Canonical Allele Identifier: CA349423346

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178579572C>G , CM000664.2:g.178579572C>G GRCh38
NC_000002.11:g.179444299C>G , CM000664.1:g.179444299C>G GRCh37
NC_000002.10:g.179152545C>G NCBI36
NG_011618.3:g.256231G>C , LRG_391:g.256231G>C
NG_051363.1:g.61746C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.59921G>C (TTN) ENSP00000343764.6:p.Arg19974Thr
ENST00000342175.11:c.41006G>C (TTN) ENSP00000340554.6:p.Arg13669Thr
ENST00000359218.10:c.40805G>C (TTN) ENSP00000352154.5:p.Arg13602Thr
ENST00000342175.10:c.41006G>C (TTN) ENSP00000340554.6:p.Arg13669Thr
ENST00000342992.10:c.59921G>C (TTN) ENSP00000343764.6:p.Arg19974Thr
ENST00000359218.9:c.40805G>C (TTN) ENSP00000352154.5:p.Arg13602Thr
ENST00000460472.6:c.40430G>C (TTN) ENSP00000434586.1:p.Arg13477Thr
ENST00000589042.5:c.67625G>C (TTN) MANE Select ENSP00000467141.1:p.Arg22542Thr
ENST00000591111.5:c.62702G>C (TTN) ENSP00000465570.1:p.Arg20901Thr
ENST00000615779.4:c.62702G>C (TTN) ENSP00000483597.1:p.Arg20901Thr
NM_001256850.1:c.62702G>C (TTN) NP_001243779.1:p.Arg20901Thr
NM_001267550.2:c.67625G>C (TTN) MANE Select NP_001254479.2:p.Arg22542Thr
NM_003319.4:c.40430G>C (TTN) NP_003310.4:p.Arg13477Thr
NM_133378.4:c.59921G>C (TTN) NP_596869.4:p.Arg19974Thr
NM_133432.3:c.40805G>C (TTN) NP_597676.3:p.Arg13602Thr
NM_133437.4:c.41006G>C (TTN) NP_597681.4:p.Arg13669Thr
NR_038271.1:n.596+8123C>G (TTN-AS1)
NR_038272.1:n.2044-3000C>G (TTN-AS1)
XM_011511729.1:c.66722G>C (TTN) XP_011510031.1:p.Arg22241Thr
XM_011511730.1:c.40616G>C (TTN) XP_011510032.1:p.Arg13539Thr
XM_011511731.1:c.40475G>C (TTN) XP_011510033.1:p.Arg13492Thr
XM_017004819.1:c.66518G>C (TTN) XP_016860308.1:p.Arg22173Thr
XM_017004820.1:c.61916G>C (TTN) XP_016860309.1:p.Arg20639Thr
XM_017004821.1:c.61913G>C (TTN) XP_016860310.1:p.Arg20638Thr
XM_017004822.1:c.58955G>C (TTN) XP_016860311.1:p.Arg19652Thr
XM_017004823.1:c.40571G>C (TTN) XP_016860312.1:p.Arg13524Thr
XM_024453094.1:c.62066G>C (TTN) XP_024308862.1:p.Arg20689Thr
XM_024453095.1:c.62063G>C (TTN) XP_024308863.1:p.Arg20688Thr
XM_024453096.1:c.61496G>C (TTN) XP_024308864.1:p.Arg20499Thr
XM_024453097.1:c.58838G>C (TTN) XP_024308865.1:p.Arg19613Thr
XM_024453098.1:c.58757G>C (TTN) XP_024308866.1:p.Arg19586Thr
XM_024453099.1:c.40520G>C (TTN) XP_024308867.1:p.Arg13507Thr
XM_024453100.1:c.30374G>C (TTN) XP_024308868.1:p.Arg10125Thr