Canonical Allele Identifier: CA349407293

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530632T>C , CM000664.2:g.178530632T>C GRCh38
NC_000002.11:g.179395359T>C , CM000664.1:g.179395359T>C GRCh37
NC_000002.10:g.179103605T>C NCBI36
NG_011618.3:g.305171A>G , LRG_391:g.305171A>G
NG_051363.1:g.12806T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98279A>G (TTN) ENSP00000343764.6:p.Glu32760Gly
ENST00000342175.11:c.79364A>G (TTN) ENSP00000340554.6:p.Glu26455Gly
ENST00000359218.10:c.79163A>G (TTN) ENSP00000352154.5:p.Glu26388Gly
ENST00000342175.10:c.79364A>G (TTN) ENSP00000340554.6:p.Glu26455Gly
ENST00000342992.10:c.98279A>G (TTN) ENSP00000343764.6:p.Glu32760Gly
ENST00000359218.9:c.79163A>G (TTN) ENSP00000352154.5:p.Glu26388Gly
ENST00000460472.6:c.78788A>G (TTN) ENSP00000434586.1:p.Glu26263Gly
ENST00000589042.5:c.105983A>G (TTN) MANE Select ENSP00000467141.1:p.Glu35328Gly
ENST00000591111.5:c.101060A>G (TTN) ENSP00000465570.1:p.Glu33687Gly
ENST00000615779.4:c.101060A>G (TTN) ENSP00000483597.1:p.Glu33687Gly
NM_001256850.1:c.101060A>G (TTN) NP_001243779.1:p.Glu33687Gly
NM_001267550.2:c.105983A>G (TTN) MANE Select NP_001254479.2:p.Glu35328Gly
NM_003319.4:c.78788A>G (TTN) NP_003310.4:p.Glu26263Gly
NM_133378.4:c.98279A>G (TTN) NP_596869.4:p.Glu32760Gly
NM_133432.3:c.79163A>G (TTN) NP_597676.3:p.Glu26388Gly
NM_133437.4:c.79364A>G (TTN) NP_597681.4:p.Glu26455Gly
NR_038271.1:n.446+6996T>C (TTN-AS1)
NR_038272.1:n.220-5100T>C (TTN-AS1)
XM_011511729.1:c.105080A>G (TTN) XP_011510031.1:p.Glu35027Gly
XM_011511730.1:c.78974A>G (TTN) XP_011510032.1:p.Glu26325Gly
XM_011511731.1:c.78833A>G (TTN) XP_011510033.1:p.Glu26278Gly
XM_017004819.1:c.104876A>G (TTN) XP_016860308.1:p.Glu34959Gly
XM_017004820.1:c.100274A>G (TTN) XP_016860309.1:p.Glu33425Gly
XM_017004821.1:c.100271A>G (TTN) XP_016860310.1:p.Glu33424Gly
XM_017004822.1:c.97313A>G (TTN) XP_016860311.1:p.Glu32438Gly
XM_017004823.1:c.78929A>G (TTN) XP_016860312.1:p.Glu26310Gly
XM_024453094.1:c.100424A>G (TTN) XP_024308862.1:p.Glu33475Gly
XM_024453095.1:c.100421A>G (TTN) XP_024308863.1:p.Glu33474Gly
XM_024453096.1:c.99854A>G (TTN) XP_024308864.1:p.Glu33285Gly
XM_024453097.1:c.97196A>G (TTN) XP_024308865.1:p.Glu32399Gly
XM_024453098.1:c.97115A>G (TTN) XP_024308866.1:p.Glu32372Gly
XM_024453099.1:c.78878A>G (TTN) XP_024308867.1:p.Glu26293Gly
XM_024453100.1:c.68732A>G (TTN) XP_024308868.1:p.Glu22911Gly