Canonical Allele Identifier: CA2573051783

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 1310611
• ClinVar RCV Id: RCV001767725
• dbSNP Id: rs2154185312

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178591974T>C , CM000664.2:g.178591974T>C	GRCh38
NC_000002.11:g.179456701T>C , CM000664.1:g.179456701T>C	GRCh37
NC_000002.10:g.179164947T>C	NCBI36
NG_011618.3:g.243829A>G , LRG_391:g.243829A>G
NG_051363.1:g.74148T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.52222+4A>G (TTN)	ENSP00000343764.6:n.52222+4A>G
ENST00000342175.11:c.33307+4A>G (TTN)	ENSP00000340554.6:n.33307+4A>G
ENST00000359218.10:c.33106+4A>G (TTN)	ENSP00000352154.5:n.33106+4A>G
ENST00000342175.10:c.33307+4A>G (TTN)	ENSP00000340554.6:n.33307+4A>G
ENST00000342992.10:c.52222+4A>G (TTN)	ENSP00000343764.6:n.52222+4A>G
ENST00000359218.9:c.33106+4A>G (TTN)	ENSP00000352154.5:n.33106+4A>G
ENST00000460472.6:c.32731+4A>G (TTN)	ENSP00000434586.1:n.32731+4A>G
ENST00000589042.5:c.59926+4A>G (TTN) MANE Select	ENSP00000467141.1:n.59926+4A>G
ENST00000591111.5:c.55003+4A>G (TTN)	ENSP00000465570.1:n.55003+4A>G
ENST00000615779.4:c.55003+4A>G (TTN)	ENSP00000483597.1:n.55003+4A>G
NM_001256850.1:c.55003+4A>G (TTN)	NP_001243779.1:n.55003+4A>G
NM_001267550.2:c.59926+4A>G (TTN) MANE Select	NP_001254479.2:n.59926+4A>G
NM_003319.4:c.32731+4A>G (TTN)	NP_003310.4:n.32731+4A>G
NM_133378.4:c.52222+4A>G (TTN)	NP_596869.4:n.52222+4A>G
NM_133432.3:c.33106+4A>G (TTN)	NP_597676.3:n.33106+4A>G
NM_133437.4:c.33307+4A>G (TTN)	NP_597681.4:n.33307+4A>G
NR_038271.1:n.597-5622T>C (TTN-AS1)
NR_038272.1:n.3364+660T>C (TTN-AS1)
XM_011511729.1:c.59023+4A>G (TTN)	XP_011510031.1:n.59023+4A>G
XM_011511730.1:c.32917+4A>G (TTN)	XP_011510032.1:n.32917+4A>G
XM_011511731.1:c.32776+4A>G (TTN)	XP_011510033.1:n.32776+4A>G
XM_017004819.1:c.58819+4A>G (TTN)	XP_016860308.1:n.58819+4A>G
XM_017004820.1:c.54217+4A>G (TTN)	XP_016860309.1:n.54217+4A>G
XM_017004821.1:c.54214+4A>G (TTN)	XP_016860310.1:n.54214+4A>G
XM_017004822.1:c.51256+4A>G (TTN)	XP_016860311.1:n.51256+4A>G
XM_017004823.1:c.32872+4A>G (TTN)	XP_016860312.1:n.32872+4A>G
XM_024453094.1:c.54367+4A>G (TTN)	XP_024308862.1:n.54367+4A>G
XM_024453095.1:c.54364+4A>G (TTN)	XP_024308863.1:n.54364+4A>G
XM_024453096.1:c.53797+4A>G (TTN)	XP_024308864.1:n.53797+4A>G
XM_024453097.1:c.51139+4A>G (TTN)	XP_024308865.1:n.51139+4A>G
XM_024453098.1:c.51058+4A>G (TTN)	XP_024308866.1:n.51058+4A>G
XM_024453099.1:c.32821+4A>G (TTN)	XP_024308867.1:n.32821+4A>G
XM_024453100.1:c.22675+4A>G (TTN)	XP_024308868.1:n.22675+4A>G