Canonical Allele Identifier: CA2662127127

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 2953162
• ClinVar RCV Id: RCV003810280
• gnomAD v4: 2-178551622-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178551622T>A , CM000664.2:g.178551622T>A	GRCh38
NC_000002.11:g.179416349T>A , CM000664.1:g.179416349T>A	GRCh37
NC_000002.10:g.179124595T>A	NCBI36
NG_011618.3:g.284181A>T , LRG_391:g.284181A>T
NG_051363.1:g.33796T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.83566+8A>T (TTN)	ENSP00000343764.6:n.83566+8A>T
ENST00000342175.11:c.64651+8A>T (TTN)	ENSP00000340554.6:n.64651+8A>T
ENST00000359218.10:c.64450+8A>T (TTN)	ENSP00000352154.5:n.64450+8A>T
ENST00000342175.10:c.64651+8A>T (TTN)	ENSP00000340554.6:n.64651+8A>T
ENST00000342992.10:c.83566+8A>T (TTN)	ENSP00000343764.6:n.83566+8A>T
ENST00000359218.9:c.64450+8A>T (TTN)	ENSP00000352154.5:n.64450+8A>T
ENST00000460472.6:c.64075+8A>T (TTN)	ENSP00000434586.1:n.64075+8A>T
ENST00000589042.5:c.91270+8A>T (TTN) MANE Select	ENSP00000467141.1:n.91270+8A>T
ENST00000591111.5:c.86347+8A>T (TTN)	ENSP00000465570.1:n.86347+8A>T
ENST00000615779.4:c.86347+8A>T (TTN)	ENSP00000483597.1:n.86347+8A>T
NM_001256850.1:c.86347+8A>T (TTN)	NP_001243779.1:n.86347+8A>T
NM_001267550.2:c.91270+8A>T (TTN) MANE Select	NP_001254479.2:n.91270+8A>T
NM_003319.4:c.64075+8A>T (TTN)	NP_003310.4:n.64075+8A>T
NM_133378.4:c.83566+8A>T (TTN)	NP_596869.4:n.83566+8A>T
NM_133432.3:c.64450+8A>T (TTN)	NP_597676.3:n.64450+8A>T
NM_133437.4:c.64651+8A>T (TTN)	NP_597681.4:n.64651+8A>T
NR_038271.1:n.447-19678T>A (TTN-AS1)
NR_038272.1:n.2043+9261T>A (TTN-AS1)
XM_011511729.1:c.90367+8A>T (TTN)	XP_011510031.1:n.90367+8A>T
XM_011511730.1:c.64261+8A>T (TTN)	XP_011510032.1:n.64261+8A>T
XM_011511731.1:c.64120+8A>T (TTN)	XP_011510033.1:n.64120+8A>T
XM_017004819.1:c.90163+8A>T (TTN)	XP_016860308.1:n.90163+8A>T
XM_017004820.1:c.85561+8A>T (TTN)	XP_016860309.1:n.85561+8A>T
XM_017004821.1:c.85558+8A>T (TTN)	XP_016860310.1:n.85558+8A>T
XM_017004822.1:c.82600+8A>T (TTN)	XP_016860311.1:n.82600+8A>T
XM_017004823.1:c.64216+8A>T (TTN)	XP_016860312.1:n.64216+8A>T
XM_024453094.1:c.85711+8A>T (TTN)	XP_024308862.1:n.85711+8A>T
XM_024453095.1:c.85708+8A>T (TTN)	XP_024308863.1:n.85708+8A>T
XM_024453096.1:c.85141+8A>T (TTN)	XP_024308864.1:n.85141+8A>T
XM_024453097.1:c.82483+8A>T (TTN)	XP_024308865.1:n.82483+8A>T
XM_024453098.1:c.82402+8A>T (TTN)	XP_024308866.1:n.82402+8A>T
XM_024453099.1:c.64165+8A>T (TTN)	XP_024308867.1:n.64165+8A>T
XM_024453100.1:c.54019+8A>T (TTN)	XP_024308868.1:n.54019+8A>T