Canonical Allele Identifier: CA349494224

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179457514T>G (hg19) ; chr2:g.178592787T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178592787T>G , CM000664.2:g.178592787T>G	GRCh38
NC_000002.11:g.179457514T>G , CM000664.1:g.179457514T>G	GRCh37
NC_000002.10:g.179165760T>G	NCBI36
NG_011618.3:g.243016A>C , LRG_391:g.243016A>C
NG_051363.1:g.74961T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.51628A>C (TTN)	ENSP00000343764.6:p.Lys17210Gln
ENST00000342175.11:c.32713A>C (TTN)	ENSP00000340554.6:p.Lys10905Gln
ENST00000359218.10:c.32512A>C (TTN)	ENSP00000352154.5:p.Lys10838Gln
ENST00000342175.10:c.32713A>C (TTN)	ENSP00000340554.6:p.Lys10905Gln
ENST00000342992.10:c.51628A>C (TTN)	ENSP00000343764.6:p.Lys17210Gln
ENST00000359218.9:c.32512A>C (TTN)	ENSP00000352154.5:p.Lys10838Gln
ENST00000460472.6:c.32137A>C (TTN)	ENSP00000434586.1:p.Lys10713Gln
ENST00000589042.5:c.59332A>C (TTN) MANE Select	ENSP00000467141.1:p.Lys19778Gln
ENST00000591111.5:c.54409A>C (TTN)	ENSP00000465570.1:p.Lys18137Gln
ENST00000615779.4:c.54409A>C (TTN)	ENSP00000483597.1:p.Lys18137Gln
NM_001256850.1:c.54409A>C (TTN)	NP_001243779.1:p.Lys18137Gln
NM_001267550.2:c.59332A>C (TTN) MANE Select	NP_001254479.2:p.Lys19778Gln
NM_003319.4:c.32137A>C (TTN)	NP_003310.4:p.Lys10713Gln
NM_133378.4:c.51628A>C (TTN)	NP_596869.4:p.Lys17210Gln
NM_133432.3:c.32512A>C (TTN)	NP_597676.3:p.Lys10838Gln
NM_133437.4:c.32713A>C (TTN)	NP_597681.4:p.Lys10905Gln
NR_038271.1:n.597-4809T>G (TTN-AS1)
NR_038272.1:n.3364+1473T>G (TTN-AS1)
XM_011511729.1:c.58429A>C (TTN)	XP_011510031.1:p.Lys19477Gln
XM_011511730.1:c.32323A>C (TTN)	XP_011510032.1:p.Lys10775Gln
XM_011511731.1:c.32182A>C (TTN)	XP_011510033.1:p.Lys10728Gln
XM_017004819.1:c.58225A>C (TTN)	XP_016860308.1:p.Lys19409Gln
XM_017004820.1:c.53623A>C (TTN)	XP_016860309.1:p.Lys17875Gln
XM_017004821.1:c.53620A>C (TTN)	XP_016860310.1:p.Lys17874Gln
XM_017004822.1:c.50662A>C (TTN)	XP_016860311.1:p.Lys16888Gln
XM_017004823.1:c.32278A>C (TTN)	XP_016860312.1:p.Lys10760Gln
XM_024453094.1:c.53773A>C (TTN)	XP_024308862.1:p.Lys17925Gln
XM_024453095.1:c.53770A>C (TTN)	XP_024308863.1:p.Lys17924Gln
XM_024453096.1:c.53203A>C (TTN)	XP_024308864.1:p.Lys17735Gln
XM_024453097.1:c.50545A>C (TTN)	XP_024308865.1:p.Lys16849Gln
XM_024453098.1:c.50464A>C (TTN)	XP_024308866.1:p.Lys16822Gln
XM_024453099.1:c.32227A>C (TTN)	XP_024308867.1:p.Lys10743Gln
XM_024453100.1:c.22081A>C (TTN)	XP_024308868.1:p.Lys7361Gln