Canonical Allele Identifier: CA349446130

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178543308G>C , CM000664.2:g.178543308G>C GRCh38
NC_000002.11:g.179408035G>C , CM000664.1:g.179408035G>C GRCh37
NC_000002.10:g.179116281G>C NCBI36
NG_011618.3:g.292495C>G , LRG_391:g.292495C>G
NG_051363.1:g.25482G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88961C>G (TTN) ENSP00000343764.6:p.Ala29654Gly
ENST00000342175.11:c.70046C>G (TTN) ENSP00000340554.6:p.Ala23349Gly
ENST00000359218.10:c.69845C>G (TTN) ENSP00000352154.5:p.Ala23282Gly
ENST00000342175.10:c.70046C>G (TTN) ENSP00000340554.6:p.Ala23349Gly
ENST00000342992.10:c.88961C>G (TTN) ENSP00000343764.6:p.Ala29654Gly
ENST00000359218.9:c.69845C>G (TTN) ENSP00000352154.5:p.Ala23282Gly
ENST00000460472.6:c.69470C>G (TTN) ENSP00000434586.1:p.Ala23157Gly
ENST00000589042.5:c.96665C>G (TTN) MANE Select ENSP00000467141.1:p.Ala32222Gly
ENST00000591111.5:c.91742C>G (TTN) ENSP00000465570.1:p.Ala30581Gly
ENST00000615779.4:c.91742C>G (TTN) ENSP00000483597.1:p.Ala30581Gly
NM_001256850.1:c.91742C>G (TTN) NP_001243779.1:p.Ala30581Gly
NM_001267550.2:c.96665C>G (TTN) MANE Select NP_001254479.2:p.Ala32222Gly
NM_003319.4:c.69470C>G (TTN) NP_003310.4:p.Ala23157Gly
NM_133378.4:c.88961C>G (TTN) NP_596869.4:p.Ala29654Gly
NM_133432.3:c.69845C>G (TTN) NP_597676.3:p.Ala23282Gly
NM_133437.4:c.70046C>G (TTN) NP_597681.4:p.Ala23349Gly
NR_038271.1:n.446+19672G>C (TTN-AS1)
NR_038272.1:n.2043+947G>C (TTN-AS1)
XM_011511729.1:c.95762C>G (TTN) XP_011510031.1:p.Ala31921Gly
XM_011511730.1:c.69656C>G (TTN) XP_011510032.1:p.Ala23219Gly
XM_011511731.1:c.69515C>G (TTN) XP_011510033.1:p.Ala23172Gly
XM_017004819.1:c.95558C>G (TTN) XP_016860308.1:p.Ala31853Gly
XM_017004820.1:c.90956C>G (TTN) XP_016860309.1:p.Ala30319Gly
XM_017004821.1:c.90953C>G (TTN) XP_016860310.1:p.Ala30318Gly
XM_017004822.1:c.87995C>G (TTN) XP_016860311.1:p.Ala29332Gly
XM_017004823.1:c.69611C>G (TTN) XP_016860312.1:p.Ala23204Gly
XM_024453094.1:c.91106C>G (TTN) XP_024308862.1:p.Ala30369Gly
XM_024453095.1:c.91103C>G (TTN) XP_024308863.1:p.Ala30368Gly
XM_024453096.1:c.90536C>G (TTN) XP_024308864.1:p.Ala30179Gly
XM_024453097.1:c.87878C>G (TTN) XP_024308865.1:p.Ala29293Gly
XM_024453098.1:c.87797C>G (TTN) XP_024308866.1:p.Ala29266Gly
XM_024453099.1:c.69560C>G (TTN) XP_024308867.1:p.Ala23187Gly
XM_024453100.1:c.59414C>G (TTN) XP_024308868.1:p.Ala19805Gly