Canonical Allele Identifier: CA2662126189

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178546611-C-CG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178546613dup , CM000664.2:g.178546613dup	GRCh38
NC_000002.11:g.179411340dup , CM000664.1:g.179411340dup	GRCh37
NC_000002.10:g.179119586dup	NCBI36
NG_011618.3:g.289191dup , LRG_391:g.289191dup
NG_051363.1:g.28787dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.87112dup (TTN)	ENSP00000343764.6:p.Arg29038ProfsTer3
ENST00000342175.11:c.68197dup (TTN)	ENSP00000340554.6:p.Arg22733ProfsTer3
ENST00000359218.10:c.67996dup (TTN)	ENSP00000352154.5:p.Arg22666ProfsTer3
ENST00000342175.10:c.68197dup (TTN)	ENSP00000340554.6:p.Arg22733ProfsTer3
ENST00000342992.10:c.87112dup (TTN)	ENSP00000343764.6:p.Arg29038ProfsTer3
ENST00000359218.9:c.67996dup (TTN)	ENSP00000352154.5:p.Arg22666ProfsTer3
ENST00000460472.6:c.67621dup (TTN)	ENSP00000434586.1:p.Arg22541ProfsTer3
ENST00000589042.5:c.94816dup (TTN) MANE Select	ENSP00000467141.1:p.Arg31606ProfsTer3
ENST00000591111.5:c.89893dup (TTN)	ENSP00000465570.1:p.Arg29965ProfsTer3
ENST00000615779.4:c.89893dup (TTN)	ENSP00000483597.1:p.Arg29965ProfsTer3
NM_001256850.1:c.89893dup (TTN)	NP_001243779.1:p.Arg29965ProfsTer3
NM_001267550.2:c.94816dup (TTN) MANE Select	NP_001254479.2:p.Arg31606ProfsTer3
NM_003319.4:c.67621dup (TTN)	NP_003310.4:p.Arg22541ProfsTer3
NM_133378.4:c.87112dup (TTN)	NP_596869.4:p.Arg29038ProfsTer3
NM_133432.3:c.67996dup (TTN)	NP_597676.3:p.Arg22666ProfsTer3
NM_133437.4:c.68197dup (TTN)	NP_597681.4:p.Arg22733ProfsTer3
NR_038271.1:n.446+22977dup (TTN-AS1)
NR_038272.1:n.2043+4252dup (TTN-AS1)
XM_011511729.1:c.93913dup (TTN)	XP_011510031.1:p.Arg31305ProfsTer3
XM_011511730.1:c.67807dup (TTN)	XP_011510032.1:p.Arg22603ProfsTer3
XM_011511731.1:c.67666dup (TTN)	XP_011510033.1:p.Arg22556ProfsTer3
XM_017004819.1:c.93709dup (TTN)	XP_016860308.1:p.Arg31237ProfsTer3
XM_017004820.1:c.89107dup (TTN)	XP_016860309.1:p.Arg29703ProfsTer3
XM_017004821.1:c.89104dup (TTN)	XP_016860310.1:p.Arg29702ProfsTer3
XM_017004822.1:c.86146dup (TTN)	XP_016860311.1:p.Arg28716ProfsTer3
XM_017004823.1:c.67762dup (TTN)	XP_016860312.1:p.Arg22588ProfsTer3
XM_024453094.1:c.89257dup (TTN)	XP_024308862.1:p.Arg29753ProfsTer3
XM_024453095.1:c.89254dup (TTN)	XP_024308863.1:p.Arg29752ProfsTer3
XM_024453096.1:c.88687dup (TTN)	XP_024308864.1:p.Arg29563ProfsTer3
XM_024453097.1:c.86029dup (TTN)	XP_024308865.1:p.Arg28677ProfsTer3
XM_024453098.1:c.85948dup (TTN)	XP_024308866.1:p.Arg28650ProfsTer3
XM_024453099.1:c.67711dup (TTN)	XP_024308867.1:p.Arg22571ProfsTer3
XM_024453100.1:c.57565dup (TTN)	XP_024308868.1:p.Arg19189ProfsTer3