Canonical Allele Identifier: CA349581331

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178564616G>C , CM000664.2:g.178564616G>C GRCh38
NC_000002.11:g.179429343G>C , CM000664.1:g.179429343G>C GRCh37
NC_000002.10:g.179137589G>C NCBI36
NG_011618.3:g.271187C>G , LRG_391:g.271187C>G
NG_051363.1:g.46790G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.73812C>G (TTN) ENSP00000343764.6:p.Asp24604Glu
ENST00000342175.11:c.54897C>G (TTN) ENSP00000340554.6:p.Asp18299Glu
ENST00000359218.10:c.54696C>G (TTN) ENSP00000352154.5:p.Asp18232Glu
ENST00000342175.10:c.54897C>G (TTN) ENSP00000340554.6:p.Asp18299Glu
ENST00000342992.10:c.73812C>G (TTN) ENSP00000343764.6:p.Asp24604Glu
ENST00000359218.9:c.54696C>G (TTN) ENSP00000352154.5:p.Asp18232Glu
ENST00000460472.6:c.54321C>G (TTN) ENSP00000434586.1:p.Asp18107Glu
ENST00000589042.5:c.81516C>G (TTN) MANE Select ENSP00000467141.1:p.Asp27172Glu
ENST00000591111.5:c.76593C>G (TTN) ENSP00000465570.1:p.Asp25531Glu
ENST00000615779.4:c.76593C>G (TTN) ENSP00000483597.1:p.Asp25531Glu
NM_001256850.1:c.76593C>G (TTN) NP_001243779.1:p.Asp25531Glu
NM_001267550.2:c.81516C>G (TTN) MANE Select NP_001254479.2:p.Asp27172Glu
NM_003319.4:c.54321C>G (TTN) NP_003310.4:p.Asp18107Glu
NM_133378.4:c.73812C>G (TTN) NP_596869.4:p.Asp24604Glu
NM_133432.3:c.54696C>G (TTN) NP_597676.3:p.Asp18232Glu
NM_133437.4:c.54897C>G (TTN) NP_597681.4:p.Asp18299Glu
NR_038271.1:n.447-6684G>C (TTN-AS1)
NR_038272.1:n.2044-17956G>C (TTN-AS1)
XM_011511729.1:c.80613C>G (TTN) XP_011510031.1:p.Asp26871Glu
XM_011511730.1:c.54507C>G (TTN) XP_011510032.1:p.Asp18169Glu
XM_011511731.1:c.54366C>G (TTN) XP_011510033.1:p.Asp18122Glu
XM_017004819.1:c.80409C>G (TTN) XP_016860308.1:p.Asp26803Glu
XM_017004820.1:c.75807C>G (TTN) XP_016860309.1:p.Asp25269Glu
XM_017004821.1:c.75804C>G (TTN) XP_016860310.1:p.Asp25268Glu
XM_017004822.1:c.72846C>G (TTN) XP_016860311.1:p.Asp24282Glu
XM_017004823.1:c.54462C>G (TTN) XP_016860312.1:p.Asp18154Glu
XM_024453094.1:c.75957C>G (TTN) XP_024308862.1:p.Asp25319Glu
XM_024453095.1:c.75954C>G (TTN) XP_024308863.1:p.Asp25318Glu
XM_024453096.1:c.75387C>G (TTN) XP_024308864.1:p.Asp25129Glu
XM_024453097.1:c.72729C>G (TTN) XP_024308865.1:p.Asp24243Glu
XM_024453098.1:c.72648C>G (TTN) XP_024308866.1:p.Asp24216Glu
XM_024453099.1:c.54411C>G (TTN) XP_024308867.1:p.Asp18137Glu
XM_024453100.1:c.44265C>G (TTN) XP_024308868.1:p.Asp14755Glu