Canonical Allele Identifier: CA349502899

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178551684C>G , CM000664.2:g.178551684C>G GRCh38
NC_000002.11:g.179416411C>G , CM000664.1:g.179416411C>G GRCh37
NC_000002.10:g.179124657C>G NCBI36
NG_011618.3:g.284119G>C , LRG_391:g.284119G>C
NG_051363.1:g.33858C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.83512G>C (TTN) ENSP00000343764.6:p.Gly27838Arg
ENST00000342175.11:c.64597G>C (TTN) ENSP00000340554.6:p.Gly21533Arg
ENST00000359218.10:c.64396G>C (TTN) ENSP00000352154.5:p.Gly21466Arg
ENST00000342175.10:c.64597G>C (TTN) ENSP00000340554.6:p.Gly21533Arg
ENST00000342992.10:c.83512G>C (TTN) ENSP00000343764.6:p.Gly27838Arg
ENST00000359218.9:c.64396G>C (TTN) ENSP00000352154.5:p.Gly21466Arg
ENST00000460472.6:c.64021G>C (TTN) ENSP00000434586.1:p.Gly21341Arg
ENST00000589042.5:c.91216G>C (TTN) MANE Select ENSP00000467141.1:p.Gly30406Arg
ENST00000591111.5:c.86293G>C (TTN) ENSP00000465570.1:p.Gly28765Arg
ENST00000615779.4:c.86293G>C (TTN) ENSP00000483597.1:p.Gly28765Arg
NM_001256850.1:c.86293G>C (TTN) NP_001243779.1:p.Gly28765Arg
NM_001267550.2:c.91216G>C (TTN) MANE Select NP_001254479.2:p.Gly30406Arg
NM_003319.4:c.64021G>C (TTN) NP_003310.4:p.Gly21341Arg
NM_133378.4:c.83512G>C (TTN) NP_596869.4:p.Gly27838Arg
NM_133432.3:c.64396G>C (TTN) NP_597676.3:p.Gly21466Arg
NM_133437.4:c.64597G>C (TTN) NP_597681.4:p.Gly21533Arg
NR_038271.1:n.447-19616C>G (TTN-AS1)
NR_038272.1:n.2043+9323C>G (TTN-AS1)
XM_011511729.1:c.90313G>C (TTN) XP_011510031.1:p.Gly30105Arg
XM_011511730.1:c.64207G>C (TTN) XP_011510032.1:p.Gly21403Arg
XM_011511731.1:c.64066G>C (TTN) XP_011510033.1:p.Gly21356Arg
XM_017004819.1:c.90109G>C (TTN) XP_016860308.1:p.Gly30037Arg
XM_017004820.1:c.85507G>C (TTN) XP_016860309.1:p.Gly28503Arg
XM_017004821.1:c.85504G>C (TTN) XP_016860310.1:p.Gly28502Arg
XM_017004822.1:c.82546G>C (TTN) XP_016860311.1:p.Gly27516Arg
XM_017004823.1:c.64162G>C (TTN) XP_016860312.1:p.Gly21388Arg
XM_024453094.1:c.85657G>C (TTN) XP_024308862.1:p.Gly28553Arg
XM_024453095.1:c.85654G>C (TTN) XP_024308863.1:p.Gly28552Arg
XM_024453096.1:c.85087G>C (TTN) XP_024308864.1:p.Gly28363Arg
XM_024453097.1:c.82429G>C (TTN) XP_024308865.1:p.Gly27477Arg
XM_024453098.1:c.82348G>C (TTN) XP_024308866.1:p.Gly27450Arg
XM_024453099.1:c.64111G>C (TTN) XP_024308867.1:p.Gly21371Arg
XM_024453100.1:c.53965G>C (TTN) XP_024308868.1:p.Gly17989Arg