Canonical Allele Identifier: CA349585617

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178609968-A-G
• MyVariant Identifiers: chr2:g.179474695A>G (hg19) ; chr2:g.178609968A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178609968A>G , CM000664.2:g.178609968A>G	GRCh38
NC_000002.11:g.179474695A>G , CM000664.1:g.179474695A>G	GRCh37
NC_000002.10:g.179182940A>G	NCBI36
NG_011618.3:g.225835T>C , LRG_391:g.225835T>C
NG_051363.1:g.92142A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.43751T>C (TTN)	ENSP00000343764.6:p.Val14584Ala
ENST00000342175.11:c.24836T>C (TTN)	ENSP00000340554.6:p.Val8279Ala
ENST00000359218.10:c.24635T>C (TTN)	ENSP00000352154.5:p.Val8212Ala
ENST00000342175.10:c.24836T>C (TTN)	ENSP00000340554.6:p.Val8279Ala
ENST00000342992.10:c.43751T>C (TTN)	ENSP00000343764.6:p.Val14584Ala
ENST00000359218.9:c.24635T>C (TTN)	ENSP00000352154.5:p.Val8212Ala
ENST00000460472.6:c.24260T>C (TTN)	ENSP00000434586.1:p.Val8087Ala
ENST00000589042.5:c.51455T>C (TTN) MANE Select	ENSP00000467141.1:p.Val17152Ala
ENST00000591111.5:c.46532T>C (TTN)	ENSP00000465570.1:p.Val15511Ala
ENST00000615779.4:c.46532T>C (TTN)	ENSP00000483597.1:p.Val15511Ala
NM_001256850.1:c.46532T>C (TTN)	NP_001243779.1:p.Val15511Ala
NM_001267550.2:c.51455T>C (TTN) MANE Select	NP_001254479.2:p.Val17152Ala
NM_003319.4:c.24260T>C (TTN)	NP_003310.4:p.Val8087Ala
NM_133378.4:c.43751T>C (TTN)	NP_596869.4:p.Val14584Ala
NM_133432.3:c.24635T>C (TTN)	NP_597676.3:p.Val8212Ala
NM_133437.4:c.24836T>C (TTN)	NP_597681.4:p.Val8279Ala
NR_038271.1:n.782+1702A>G (TTN-AS1)
XM_011511729.1:c.50552T>C (TTN)	XP_011510031.1:p.Val16851Ala
XM_011511730.1:c.24446T>C (TTN)	XP_011510032.1:p.Val8149Ala
XM_011511731.1:c.24305T>C (TTN)	XP_011510033.1:p.Val8102Ala
XM_017004819.1:c.50348T>C (TTN)	XP_016860308.1:p.Val16783Ala
XM_017004820.1:c.45746T>C (TTN)	XP_016860309.1:p.Val15249Ala
XM_017004821.1:c.45743T>C (TTN)	XP_016860310.1:p.Val15248Ala
XM_017004822.1:c.42785T>C (TTN)	XP_016860311.1:p.Val14262Ala
XM_017004823.1:c.24401T>C (TTN)	XP_016860312.1:p.Val8134Ala
XM_024453094.1:c.45896T>C (TTN)	XP_024308862.1:p.Val15299Ala
XM_024453095.1:c.45893T>C (TTN)	XP_024308863.1:p.Val15298Ala
XM_024453096.1:c.45326T>C (TTN)	XP_024308864.1:p.Val15109Ala
XM_024453097.1:c.42668T>C (TTN)	XP_024308865.1:p.Val14223Ala
XM_024453098.1:c.42587T>C (TTN)	XP_024308866.1:p.Val14196Ala
XM_024453099.1:c.24350T>C (TTN)	XP_024308867.1:p.Val8117Ala
XM_024453100.1:c.14204T>C (TTN)	XP_024308868.1:p.Val4735Ala