Canonical Allele Identifier: CA349512767

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178552676T>C , CM000664.2:g.178552676T>C GRCh38
NC_000002.11:g.179417403T>C , CM000664.1:g.179417403T>C GRCh37
NC_000002.10:g.179125649T>C NCBI36
NG_011618.3:g.283127A>G , LRG_391:g.283127A>G
NG_051363.1:g.34850T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.82520A>G (TTN) ENSP00000343764.6:p.Gln27507Arg
ENST00000342175.11:c.63605A>G (TTN) ENSP00000340554.6:p.Gln21202Arg
ENST00000359218.10:c.63404A>G (TTN) ENSP00000352154.5:p.Gln21135Arg
ENST00000342175.10:c.63605A>G (TTN) ENSP00000340554.6:p.Gln21202Arg
ENST00000342992.10:c.82520A>G (TTN) ENSP00000343764.6:p.Gln27507Arg
ENST00000359218.9:c.63404A>G (TTN) ENSP00000352154.5:p.Gln21135Arg
ENST00000460472.6:c.63029A>G (TTN) ENSP00000434586.1:p.Gln21010Arg
ENST00000589042.5:c.90224A>G (TTN) MANE Select ENSP00000467141.1:p.Gln30075Arg
ENST00000591111.5:c.85301A>G (TTN) ENSP00000465570.1:p.Gln28434Arg
ENST00000615779.4:c.85301A>G (TTN) ENSP00000483597.1:p.Gln28434Arg
NM_001256850.1:c.85301A>G (TTN) NP_001243779.1:p.Gln28434Arg
NM_001267550.2:c.90224A>G (TTN) MANE Select NP_001254479.2:p.Gln30075Arg
NM_003319.4:c.63029A>G (TTN) NP_003310.4:p.Gln21010Arg
NM_133378.4:c.82520A>G (TTN) NP_596869.4:p.Gln27507Arg
NM_133432.3:c.63404A>G (TTN) NP_597676.3:p.Gln21135Arg
NM_133437.4:c.63605A>G (TTN) NP_597681.4:p.Gln21202Arg
NR_038271.1:n.447-18624T>C (TTN-AS1)
NR_038272.1:n.2043+10315T>C (TTN-AS1)
XM_011511729.1:c.89321A>G (TTN) XP_011510031.1:p.Gln29774Arg
XM_011511730.1:c.63215A>G (TTN) XP_011510032.1:p.Gln21072Arg
XM_011511731.1:c.63074A>G (TTN) XP_011510033.1:p.Gln21025Arg
XM_017004819.1:c.89117A>G (TTN) XP_016860308.1:p.Gln29706Arg
XM_017004820.1:c.84515A>G (TTN) XP_016860309.1:p.Gln28172Arg
XM_017004821.1:c.84512A>G (TTN) XP_016860310.1:p.Gln28171Arg
XM_017004822.1:c.81554A>G (TTN) XP_016860311.1:p.Gln27185Arg
XM_017004823.1:c.63170A>G (TTN) XP_016860312.1:p.Gln21057Arg
XM_024453094.1:c.84665A>G (TTN) XP_024308862.1:p.Gln28222Arg
XM_024453095.1:c.84662A>G (TTN) XP_024308863.1:p.Gln28221Arg
XM_024453096.1:c.84095A>G (TTN) XP_024308864.1:p.Gln28032Arg
XM_024453097.1:c.81437A>G (TTN) XP_024308865.1:p.Gln27146Arg
XM_024453098.1:c.81356A>G (TTN) XP_024308866.1:p.Gln27119Arg
XM_024453099.1:c.63119A>G (TTN) XP_024308867.1:p.Gln21040Arg
XM_024453100.1:c.52973A>G (TTN) XP_024308868.1:p.Gln17658Arg