Canonical Allele Identifier: CA349544893

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 467581
• ClinVar RCV Id: RCV000552983
• dbSNP Id: rs1553561335
• gnomAD v4: 2-178559838-A-G
• COSMIC: COSM6205873 ; COSM6205874 ; COSM6205875 ; COSM6205876
• MyVariant Identifiers: chr2:g.179424565A>G (hg19) ; chr2:g.178559838A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178559838A>G , CM000664.2:g.178559838A>G	GRCh38
NC_000002.11:g.179424565A>G , CM000664.1:g.179424565A>G	GRCh37
NC_000002.10:g.179132811A>G	NCBI36
NG_011618.3:g.275965T>C , LRG_391:g.275965T>C
NG_051363.1:g.42012A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.78590T>C (TTN)	ENSP00000343764.6:p.Ile26197Thr
ENST00000342175.11:c.59675T>C (TTN)	ENSP00000340554.6:p.Ile19892Thr
ENST00000359218.10:c.59474T>C (TTN)	ENSP00000352154.5:p.Ile19825Thr
ENST00000342175.10:c.59675T>C (TTN)	ENSP00000340554.6:p.Ile19892Thr
ENST00000342992.10:c.78590T>C (TTN)	ENSP00000343764.6:p.Ile26197Thr
ENST00000359218.9:c.59474T>C (TTN)	ENSP00000352154.5:p.Ile19825Thr
ENST00000460472.6:c.59099T>C (TTN)	ENSP00000434586.1:p.Ile19700Thr
ENST00000589042.5:c.86294T>C (TTN) MANE Select	ENSP00000467141.1:p.Ile28765Thr
ENST00000591111.5:c.81371T>C (TTN)	ENSP00000465570.1:p.Ile27124Thr
ENST00000615779.4:c.81371T>C (TTN)	ENSP00000483597.1:p.Ile27124Thr
NM_001256850.1:c.81371T>C (TTN)	NP_001243779.1:p.Ile27124Thr
NM_001267550.2:c.86294T>C (TTN) MANE Select	NP_001254479.2:p.Ile28765Thr
NM_003319.4:c.59099T>C (TTN)	NP_003310.4:p.Ile19700Thr
NM_133378.4:c.78590T>C (TTN)	NP_596869.4:p.Ile26197Thr
NM_133432.3:c.59474T>C (TTN)	NP_597676.3:p.Ile19825Thr
NM_133437.4:c.59675T>C (TTN)	NP_597681.4:p.Ile19892Thr
NR_038271.1:n.447-11462A>G (TTN-AS1)
NR_038272.1:n.2043+17477A>G (TTN-AS1)
XM_011511729.1:c.85391T>C (TTN)	XP_011510031.1:p.Ile28464Thr
XM_011511730.1:c.59285T>C (TTN)	XP_011510032.1:p.Ile19762Thr
XM_011511731.1:c.59144T>C (TTN)	XP_011510033.1:p.Ile19715Thr
XM_017004819.1:c.85187T>C (TTN)	XP_016860308.1:p.Ile28396Thr
XM_017004820.1:c.80585T>C (TTN)	XP_016860309.1:p.Ile26862Thr
XM_017004821.1:c.80582T>C (TTN)	XP_016860310.1:p.Ile26861Thr
XM_017004822.1:c.77624T>C (TTN)	XP_016860311.1:p.Ile25875Thr
XM_017004823.1:c.59240T>C (TTN)	XP_016860312.1:p.Ile19747Thr
XM_024453094.1:c.80735T>C (TTN)	XP_024308862.1:p.Ile26912Thr
XM_024453095.1:c.80732T>C (TTN)	XP_024308863.1:p.Ile26911Thr
XM_024453096.1:c.80165T>C (TTN)	XP_024308864.1:p.Ile26722Thr
XM_024453097.1:c.77507T>C (TTN)	XP_024308865.1:p.Ile25836Thr
XM_024453098.1:c.77426T>C (TTN)	XP_024308866.1:p.Ile25809Thr
XM_024453099.1:c.59189T>C (TTN)	XP_024308867.1:p.Ile19730Thr
XM_024453100.1:c.49043T>C (TTN)	XP_024308868.1:p.Ile16348Thr