TTN) ENSP00000483597.1:p.Ile34345Arg
NM_001256850.1:c.103034T>G (TTN) NP_001243779.1:p.Ile34345Arg
NM_001267550.2:c.107957T>G (TTN) MANE Select NP_001254479.2:p.Ile35986Arg
NM_003319.4:c.80762T>G (TTN) NP_003310.4:p.Ile26921Arg
NM_133378.4:c.100253T>G (TTN) NP_596869.4:p.Ile33418Arg
NM_133432.3:c.81137T>G (TTN) NP_597676.3:p.Ile27046Arg
NM_133437.4:c.81338T>G (TTN) NP_597681.4:p.Ile27113Arg
NR_038271.1:n.446+3395A>C (TTN-AS1)
NR_038272.1:n.219+3395A>C (TTN-AS1)
XM_011511729.1:c.107054T>G (TTN) XP_011510031.1:p.Ile35685Arg
XM_011511730.1:c.80948T>G (TTN) XP_011510032.1:p.Ile26983Arg
XM_011511731.1:c.80807T>G (TTN) XP_011510033.1:p.Ile26936Arg
XM_017004819.1:c.106850T>G (TTN) XP_016860308.1:p.Ile35617Arg
XM_017004820.1:c.102248T>G (TTN) XP_016860309.1:p.Ile34083Arg
XM_017004821.1:c.102245T>G (TTN) XP_016860310.1:p.Ile34082Arg
XM_017004822.1:c.99287T>G (TTN) XP_016860311.1:p.Ile33096Arg
XM_017004823.1:c.80903T>G (TTN) XP_016860312.1:p.Ile26968Arg
XM_024453094.1:c.102398T>G (TTN) XP_024308862.1:p.Ile34133Arg
XM_024453095.1:c.102395T>G (TTN) XP_024308863.1:p.Ile34132Arg
XM_024453096.1:c.101828T>G (TTN) XP_024308864.1:p.Ile33943Arg
XM_024453097.1:c.99170T>G (TTN) XP_024308865.1:p.Ile33057Arg
XM_024453098.1:c.99089T>G (TTN) XP_024308866.1:p.Ile33030Arg
XM_024453099.1:c.80852T>G (TTN) XP_024308867.1:p.Ile26951Arg
XM_024453100.1:c.70706T>G (TTN) XP_024308868.1:p.Ile23569Arg