Canonical Allele Identifier: CA1984864

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178527114G>A , CM000664.2:g.178527114G>A GRCh38
NC_000002.11:g.179391841G>A , CM000664.1:g.179391841G>A GRCh37
NC_000002.10:g.179100087G>A NCBI36
NG_011618.3:g.308689C>T , LRG_391:g.308689C>T
NG_051363.1:g.9288G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.100170C>T (TTN) ENSP00000343764.6:p.Ile33390=
ENST00000342175.11:c.81255C>T (TTN) ENSP00000340554.6:p.Ile27085=
ENST00000359218.10:c.81054C>T (TTN) ENSP00000352154.5:p.Ile27018=
ENST00000342175.10:c.81255C>T (TTN) ENSP00000340554.6:p.Ile27085=
ENST00000342992.10:c.100170C>T (TTN) ENSP00000343764.6:p.Ile33390=
ENST00000359218.9:c.81054C>T (TTN) ENSP00000352154.5:p.Ile27018=
ENST00000460472.6:c.80679C>T (TTN) ENSP00000434586.1:p.Ile26893=
ENST00000589042.5:c.107874C>T (TTN) MANE Select ENSP00000467141.1:p.Ile35958=
ENST00000591111.5:c.102951C>T (TTN) ENSP00000465570.1:p.Ile34317=
ENST00000615779.4:c.102951C>T (TTN) ENSP00000483597.1:p.Ile34317=
NM_001256850.1:c.102951C>T (TTN) NP_001243779.1:p.Ile34317=
NM_001267550.2:c.107874C>T (TTN) MANE Select NP_001254479.2:p.Ile35958=
NM_003319.4:c.80679C>T (TTN) NP_003310.4:p.Ile26893=
NM_133378.4:c.100170C>T (TTN) NP_596869.4:p.Ile33390=
NM_133432.3:c.81054C>T (TTN) NP_597676.3:p.Ile27018=
NM_133437.4:c.81255C>T (TTN) NP_597681.4:p.Ile27085=
NR_038271.1:n.446+3478G>A (TTN-AS1)
NR_038272.1:n.219+3478G>A (TTN-AS1)
XM_011511729.1:c.106971C>T (TTN) XP_011510031.1:p.Ile35657=
XM_011511730.1:c.80865C>T (TTN) XP_011510032.1:p.Ile26955=
XM_011511731.1:c.80724C>T (TTN) XP_011510033.1:p.Ile26908=
XM_017004819.1:c.106767C>T (TTN) XP_016860308.1:p.Ile35589=
XM_017004820.1:c.102165C>T (TTN) XP_016860309.1:p.Ile34055=
XM_017004821.1:c.102162C>T (TTN) XP_016860310.1:p.Ile34054=
XM_017004822.1:c.99204C>T (TTN) XP_016860311.1:p.Ile33068=
XM_017004823.1:c.80820C>T (TTN) XP_016860312.1:p.Ile26940=
XM_024453094.1:c.102315C>T (TTN) XP_024308862.1:p.Ile34105=
XM_024453095.1:c.102312C>T (TTN) XP_024308863.1:p.Ile34104=
XM_024453096.1:c.101745C>T (TTN) XP_024308864.1:p.Ile33915=
XM_024453097.1:c.99087C>T (TTN) XP_024308865.1:p.Ile33029=
XM_024453098.1:c.99006C>T (TTN) XP_024308866.1:p.Ile33002=
XM_024453099.1:c.80769C>T (TTN) XP_024308867.1:p.Ile26923=
XM_024453100.1:c.70623C>T (TTN) XP_024308868.1:p.Ile23541=