Canonical Allele Identifier: CA1310508305

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178527622A= , CM000664.2:g.178527622A= GRCh38
NC_000002.11:g.179392349A= , CM000664.1:g.179392349A= GRCh37
NC_000002.10:g.179100595A= NCBI36
NG_011618.3:g.308181T= , LRG_391:g.308181T=
NG_051363.1:g.9796A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.99800T= (TTN) ENSP00000343764.6:p.Phe33267=
ENST00000342175.11:c.80885T= (TTN) ENSP00000340554.6:p.Phe26962=
ENST00000359218.10:c.80684T= (TTN) ENSP00000352154.5:p.Phe26895=
ENST00000342175.10:c.80885T= (TTN) ENSP00000340554.6:p.Phe26962=
ENST00000342992.10:c.99800T= (TTN) ENSP00000343764.6:p.Phe33267=
ENST00000359218.9:c.80684T= (TTN) ENSP00000352154.5:p.Phe26895=
ENST00000460472.6:c.80309T= (TTN) ENSP00000434586.1:p.Phe26770=
ENST00000589042.5:c.107504T= (TTN) MANE Select ENSP00000467141.1:p.Phe35835=
ENST00000591111.5:c.102581T= (TTN) ENSP00000465570.1:p.Phe34194=
ENST00000615779.4:c.102581T= (TTN) ENSP00000483597.1:p.Phe34194=
NM_001256850.1:c.102581T= (TTN) NP_001243779.1:p.Phe34194=
NM_001267550.2:c.107504T= (TTN) MANE Select NP_001254479.2:p.Phe35835=
NM_003319.4:c.80309T= (TTN) NP_003310.4:p.Phe26770=
NM_133378.4:c.99800T= (TTN) NP_596869.4:p.Phe33267=
NM_133432.3:c.80684T= (TTN) NP_597676.3:p.Phe26895=
NM_133437.4:c.80885T= (TTN) NP_597681.4:p.Phe26962=
NR_038271.1:n.446+3986A= (TTN-AS1)
NR_038272.1:n.219+3986A= (TTN-AS1)
XM_011511729.1:c.106601T= (TTN) XP_011510031.1:p.Phe35534=
XM_011511730.1:c.80495T= (TTN) XP_011510032.1:p.Phe26832=
XM_011511731.1:c.80354T= (TTN) XP_011510033.1:p.Phe26785=
XM_017004819.1:c.106397T= (TTN) XP_016860308.1:p.Phe35466=
XM_017004820.1:c.101795T= (TTN) XP_016860309.1:p.Phe33932=
XM_017004821.1:c.101792T= (TTN) XP_016860310.1:p.Phe33931=
XM_017004822.1:c.98834T= (TTN) XP_016860311.1:p.Phe32945=
XM_017004823.1:c.80450T= (TTN) XP_016860312.1:p.Phe26817=
XM_024453094.1:c.101945T= (TTN) XP_024308862.1:p.Phe33982=
XM_024453095.1:c.101942T= (TTN) XP_024308863.1:p.Phe33981=
XM_024453096.1:c.101375T= (TTN) XP_024308864.1:p.Phe33792=
XM_024453097.1:c.98717T= (TTN) XP_024308865.1:p.Phe32906=
XM_024453098.1:c.98636T= (TTN) XP_024308866.1:p.Phe32879=
XM_024453099.1:c.80399T= (TTN) XP_024308867.1:p.Phe26800=
XM_024453100.1:c.70253T= (TTN) XP_024308868.1:p.Phe23418=