Canonical Allele Identifier: CA349613834

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178569327G>C , CM000664.2:g.178569327G>C GRCh38
NC_000002.11:g.179434054G>C , CM000664.1:g.179434054G>C GRCh37
NC_000002.10:g.179142300G>C NCBI36
NG_011618.3:g.266476C>G , LRG_391:g.266476C>G
NG_051363.1:g.51501G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.69101C>G (TTN) ENSP00000343764.6:p.Pro23034Arg
ENST00000342175.11:c.50186C>G (TTN) ENSP00000340554.6:p.Pro16729Arg
ENST00000359218.10:c.49985C>G (TTN) ENSP00000352154.5:p.Pro16662Arg
ENST00000342175.10:c.50186C>G (TTN) ENSP00000340554.6:p.Pro16729Arg
ENST00000342992.10:c.69101C>G (TTN) ENSP00000343764.6:p.Pro23034Arg
ENST00000359218.9:c.49985C>G (TTN) ENSP00000352154.5:p.Pro16662Arg
ENST00000460472.6:c.49610C>G (TTN) ENSP00000434586.1:p.Pro16537Arg
ENST00000589042.5:c.76805C>G (TTN) MANE Select ENSP00000467141.1:p.Pro25602Arg
ENST00000591111.5:c.71882C>G (TTN) ENSP00000465570.1:p.Pro23961Arg
ENST00000615779.4:c.71882C>G (TTN) ENSP00000483597.1:p.Pro23961Arg
NM_001256850.1:c.71882C>G (TTN) NP_001243779.1:p.Pro23961Arg
NM_001267550.2:c.76805C>G (TTN) MANE Select NP_001254479.2:p.Pro25602Arg
NM_003319.4:c.49610C>G (TTN) NP_003310.4:p.Pro16537Arg
NM_133378.4:c.69101C>G (TTN) NP_596869.4:p.Pro23034Arg
NM_133432.3:c.49985C>G (TTN) NP_597676.3:p.Pro16662Arg
NM_133437.4:c.50186C>G (TTN) NP_597681.4:p.Pro16729Arg
NR_038271.1:n.447-1973G>C (TTN-AS1)
NR_038272.1:n.2044-13245G>C (TTN-AS1)
XM_011511729.1:c.75902C>G (TTN) XP_011510031.1:p.Pro25301Arg
XM_011511730.1:c.49796C>G (TTN) XP_011510032.1:p.Pro16599Arg
XM_011511731.1:c.49655C>G (TTN) XP_011510033.1:p.Pro16552Arg
XM_017004819.1:c.75698C>G (TTN) XP_016860308.1:p.Pro25233Arg
XM_017004820.1:c.71096C>G (TTN) XP_016860309.1:p.Pro23699Arg
XM_017004821.1:c.71093C>G (TTN) XP_016860310.1:p.Pro23698Arg
XM_017004822.1:c.68135C>G (TTN) XP_016860311.1:p.Pro22712Arg
XM_017004823.1:c.49751C>G (TTN) XP_016860312.1:p.Pro16584Arg
XM_024453094.1:c.71246C>G (TTN) XP_024308862.1:p.Pro23749Arg
XM_024453095.1:c.71243C>G (TTN) XP_024308863.1:p.Pro23748Arg
XM_024453096.1:c.70676C>G (TTN) XP_024308864.1:p.Pro23559Arg
XM_024453097.1:c.68018C>G (TTN) XP_024308865.1:p.Pro22673Arg
XM_024453098.1:c.67937C>G (TTN) XP_024308866.1:p.Pro22646Arg
XM_024453099.1:c.49700C>G (TTN) XP_024308867.1:p.Pro16567Arg
XM_024453100.1:c.39554C>G (TTN) XP_024308868.1:p.Pro13185Arg