Canonical Allele Identifier: CA349456046

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544312G>C , CM000664.2:g.178544312G>C GRCh38
NC_000002.11:g.179409039G>C , CM000664.1:g.179409039G>C GRCh37
NC_000002.10:g.179117285G>C NCBI36
NG_011618.3:g.291491C>G , LRG_391:g.291491C>G
NG_051363.1:g.26486G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.88213C>G (TTN) ENSP00000343764.6:p.Pro29405Ala
ENST00000342175.11:c.69298C>G (TTN) ENSP00000340554.6:p.Pro23100Ala
ENST00000359218.10:c.69097C>G (TTN) ENSP00000352154.5:p.Pro23033Ala
ENST00000342175.10:c.69298C>G (TTN) ENSP00000340554.6:p.Pro23100Ala
ENST00000342992.10:c.88213C>G (TTN) ENSP00000343764.6:p.Pro29405Ala
ENST00000359218.9:c.69097C>G (TTN) ENSP00000352154.5:p.Pro23033Ala
ENST00000460472.6:c.68722C>G (TTN) ENSP00000434586.1:p.Pro22908Ala
ENST00000589042.5:c.95917C>G (TTN) MANE Select ENSP00000467141.1:p.Pro31973Ala
ENST00000591111.5:c.90994C>G (TTN) ENSP00000465570.1:p.Pro30332Ala
ENST00000615779.4:c.90994C>G (TTN) ENSP00000483597.1:p.Pro30332Ala
NM_001256850.1:c.90994C>G (TTN) NP_001243779.1:p.Pro30332Ala
NM_001267550.2:c.95917C>G (TTN) MANE Select NP_001254479.2:p.Pro31973Ala
NM_003319.4:c.68722C>G (TTN) NP_003310.4:p.Pro22908Ala
NM_133378.4:c.88213C>G (TTN) NP_596869.4:p.Pro29405Ala
NM_133432.3:c.69097C>G (TTN) NP_597676.3:p.Pro23033Ala
NM_133437.4:c.69298C>G (TTN) NP_597681.4:p.Pro23100Ala
NR_038271.1:n.446+20676G>C (TTN-AS1)
NR_038272.1:n.2043+1951G>C (TTN-AS1)
XM_011511729.1:c.95014C>G (TTN) XP_011510031.1:p.Pro31672Ala
XM_011511730.1:c.68908C>G (TTN) XP_011510032.1:p.Pro22970Ala
XM_011511731.1:c.68767C>G (TTN) XP_011510033.1:p.Pro22923Ala
XM_017004819.1:c.94810C>G (TTN) XP_016860308.1:p.Pro31604Ala
XM_017004820.1:c.90208C>G (TTN) XP_016860309.1:p.Pro30070Ala
XM_017004821.1:c.90205C>G (TTN) XP_016860310.1:p.Pro30069Ala
XM_017004822.1:c.87247C>G (TTN) XP_016860311.1:p.Pro29083Ala
XM_017004823.1:c.68863C>G (TTN) XP_016860312.1:p.Pro22955Ala
XM_024453094.1:c.90358C>G (TTN) XP_024308862.1:p.Pro30120Ala
XM_024453095.1:c.90355C>G (TTN) XP_024308863.1:p.Pro30119Ala
XM_024453096.1:c.89788C>G (TTN) XP_024308864.1:p.Pro29930Ala
XM_024453097.1:c.87130C>G (TTN) XP_024308865.1:p.Pro29044Ala
XM_024453098.1:c.87049C>G (TTN) XP_024308866.1:p.Pro29017Ala
XM_024453099.1:c.68812C>G (TTN) XP_024308867.1:p.Pro22938Ala
XM_024453100.1:c.58666C>G (TTN) XP_024308868.1:p.Pro19556Ala