Canonical Allele Identifier: CA349456042

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.88213C>T (TTN) ENSP00000343764.6:p.Pro29405Ser
ENST00000342175.11:c.69298C>T (TTN) ENSP00000340554.6:p.Pro23100Ser
ENST00000359218.10:c.69097C>T (TTN) ENSP00000352154.5:p.Pro23033Ser
ENST00000342175.10:c.69298C>T (TTN) ENSP00000340554.6:p.Pro23100Ser
ENST00000342992.10:c.88213C>T (TTN) ENSP00000343764.6:p.Pro29405Ser
ENST00000359218.9:c.69097C>T (TTN) ENSP00000352154.5:p.Pro23033Ser
ENST00000460472.6:c.68722C>T (TTN) ENSP00000434586.1:p.Pro22908Ser
ENST00000589042.5:c.95917C>T (TTN) MANE Select ENSP00000467141.1:p.Pro31973Ser
ENST00000591111.5:c.90994C>T (TTN) ENSP00000465570.1:p.Pro30332Ser
ENST00000615779.4:c.90994C>T (TTN) ENSP00000483597.1:p.Pro30332Ser
NM_001256850.1:c.90994C>T (TTN) NP_001243779.1:p.Pro30332Ser
NM_001267550.2:c.95917C>T (TTN) MANE Select NP_001254479.2:p.Pro31973Ser
NM_003319.4:c.68722C>T (TTN) NP_003310.4:p.Pro22908Ser
NM_133378.4:c.88213C>T (TTN) NP_596869.4:p.Pro29405Ser
NM_133432.3:c.69097C>T (TTN) NP_597676.3:p.Pro23033Ser
NM_133437.4:c.69298C>T (TTN) NP_597681.4:p.Pro23100Ser
NR_038271.1:n.446+20676G>A (TTN-AS1)
NR_038272.1:n.2043+1951G>A (TTN-AS1)
XM_011511729.1:c.95014C>T (TTN) XP_011510031.1:p.Pro31672Ser
XM_011511730.1:c.68908C>T (TTN) XP_011510032.1:p.Pro22970Ser
XM_011511731.1:c.68767C>T (TTN) XP_011510033.1:p.Pro22923Ser
XM_017004819.1:c.94810C>T (TTN) XP_016860308.1:p.Pro31604Ser
XM_017004820.1:c.90208C>T (TTN) XP_016860309.1:p.Pro30070Ser
XM_017004821.1:c.90205C>T (TTN) XP_016860310.1:p.Pro30069Ser
XM_017004822.1:c.87247C>T (TTN) XP_016860311.1:p.Pro29083Ser
XM_017004823.1:c.68863C>T (TTN) XP_016860312.1:p.Pro22955Ser
XM_024453094.1:c.90358C>T (TTN) XP_024308862.1:p.Pro30120Ser
XM_024453095.1:c.90355C>T (TTN) XP_024308863.1:p.Pro30119Ser
XM_024453096.1:c.89788C>T (TTN) XP_024308864.1:p.Pro29930Ser
XM_024453097.1:c.87130C>T (TTN) XP_024308865.1:p.Pro29044Ser
XM_024453098.1:c.87049C>T (TTN) XP_024308866.1:p.Pro29017Ser
XM_024453099.1:c.68812C>T (TTN) XP_024308867.1:p.Pro22938Ser
XM_024453100.1:c.58666C>T (TTN) XP_024308868.1:p.Pro19556Ser