Canonical Allele Identifier: CA349427916

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178537629G>C , CM000664.2:g.178537629G>C GRCh38
NC_000002.11:g.179402356G>C , CM000664.1:g.179402356G>C GRCh37
NC_000002.10:g.179110602G>C NCBI36
NG_011618.3:g.298174C>G , LRG_391:g.298174C>G
NG_051363.1:g.19803G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.91874C>G (TTN) ENSP00000343764.6:p.Thr30625Arg
ENST00000342175.11:c.72959C>G (TTN) ENSP00000340554.6:p.Thr24320Arg
ENST00000359218.10:c.72758C>G (TTN) ENSP00000352154.5:p.Thr24253Arg
ENST00000342175.10:c.72959C>G (TTN) ENSP00000340554.6:p.Thr24320Arg
ENST00000342992.10:c.91874C>G (TTN) ENSP00000343764.6:p.Thr30625Arg
ENST00000359218.9:c.72758C>G (TTN) ENSP00000352154.5:p.Thr24253Arg
ENST00000460472.6:c.72383C>G (TTN) ENSP00000434586.1:p.Thr24128Arg
ENST00000589042.5:c.99578C>G (TTN) MANE Select ENSP00000467141.1:p.Thr33193Arg
ENST00000591111.5:c.94655C>G (TTN) ENSP00000465570.1:p.Thr31552Arg
ENST00000615779.4:c.94655C>G (TTN) ENSP00000483597.1:p.Thr31552Arg
NM_001256850.1:c.94655C>G (TTN) NP_001243779.1:p.Thr31552Arg
NM_001267550.2:c.99578C>G (TTN) MANE Select NP_001254479.2:p.Thr33193Arg
NM_003319.4:c.72383C>G (TTN) NP_003310.4:p.Thr24128Arg
NM_133378.4:c.91874C>G (TTN) NP_596869.4:p.Thr30625Arg
NM_133432.3:c.72758C>G (TTN) NP_597676.3:p.Thr24253Arg
NM_133437.4:c.72959C>G (TTN) NP_597681.4:p.Thr24320Arg
NR_038271.1:n.446+13993G>C (TTN-AS1)
NR_038272.1:n.585G>C (TTN-AS1)
XM_011511729.1:c.98675C>G (TTN) XP_011510031.1:p.Thr32892Arg
XM_011511730.1:c.72569C>G (TTN) XP_011510032.1:p.Thr24190Arg
XM_011511731.1:c.72428C>G (TTN) XP_011510033.1:p.Thr24143Arg
XM_017004819.1:c.98471C>G (TTN) XP_016860308.1:p.Thr32824Arg
XM_017004820.1:c.93869C>G (TTN) XP_016860309.1:p.Thr31290Arg
XM_017004821.1:c.93866C>G (TTN) XP_016860310.1:p.Thr31289Arg
XM_017004822.1:c.90908C>G (TTN) XP_016860311.1:p.Thr30303Arg
XM_017004823.1:c.72524C>G (TTN) XP_016860312.1:p.Thr24175Arg
XM_024453094.1:c.94019C>G (TTN) XP_024308862.1:p.Thr31340Arg
XM_024453095.1:c.94016C>G (TTN) XP_024308863.1:p.Thr31339Arg
XM_024453096.1:c.93449C>G (TTN) XP_024308864.1:p.Thr31150Arg
XM_024453097.1:c.90791C>G (TTN) XP_024308865.1:p.Thr30264Arg
XM_024453098.1:c.90710C>G (TTN) XP_024308866.1:p.Thr30237Arg
XM_024453099.1:c.72473C>G (TTN) XP_024308867.1:p.Thr24158Arg
XM_024453100.1:c.62327C>G (TTN) XP_024308868.1:p.Thr20776Arg