Canonical Allele Identifier: CA349456029

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544311G>C , CM000664.2:g.178544311G>C GRCh38
NC_000002.11:g.179409038G>C , CM000664.1:g.179409038G>C GRCh37
NC_000002.10:g.179117284G>C NCBI36
NG_011618.3:g.291492C>G , LRG_391:g.291492C>G
NG_051363.1:g.26485G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.88214C>G (TTN) ENSP00000343764.6:p.Pro29405Arg
ENST00000342175.11:c.69299C>G (TTN) ENSP00000340554.6:p.Pro23100Arg
ENST00000359218.10:c.69098C>G (TTN) ENSP00000352154.5:p.Pro23033Arg
ENST00000342175.10:c.69299C>G (TTN) ENSP00000340554.6:p.Pro23100Arg
ENST00000342992.10:c.88214C>G (TTN) ENSP00000343764.6:p.Pro29405Arg
ENST00000359218.9:c.69098C>G (TTN) ENSP00000352154.5:p.Pro23033Arg
ENST00000460472.6:c.68723C>G (TTN) ENSP00000434586.1:p.Pro22908Arg
ENST00000589042.5:c.95918C>G (TTN) MANE Select ENSP00000467141.1:p.Pro31973Arg
ENST00000591111.5:c.90995C>G (TTN) ENSP00000465570.1:p.Pro30332Arg
ENST00000615779.4:c.90995C>G (TTN) ENSP00000483597.1:p.Pro30332Arg
NM_001256850.1:c.90995C>G (TTN) NP_001243779.1:p.Pro30332Arg
NM_001267550.2:c.95918C>G (TTN) MANE Select NP_001254479.2:p.Pro31973Arg
NM_003319.4:c.68723C>G (TTN) NP_003310.4:p.Pro22908Arg
NM_133378.4:c.88214C>G (TTN) NP_596869.4:p.Pro29405Arg
NM_133432.3:c.69098C>G (TTN) NP_597676.3:p.Pro23033Arg
NM_133437.4:c.69299C>G (TTN) NP_597681.4:p.Pro23100Arg
NR_038271.1:n.446+20675G>C (TTN-AS1)
NR_038272.1:n.2043+1950G>C (TTN-AS1)
XM_011511729.1:c.95015C>G (TTN) XP_011510031.1:p.Pro31672Arg
XM_011511730.1:c.68909C>G (TTN) XP_011510032.1:p.Pro22970Arg
XM_011511731.1:c.68768C>G (TTN) XP_011510033.1:p.Pro22923Arg
XM_017004819.1:c.94811C>G (TTN) XP_016860308.1:p.Pro31604Arg
XM_017004820.1:c.90209C>G (TTN) XP_016860309.1:p.Pro30070Arg
XM_017004821.1:c.90206C>G (TTN) XP_016860310.1:p.Pro30069Arg
XM_017004822.1:c.87248C>G (TTN) XP_016860311.1:p.Pro29083Arg
XM_017004823.1:c.68864C>G (TTN) XP_016860312.1:p.Pro22955Arg
XM_024453094.1:c.90359C>G (TTN) XP_024308862.1:p.Pro30120Arg
XM_024453095.1:c.90356C>G (TTN) XP_024308863.1:p.Pro30119Arg
XM_024453096.1:c.89789C>G (TTN) XP_024308864.1:p.Pro29930Arg
XM_024453097.1:c.87131C>G (TTN) XP_024308865.1:p.Pro29044Arg
XM_024453098.1:c.87050C>G (TTN) XP_024308866.1:p.Pro29017Arg
XM_024453099.1:c.68813C>G (TTN) XP_024308867.1:p.Pro22938Arg
XM_024453100.1:c.58667C>G (TTN) XP_024308868.1:p.Pro19556Arg