Canonical Allele Identifier: CA2580614427

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 2123805
• ClinVar RCV Id: RCV003035597

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178546679_178546680dup , CM000664.2:g.178546679_178546680dup	GRCh38
NC_000002.11:g.179411406_179411407dup , CM000664.1:g.179411406_179411407dup	GRCh37
NC_000002.10:g.179119652_179119653dup	NCBI36
NG_011618.3:g.289127_289128dup , LRG_391:g.289127_289128dup
NG_051363.1:g.28853_28854dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.87048_87049dup (TTN)	ENSP00000343764.6:p.Leu29017CysfsTer2
ENST00000342175.11:c.68133_68134dup (TTN)	ENSP00000340554.6:p.Leu22712CysfsTer2
ENST00000359218.10:c.67932_67933dup (TTN)	ENSP00000352154.5:p.Leu22645CysfsTer2
ENST00000342175.10:c.68133_68134dup (TTN)	ENSP00000340554.6:p.Leu22712CysfsTer2
ENST00000342992.10:c.87048_87049dup (TTN)	ENSP00000343764.6:p.Leu29017CysfsTer2
ENST00000359218.9:c.67932_67933dup (TTN)	ENSP00000352154.5:p.Leu22645CysfsTer2
ENST00000460472.6:c.67557_67558dup (TTN)	ENSP00000434586.1:p.Leu22520CysfsTer2
ENST00000589042.5:c.94752_94753dup (TTN) MANE Select	ENSP00000467141.1:p.Leu31585CysfsTer2
ENST00000591111.5:c.89829_89830dup (TTN)	ENSP00000465570.1:p.Leu29944CysfsTer2
ENST00000615779.4:c.89829_89830dup (TTN)	ENSP00000483597.1:p.Leu29944CysfsTer2
NM_001256850.1:c.89829_89830dup (TTN)	NP_001243779.1:p.Leu29944CysfsTer2
NM_001267550.2:c.94752_94753dup (TTN) MANE Select	NP_001254479.2:p.Leu31585CysfsTer2
NM_003319.4:c.67557_67558dup (TTN)	NP_003310.4:p.Leu22520CysfsTer2
NM_133378.4:c.87048_87049dup (TTN)	NP_596869.4:p.Leu29017CysfsTer2
NM_133432.3:c.67932_67933dup (TTN)	NP_597676.3:p.Leu22645CysfsTer2
NM_133437.4:c.68133_68134dup (TTN)	NP_597681.4:p.Leu22712CysfsTer2
NR_038271.1:n.446+23043_446+23044dup (TTN-AS1)
NR_038272.1:n.2043+4318_2043+4319dup (TTN-AS1)
XM_011511729.1:c.93849_93850dup (TTN)	XP_011510031.1:p.Leu31284CysfsTer2
XM_011511730.1:c.67743_67744dup (TTN)	XP_011510032.1:p.Leu22582CysfsTer2
XM_011511731.1:c.67602_67603dup (TTN)	XP_011510033.1:p.Leu22535CysfsTer2
XM_017004819.1:c.93645_93646dup (TTN)	XP_016860308.1:p.Leu31216CysfsTer2
XM_017004820.1:c.89043_89044dup (TTN)	XP_016860309.1:p.Leu29682CysfsTer2
XM_017004821.1:c.89040_89041dup (TTN)	XP_016860310.1:p.Leu29681CysfsTer2
XM_017004822.1:c.86082_86083dup (TTN)	XP_016860311.1:p.Leu28695CysfsTer2
XM_017004823.1:c.67698_67699dup (TTN)	XP_016860312.1:p.Leu22567CysfsTer2
XM_024453094.1:c.89193_89194dup (TTN)	XP_024308862.1:p.Leu29732CysfsTer2
XM_024453095.1:c.89190_89191dup (TTN)	XP_024308863.1:p.Leu29731CysfsTer2
XM_024453096.1:c.88623_88624dup (TTN)	XP_024308864.1:p.Leu29542CysfsTer2
XM_024453097.1:c.85965_85966dup (TTN)	XP_024308865.1:p.Leu28656CysfsTer2
XM_024453098.1:c.85884_85885dup (TTN)	XP_024308866.1:p.Leu28629CysfsTer2
XM_024453099.1:c.67647_67648dup (TTN)	XP_024308867.1:p.Leu22550CysfsTer2
XM_024453100.1:c.57501_57502dup (TTN)	XP_024308868.1:p.Leu19168CysfsTer2