Canonical Allele Identifier: CA349495561

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178549773G>C , CM000664.2:g.178549773G>C GRCh38
NC_000002.11:g.179414500G>C , CM000664.1:g.179414500G>C GRCh37
NC_000002.10:g.179122746G>C NCBI36
NG_011618.3:g.286030C>G , LRG_391:g.286030C>G
NG_051363.1:g.31947G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.84245C>G (TTN) ENSP00000343764.6:p.Ala28082Gly
ENST00000342175.11:c.65330C>G (TTN) ENSP00000340554.6:p.Ala21777Gly
ENST00000359218.10:c.65129C>G (TTN) ENSP00000352154.5:p.Ala21710Gly
ENST00000342175.10:c.65330C>G (TTN) ENSP00000340554.6:p.Ala21777Gly
ENST00000342992.10:c.84245C>G (TTN) ENSP00000343764.6:p.Ala28082Gly
ENST00000359218.9:c.65129C>G (TTN) ENSP00000352154.5:p.Ala21710Gly
ENST00000460472.6:c.64754C>G (TTN) ENSP00000434586.1:p.Ala21585Gly
ENST00000589042.5:c.91949C>G (TTN) MANE Select ENSP00000467141.1:p.Ala30650Gly
ENST00000591111.5:c.87026C>G (TTN) ENSP00000465570.1:p.Ala29009Gly
ENST00000615779.4:c.87026C>G (TTN) ENSP00000483597.1:p.Ala29009Gly
NM_001256850.1:c.87026C>G (TTN) NP_001243779.1:p.Ala29009Gly
NM_001267550.2:c.91949C>G (TTN) MANE Select NP_001254479.2:p.Ala30650Gly
NM_003319.4:c.64754C>G (TTN) NP_003310.4:p.Ala21585Gly
NM_133378.4:c.84245C>G (TTN) NP_596869.4:p.Ala28082Gly
NM_133432.3:c.65129C>G (TTN) NP_597676.3:p.Ala21710Gly
NM_133437.4:c.65330C>G (TTN) NP_597681.4:p.Ala21777Gly
NR_038271.1:n.447-21527G>C (TTN-AS1)
NR_038272.1:n.2043+7412G>C (TTN-AS1)
XM_011511729.1:c.91046C>G (TTN) XP_011510031.1:p.Ala30349Gly
XM_011511730.1:c.64940C>G (TTN) XP_011510032.1:p.Ala21647Gly
XM_011511731.1:c.64799C>G (TTN) XP_011510033.1:p.Ala21600Gly
XM_017004819.1:c.90842C>G (TTN) XP_016860308.1:p.Ala30281Gly
XM_017004820.1:c.86240C>G (TTN) XP_016860309.1:p.Ala28747Gly
XM_017004821.1:c.86237C>G (TTN) XP_016860310.1:p.Ala28746Gly
XM_017004822.1:c.83279C>G (TTN) XP_016860311.1:p.Ala27760Gly
XM_017004823.1:c.64895C>G (TTN) XP_016860312.1:p.Ala21632Gly
XM_024453094.1:c.86390C>G (TTN) XP_024308862.1:p.Ala28797Gly
XM_024453095.1:c.86387C>G (TTN) XP_024308863.1:p.Ala28796Gly
XM_024453096.1:c.85820C>G (TTN) XP_024308864.1:p.Ala28607Gly
XM_024453097.1:c.83162C>G (TTN) XP_024308865.1:p.Ala27721Gly
XM_024453098.1:c.83081C>G (TTN) XP_024308866.1:p.Ala27694Gly
XM_024453099.1:c.64844C>G (TTN) XP_024308867.1:p.Ala21615Gly
XM_024453100.1:c.54698C>G (TTN) XP_024308868.1:p.Ala18233Gly