Canonical Allele Identifier: CA1310521548

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544365T= , CM000664.2:g.178544365T= GRCh38
NC_000002.11:g.179409092T= , CM000664.1:g.179409092T= GRCh37
NC_000002.10:g.179117338T= NCBI36
NG_011618.3:g.291438A= , LRG_391:g.291438A=
NG_051363.1:g.26539T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88160A= (TTN) ENSP00000343764.6:p.Gln29387=
ENST00000342175.11:c.69245A= (TTN) ENSP00000340554.6:p.Gln23082=
ENST00000359218.10:c.69044A= (TTN) ENSP00000352154.5:p.Gln23015=
ENST00000342175.10:c.69245A= (TTN) ENSP00000340554.6:p.Gln23082=
ENST00000342992.10:c.88160A= (TTN) ENSP00000343764.6:p.Gln29387=
ENST00000359218.9:c.69044A= (TTN) ENSP00000352154.5:p.Gln23015=
ENST00000460472.6:c.68669A= (TTN) ENSP00000434586.1:p.Gln22890=
ENST00000589042.5:c.95864A= (TTN) MANE Select ENSP00000467141.1:p.Gln31955=
ENST00000591111.5:c.90941A= (TTN) ENSP00000465570.1:p.Gln30314=
ENST00000615779.4:c.90941A= (TTN) ENSP00000483597.1:p.Gln30314=
NM_001256850.1:c.90941A= (TTN) NP_001243779.1:p.Gln30314=
NM_001267550.2:c.95864A= (TTN) MANE Select NP_001254479.2:p.Gln31955=
NM_003319.4:c.68669A= (TTN) NP_003310.4:p.Gln22890=
NM_133378.4:c.88160A= (TTN) NP_596869.4:p.Gln29387=
NM_133432.3:c.69044A= (TTN) NP_597676.3:p.Gln23015=
NM_133437.4:c.69245A= (TTN) NP_597681.4:p.Gln23082=
NR_038271.1:n.446+20729T= (TTN-AS1)
NR_038272.1:n.2043+2004T= (TTN-AS1)
XM_011511729.1:c.94961A= (TTN) XP_011510031.1:p.Gln31654=
XM_011511730.1:c.68855A= (TTN) XP_011510032.1:p.Gln22952=
XM_011511731.1:c.68714A= (TTN) XP_011510033.1:p.Gln22905=
XM_017004819.1:c.94757A= (TTN) XP_016860308.1:p.Gln31586=
XM_017004820.1:c.90155A= (TTN) XP_016860309.1:p.Gln30052=
XM_017004821.1:c.90152A= (TTN) XP_016860310.1:p.Gln30051=
XM_017004822.1:c.87194A= (TTN) XP_016860311.1:p.Gln29065=
XM_017004823.1:c.68810A= (TTN) XP_016860312.1:p.Gln22937=
XM_024453094.1:c.90305A= (TTN) XP_024308862.1:p.Gln30102=
XM_024453095.1:c.90302A= (TTN) XP_024308863.1:p.Gln30101=
XM_024453096.1:c.89735A= (TTN) XP_024308864.1:p.Gln29912=
XM_024453097.1:c.87077A= (TTN) XP_024308865.1:p.Gln29026=
XM_024453098.1:c.86996A= (TTN) XP_024308866.1:p.Gln28999=
XM_024453099.1:c.68759A= (TTN) XP_024308867.1:p.Gln22920=
XM_024453100.1:c.58613A= (TTN) XP_024308868.1:p.Gln19538=