Canonical Allele Identifier: CA3097388644
Community Standard Title: NM_001267550.2(TTN):c.48777C= (p.Phe16259=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178614737G= , CM000664.2:g.178614737G= GRCh38
NC_000002.11:g.179479464G= , CM000664.1:g.179479464G= GRCh37
NC_000002.10:g.179187709G= NCBI36
NG_011618.3:g.221066C= , LRG_391:g.221066C=
NG_051363.1:g.96911G=

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.48777C= (TTN) MANE Select NP_001254479.2:p.Phe16259=
ENST00000589042.5:c.48777C= (TTN) MANE Select ENSP00000467141.1:p.Phe16259=
NM_001256850.1:c.43854C= (TTN) NP_001243779.1:p.Phe14618=
NM_003319.4:c.21582C= (TTN) NP_003310.4:p.Phe7194=
NM_133378.4:c.41073C= (TTN) NP_596869.4:p.Phe13691=
NM_133432.3:c.21957C= (TTN) NP_597676.3:p.Phe7319=
NM_133437.4:c.22158C= (TTN) NP_597681.4:p.Phe7386=
NR_038271.1:n.1485G= (TTN-AS1)
ENST00000342175.10:c.22158C= (TTN) ENSP00000340554.6:p.Phe7386=
ENST00000342175.11:c.22158C= (TTN) ENSP00000340554.6:p.Phe7386=
ENST00000342992.10:c.41073C= (TTN) ENSP00000343764.6:p.Phe13691=
ENST00000342992.11:c.41073C= (TTN) ENSP00000343764.6:p.Phe13691=
ENST00000359218.10:c.21957C= (TTN) ENSP00000352154.5:p.Phe7319=
ENST00000359218.9:c.21957C= (TTN) ENSP00000352154.5:p.Phe7319=
ENST00000460472.6:c.21582C= (TTN) ENSP00000434586.1:p.Phe7194=
ENST00000591111.5:c.43854C= (TTN) ENSP00000465570.1:p.Phe14618=
ENST00000615779.4:c.43854C= (TTN) ENSP00000483597.1:p.Phe14618=
XM_011511729.1:c.47874C= (TTN) XP_011510031.1:p.Phe15958=
XM_011511730.1:c.21768C= (TTN) XP_011510032.1:p.Phe7256=
XM_011511731.1:c.21627C= (TTN) XP_011510033.1:p.Phe7209=
XM_017004819.1:c.47670C= (TTN) XP_016860308.1:p.Phe15890=
XM_017004820.1:c.43068C= (TTN) XP_016860309.1:p.Phe14356=
XM_017004821.1:c.43065C= (TTN) XP_016860310.1:p.Phe14355=
XM_017004822.1:c.40107C= (TTN) XP_016860311.1:p.Phe13369=
XM_017004823.1:c.21723C= (TTN) XP_016860312.1:p.Phe7241=
XM_024453094.1:c.43218C= (TTN) XP_024308862.1:p.Phe14406=
XM_024453095.1:c.43215C= (TTN) XP_024308863.1:p.Phe14405=
XM_024453096.1:c.42648C= (TTN) XP_024308864.1:p.Phe14216=
XM_024453097.1:c.39990C= (TTN) XP_024308865.1:p.Phe13330=
XM_024453098.1:c.39909C= (TTN) XP_024308866.1:p.Phe13303=
XM_024453099.1:c.21672C= (TTN) XP_024308867.1:p.Phe7224=
XM_024453100.1:c.11526C= (TTN) XP_024308868.1:p.Phe3842=