Canonical Allele Identifier: CA349618200

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179482784A>T (hg19) ; chr2:g.178618057A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178618057A>T , CM000664.2:g.178618057A>T	GRCh38
NC_000002.11:g.179482784A>T , CM000664.1:g.179482784A>T	GRCh37
NC_000002.10:g.179191029A>T	NCBI36
NG_011618.3:g.217746T>A , LRG_391:g.217746T>A
NG_051363.1:g.100231A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.39590T>A (TTN)	ENSP00000343764.6:p.Val13197Glu
ENST00000342175.11:c.20675T>A (TTN)	ENSP00000340554.6:p.Val6892Glu
ENST00000359218.10:c.20474T>A (TTN)	ENSP00000352154.5:p.Val6825Glu
ENST00000342175.10:c.20675T>A (TTN)	ENSP00000340554.6:p.Val6892Glu
ENST00000342992.10:c.39590T>A (TTN)	ENSP00000343764.6:p.Val13197Glu
ENST00000359218.9:c.20474T>A (TTN)	ENSP00000352154.5:p.Val6825Glu
ENST00000460472.6:c.20099T>A (TTN)	ENSP00000434586.1:p.Val6700Glu
ENST00000589042.5:c.47294T>A (TTN) MANE Select	ENSP00000467141.1:p.Val15765Glu
ENST00000591111.5:c.42371T>A (TTN)	ENSP00000465570.1:p.Val14124Glu
ENST00000615779.4:c.42371T>A (TTN)	ENSP00000483597.1:p.Val14124Glu
NM_001256850.1:c.42371T>A (TTN)	NP_001243779.1:p.Val14124Glu
NM_001267550.2:c.47294T>A (TTN) MANE Select	NP_001254479.2:p.Val15765Glu
NM_003319.4:c.20099T>A (TTN)	NP_003310.4:p.Val6700Glu
NM_133378.4:c.39590T>A (TTN)	NP_596869.4:p.Val13197Glu
NM_133432.3:c.20474T>A (TTN)	NP_597676.3:p.Val6825Glu
NM_133437.4:c.20675T>A (TTN)	NP_597681.4:p.Val6892Glu
NR_038271.1:n.1605-1696A>T (TTN-AS1)
XM_011511729.1:c.46391T>A (TTN)	XP_011510031.1:p.Val15464Glu
XM_011511730.1:c.20285T>A (TTN)	XP_011510032.1:p.Val6762Glu
XM_011511731.1:c.20144T>A (TTN)	XP_011510033.1:p.Val6715Glu
XM_017004819.1:c.46187T>A (TTN)	XP_016860308.1:p.Val15396Glu
XM_017004820.1:c.41585T>A (TTN)	XP_016860309.1:p.Val13862Glu
XM_017004821.1:c.41582T>A (TTN)	XP_016860310.1:p.Val13861Glu
XM_017004822.1:c.38624T>A (TTN)	XP_016860311.1:p.Val12875Glu
XM_017004823.1:c.20240T>A (TTN)	XP_016860312.1:p.Val6747Glu
XM_024453094.1:c.41735T>A (TTN)	XP_024308862.1:p.Val13912Glu
XM_024453095.1:c.41732T>A (TTN)	XP_024308863.1:p.Val13911Glu
XM_024453096.1:c.41165T>A (TTN)	XP_024308864.1:p.Val13722Glu
XM_024453097.1:c.38507T>A (TTN)	XP_024308865.1:p.Val12836Glu
XM_024453098.1:c.38426T>A (TTN)	XP_024308866.1:p.Val12809Glu
XM_024453099.1:c.20189T>A (TTN)	XP_024308867.1:p.Val6730Glu
XM_024453100.1:c.10043T>A (TTN)	XP_024308868.1:p.Val3348Glu