Canonical Allele Identifier: CA349478910

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178547635C>G , CM000664.2:g.178547635C>G GRCh38
NC_000002.11:g.179412362C>G , CM000664.1:g.179412362C>G GRCh37
NC_000002.10:g.179120608C>G NCBI36
NG_011618.3:g.288168G>C , LRG_391:g.288168G>C
NG_051363.1:g.29809C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.86287G>C (TTN) ENSP00000343764.6:p.Gly28763Arg
ENST00000342175.11:c.67372G>C (TTN) ENSP00000340554.6:p.Gly22458Arg
ENST00000359218.10:c.67171G>C (TTN) ENSP00000352154.5:p.Gly22391Arg
ENST00000342175.10:c.67372G>C (TTN) ENSP00000340554.6:p.Gly22458Arg
ENST00000342992.10:c.86287G>C (TTN) ENSP00000343764.6:p.Gly28763Arg
ENST00000359218.9:c.67171G>C (TTN) ENSP00000352154.5:p.Gly22391Arg
ENST00000460472.6:c.66796G>C (TTN) ENSP00000434586.1:p.Gly22266Arg
ENST00000589042.5:c.93991G>C (TTN) MANE Select ENSP00000467141.1:p.Gly31331Arg
ENST00000591111.5:c.89068G>C (TTN) ENSP00000465570.1:p.Gly29690Arg
ENST00000615779.4:c.89068G>C (TTN) ENSP00000483597.1:p.Gly29690Arg
NM_001256850.1:c.89068G>C (TTN) NP_001243779.1:p.Gly29690Arg
NM_001267550.2:c.93991G>C (TTN) MANE Select NP_001254479.2:p.Gly31331Arg
NM_003319.4:c.66796G>C (TTN) NP_003310.4:p.Gly22266Arg
NM_133378.4:c.86287G>C (TTN) NP_596869.4:p.Gly28763Arg
NM_133432.3:c.67171G>C (TTN) NP_597676.3:p.Gly22391Arg
NM_133437.4:c.67372G>C (TTN) NP_597681.4:p.Gly22458Arg
NR_038271.1:n.447-23665C>G (TTN-AS1)
NR_038272.1:n.2043+5274C>G (TTN-AS1)
XM_011511729.1:c.93088G>C (TTN) XP_011510031.1:p.Gly31030Arg
XM_011511730.1:c.66982G>C (TTN) XP_011510032.1:p.Gly22328Arg
XM_011511731.1:c.66841G>C (TTN) XP_011510033.1:p.Gly22281Arg
XM_017004819.1:c.92884G>C (TTN) XP_016860308.1:p.Gly30962Arg
XM_017004820.1:c.88282G>C (TTN) XP_016860309.1:p.Gly29428Arg
XM_017004821.1:c.88279G>C (TTN) XP_016860310.1:p.Gly29427Arg
XM_017004822.1:c.85321G>C (TTN) XP_016860311.1:p.Gly28441Arg
XM_017004823.1:c.66937G>C (TTN) XP_016860312.1:p.Gly22313Arg
XM_024453094.1:c.88432G>C (TTN) XP_024308862.1:p.Gly29478Arg
XM_024453095.1:c.88429G>C (TTN) XP_024308863.1:p.Gly29477Arg
XM_024453096.1:c.87862G>C (TTN) XP_024308864.1:p.Gly29288Arg
XM_024453097.1:c.85204G>C (TTN) XP_024308865.1:p.Gly28402Arg
XM_024453098.1:c.85123G>C (TTN) XP_024308866.1:p.Gly28375Arg
XM_024453099.1:c.66886G>C (TTN) XP_024308867.1:p.Gly22296Arg
XM_024453100.1:c.56740G>C (TTN) XP_024308868.1:p.Gly18914Arg