Canonical Allele Identifier: CA1986112
Community Standard Title: NM_001267550.2(TTN):c.99900C>T (p.Ile33300=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178537209G>A , CM000664.2:g.178537209G>A GRCh38
NC_000002.11:g.179401936G>A , CM000664.1:g.179401936G>A GRCh37
NC_000002.10:g.179110182G>A NCBI36
NG_011618.3:g.298594C>T , LRG_391:g.298594C>T
NG_051363.1:g.19383G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.99900C>T (TTN) MANE Select NP_001254479.2:p.Ile33300=
ENST00000589042.5:c.99900C>T (TTN) MANE Select ENSP00000467141.1:p.Ile33300=
NM_001256850.1:c.94977C>T (TTN) NP_001243779.1:p.Ile31659=
NM_003319.4:c.72705C>T (TTN) NP_003310.4:p.Ile24235=
NM_133378.4:c.92196C>T (TTN) NP_596869.4:p.Ile30732=
NM_133432.3:c.73080C>T (TTN) NP_597676.3:p.Ile24360=
NM_133437.4:c.73281C>T (TTN) NP_597681.4:p.Ile24427=
NR_038271.1:n.446+13573G>A (TTN-AS1)
NR_038272.1:n.317-152G>A (TTN-AS1)
ENST00000342175.10:c.73281C>T (TTN) ENSP00000340554.6:p.Ile24427=
ENST00000342175.11:c.73281C>T (TTN) ENSP00000340554.6:p.Ile24427=
ENST00000342992.10:c.92196C>T (TTN) ENSP00000343764.6:p.Ile30732=
ENST00000342992.11:c.92196C>T (TTN) ENSP00000343764.6:p.Ile30732=
ENST00000359218.10:c.73080C>T (TTN) ENSP00000352154.5:p.Ile24360=
ENST00000359218.9:c.73080C>T (TTN) ENSP00000352154.5:p.Ile24360=
ENST00000460472.6:c.72705C>T (TTN) ENSP00000434586.1:p.Ile24235=
ENST00000591111.5:c.94977C>T (TTN) ENSP00000465570.1:p.Ile31659=
ENST00000615779.4:c.94977C>T (TTN) ENSP00000483597.1:p.Ile31659=
XM_011511729.1:c.98997C>T (TTN) XP_011510031.1:p.Ile32999=
XM_011511730.1:c.72891C>T (TTN) XP_011510032.1:p.Ile24297=
XM_011511731.1:c.72750C>T (TTN) XP_011510033.1:p.Ile24250=
XM_017004819.1:c.98793C>T (TTN) XP_016860308.1:p.Ile32931=
XM_017004820.1:c.94191C>T (TTN) XP_016860309.1:p.Ile31397=
XM_017004821.1:c.94188C>T (TTN) XP_016860310.1:p.Ile31396=
XM_017004822.1:c.91230C>T (TTN) XP_016860311.1:p.Ile30410=
XM_017004823.1:c.72846C>T (TTN) XP_016860312.1:p.Ile24282=
XM_024453094.1:c.94341C>T (TTN) XP_024308862.1:p.Ile31447=
XM_024453095.1:c.94338C>T (TTN) XP_024308863.1:p.Ile31446=
XM_024453096.1:c.93771C>T (TTN) XP_024308864.1:p.Ile31257=
XM_024453097.1:c.91113C>T (TTN) XP_024308865.1:p.Ile30371=
XM_024453098.1:c.91032C>T (TTN) XP_024308866.1:p.Ile30344=
XM_024453099.1:c.72795C>T (TTN) XP_024308867.1:p.Ile24265=
XM_024453100.1:c.62649C>T (TTN) XP_024308868.1:p.Ile20883=