Canonical Allele Identifier: CA349490061

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178548762G>C , CM000664.2:g.178548762G>C GRCh38
NC_000002.11:g.179413489G>C , CM000664.1:g.179413489G>C GRCh37
NC_000002.10:g.179121735G>C NCBI36
NG_011618.3:g.287041C>G , LRG_391:g.287041C>G
NG_051363.1:g.30936G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.85160C>G (TTN) ENSP00000343764.6:p.Pro28387Arg
ENST00000342175.11:c.66245C>G (TTN) ENSP00000340554.6:p.Pro22082Arg
ENST00000359218.10:c.66044C>G (TTN) ENSP00000352154.5:p.Pro22015Arg
ENST00000342175.10:c.66245C>G (TTN) ENSP00000340554.6:p.Pro22082Arg
ENST00000342992.10:c.85160C>G (TTN) ENSP00000343764.6:p.Pro28387Arg
ENST00000359218.9:c.66044C>G (TTN) ENSP00000352154.5:p.Pro22015Arg
ENST00000460472.6:c.65669C>G (TTN) ENSP00000434586.1:p.Pro21890Arg
ENST00000589042.5:c.92864C>G (TTN) MANE Select ENSP00000467141.1:p.Pro30955Arg
ENST00000591111.5:c.87941C>G (TTN) ENSP00000465570.1:p.Pro29314Arg
ENST00000615779.4:c.87941C>G (TTN) ENSP00000483597.1:p.Pro29314Arg
NM_001256850.1:c.87941C>G (TTN) NP_001243779.1:p.Pro29314Arg
NM_001267550.2:c.92864C>G (TTN) MANE Select NP_001254479.2:p.Pro30955Arg
NM_003319.4:c.65669C>G (TTN) NP_003310.4:p.Pro21890Arg
NM_133378.4:c.85160C>G (TTN) NP_596869.4:p.Pro28387Arg
NM_133432.3:c.66044C>G (TTN) NP_597676.3:p.Pro22015Arg
NM_133437.4:c.66245C>G (TTN) NP_597681.4:p.Pro22082Arg
NR_038271.1:n.447-22538G>C (TTN-AS1)
NR_038272.1:n.2043+6401G>C (TTN-AS1)
XM_011511729.1:c.91961C>G (TTN) XP_011510031.1:p.Pro30654Arg
XM_011511730.1:c.65855C>G (TTN) XP_011510032.1:p.Pro21952Arg
XM_011511731.1:c.65714C>G (TTN) XP_011510033.1:p.Pro21905Arg
XM_017004819.1:c.91757C>G (TTN) XP_016860308.1:p.Pro30586Arg
XM_017004820.1:c.87155C>G (TTN) XP_016860309.1:p.Pro29052Arg
XM_017004821.1:c.87152C>G (TTN) XP_016860310.1:p.Pro29051Arg
XM_017004822.1:c.84194C>G (TTN) XP_016860311.1:p.Pro28065Arg
XM_017004823.1:c.65810C>G (TTN) XP_016860312.1:p.Pro21937Arg
XM_024453094.1:c.87305C>G (TTN) XP_024308862.1:p.Pro29102Arg
XM_024453095.1:c.87302C>G (TTN) XP_024308863.1:p.Pro29101Arg
XM_024453096.1:c.86735C>G (TTN) XP_024308864.1:p.Pro28912Arg
XM_024453097.1:c.84077C>G (TTN) XP_024308865.1:p.Pro28026Arg
XM_024453098.1:c.83996C>G (TTN) XP_024308866.1:p.Pro27999Arg
XM_024453099.1:c.65759C>G (TTN) XP_024308867.1:p.Pro21920Arg
XM_024453100.1:c.55613C>G (TTN) XP_024308868.1:p.Pro18538Arg