Canonical Allele Identifier: CA349454918

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544215G>C , CM000664.2:g.178544215G>C GRCh38
NC_000002.11:g.179408942G>C , CM000664.1:g.179408942G>C GRCh37
NC_000002.10:g.179117188G>C NCBI36
NG_011618.3:g.291588C>G , LRG_391:g.291588C>G
NG_051363.1:g.26389G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88310C>G (TTN) ENSP00000343764.6:p.Pro29437Arg
ENST00000342175.11:c.69395C>G (TTN) ENSP00000340554.6:p.Pro23132Arg
ENST00000359218.10:c.69194C>G (TTN) ENSP00000352154.5:p.Pro23065Arg
ENST00000342175.10:c.69395C>G (TTN) ENSP00000340554.6:p.Pro23132Arg
ENST00000342992.10:c.88310C>G (TTN) ENSP00000343764.6:p.Pro29437Arg
ENST00000359218.9:c.69194C>G (TTN) ENSP00000352154.5:p.Pro23065Arg
ENST00000460472.6:c.68819C>G (TTN) ENSP00000434586.1:p.Pro22940Arg
ENST00000589042.5:c.96014C>G (TTN) MANE Select ENSP00000467141.1:p.Pro32005Arg
ENST00000591111.5:c.91091C>G (TTN) ENSP00000465570.1:p.Pro30364Arg
ENST00000615779.4:c.91091C>G (TTN) ENSP00000483597.1:p.Pro30364Arg
NM_001256850.1:c.91091C>G (TTN) NP_001243779.1:p.Pro30364Arg
NM_001267550.2:c.96014C>G (TTN) MANE Select NP_001254479.2:p.Pro32005Arg
NM_003319.4:c.68819C>G (TTN) NP_003310.4:p.Pro22940Arg
NM_133378.4:c.88310C>G (TTN) NP_596869.4:p.Pro29437Arg
NM_133432.3:c.69194C>G (TTN) NP_597676.3:p.Pro23065Arg
NM_133437.4:c.69395C>G (TTN) NP_597681.4:p.Pro23132Arg
NR_038271.1:n.446+20579G>C (TTN-AS1)
NR_038272.1:n.2043+1854G>C (TTN-AS1)
XM_011511729.1:c.95111C>G (TTN) XP_011510031.1:p.Pro31704Arg
XM_011511730.1:c.69005C>G (TTN) XP_011510032.1:p.Pro23002Arg
XM_011511731.1:c.68864C>G (TTN) XP_011510033.1:p.Pro22955Arg
XM_017004819.1:c.94907C>G (TTN) XP_016860308.1:p.Pro31636Arg
XM_017004820.1:c.90305C>G (TTN) XP_016860309.1:p.Pro30102Arg
XM_017004821.1:c.90302C>G (TTN) XP_016860310.1:p.Pro30101Arg
XM_017004822.1:c.87344C>G (TTN) XP_016860311.1:p.Pro29115Arg
XM_017004823.1:c.68960C>G (TTN) XP_016860312.1:p.Pro22987Arg
XM_024453094.1:c.90455C>G (TTN) XP_024308862.1:p.Pro30152Arg
XM_024453095.1:c.90452C>G (TTN) XP_024308863.1:p.Pro30151Arg
XM_024453096.1:c.89885C>G (TTN) XP_024308864.1:p.Pro29962Arg
XM_024453097.1:c.87227C>G (TTN) XP_024308865.1:p.Pro29076Arg
XM_024453098.1:c.87146C>G (TTN) XP_024308866.1:p.Pro29049Arg
XM_024453099.1:c.68909C>G (TTN) XP_024308867.1:p.Pro22970Arg
XM_024453100.1:c.58763C>G (TTN) XP_024308868.1:p.Pro19588Arg