Canonical Allele Identifier: CA349502803

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178551669T>G , CM000664.2:g.178551669T>G GRCh38
NC_000002.11:g.179416396T>G , CM000664.1:g.179416396T>G GRCh37
NC_000002.10:g.179124642T>G NCBI36
NG_011618.3:g.284134A>C , LRG_391:g.284134A>C
NG_051363.1:g.33843T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.83527A>C (TTN) ENSP00000343764.6:p.Ser27843Arg
ENST00000342175.11:c.64612A>C (TTN) ENSP00000340554.6:p.Ser21538Arg
ENST00000359218.10:c.64411A>C (TTN) ENSP00000352154.5:p.Ser21471Arg
ENST00000342175.10:c.64612A>C (TTN) ENSP00000340554.6:p.Ser21538Arg
ENST00000342992.10:c.83527A>C (TTN) ENSP00000343764.6:p.Ser27843Arg
ENST00000359218.9:c.64411A>C (TTN) ENSP00000352154.5:p.Ser21471Arg
ENST00000460472.6:c.64036A>C (TTN) ENSP00000434586.1:p.Ser21346Arg
ENST00000589042.5:c.91231A>C (TTN) MANE Select ENSP00000467141.1:p.Ser30411Arg
ENST00000591111.5:c.86308A>C (TTN) ENSP00000465570.1:p.Ser28770Arg
ENST00000615779.4:c.86308A>C (TTN) ENSP00000483597.1:p.Ser28770Arg
NM_001256850.1:c.86308A>C (TTN) NP_001243779.1:p.Ser28770Arg
NM_001267550.2:c.91231A>C (TTN) MANE Select NP_001254479.2:p.Ser30411Arg
NM_003319.4:c.64036A>C (TTN) NP_003310.4:p.Ser21346Arg
NM_133378.4:c.83527A>C (TTN) NP_596869.4:p.Ser27843Arg
NM_133432.3:c.64411A>C (TTN) NP_597676.3:p.Ser21471Arg
NM_133437.4:c.64612A>C (TTN) NP_597681.4:p.Ser21538Arg
NR_038271.1:n.447-19631T>G (TTN-AS1)
NR_038272.1:n.2043+9308T>G (TTN-AS1)
XM_011511729.1:c.90328A>C (TTN) XP_011510031.1:p.Ser30110Arg
XM_011511730.1:c.64222A>C (TTN) XP_011510032.1:p.Ser21408Arg
XM_011511731.1:c.64081A>C (TTN) XP_011510033.1:p.Ser21361Arg
XM_017004819.1:c.90124A>C (TTN) XP_016860308.1:p.Ser30042Arg
XM_017004820.1:c.85522A>C (TTN) XP_016860309.1:p.Ser28508Arg
XM_017004821.1:c.85519A>C (TTN) XP_016860310.1:p.Ser28507Arg
XM_017004822.1:c.82561A>C (TTN) XP_016860311.1:p.Ser27521Arg
XM_017004823.1:c.64177A>C (TTN) XP_016860312.1:p.Ser21393Arg
XM_024453094.1:c.85672A>C (TTN) XP_024308862.1:p.Ser28558Arg
XM_024453095.1:c.85669A>C (TTN) XP_024308863.1:p.Ser28557Arg
XM_024453096.1:c.85102A>C (TTN) XP_024308864.1:p.Ser28368Arg
XM_024453097.1:c.82444A>C (TTN) XP_024308865.1:p.Ser27482Arg
XM_024453098.1:c.82363A>C (TTN) XP_024308866.1:p.Ser27455Arg
XM_024453099.1:c.64126A>C (TTN) XP_024308867.1:p.Ser21376Arg
XM_024453100.1:c.53980A>C (TTN) XP_024308868.1:p.Ser17994Arg