Canonical Allele Identifier: CA349459611

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179410189A>T (hg19) ; chr2:g.178545462A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178545462A>T , CM000664.2:g.178545462A>T	GRCh38
NC_000002.11:g.179410189A>T , CM000664.1:g.179410189A>T	GRCh37
NC_000002.10:g.179118435A>T	NCBI36
NG_011618.3:g.290341T>A , LRG_391:g.290341T>A
NG_051363.1:g.27636A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.87944T>A (TTN)	ENSP00000343764.6:p.Val29315Glu
ENST00000342175.11:c.69029T>A (TTN)	ENSP00000340554.6:p.Val23010Glu
ENST00000359218.10:c.68828T>A (TTN)	ENSP00000352154.5:p.Val22943Glu
ENST00000342175.10:c.69029T>A (TTN)	ENSP00000340554.6:p.Val23010Glu
ENST00000342992.10:c.87944T>A (TTN)	ENSP00000343764.6:p.Val29315Glu
ENST00000359218.9:c.68828T>A (TTN)	ENSP00000352154.5:p.Val22943Glu
ENST00000460472.6:c.68453T>A (TTN)	ENSP00000434586.1:p.Val22818Glu
ENST00000589042.5:c.95648T>A (TTN) MANE Select	ENSP00000467141.1:p.Val31883Glu
ENST00000591111.5:c.90725T>A (TTN)	ENSP00000465570.1:p.Val30242Glu
ENST00000615779.4:c.90725T>A (TTN)	ENSP00000483597.1:p.Val30242Glu
NM_001256850.1:c.90725T>A (TTN)	NP_001243779.1:p.Val30242Glu
NM_001267550.2:c.95648T>A (TTN) MANE Select	NP_001254479.2:p.Val31883Glu
NM_003319.4:c.68453T>A (TTN)	NP_003310.4:p.Val22818Glu
NM_133378.4:c.87944T>A (TTN)	NP_596869.4:p.Val29315Glu
NM_133432.3:c.68828T>A (TTN)	NP_597676.3:p.Val22943Glu
NM_133437.4:c.69029T>A (TTN)	NP_597681.4:p.Val23010Glu
NR_038271.1:n.446+21826A>T (TTN-AS1)
NR_038272.1:n.2043+3101A>T (TTN-AS1)
XM_011511729.1:c.94745T>A (TTN)	XP_011510031.1:p.Val31582Glu
XM_011511730.1:c.68639T>A (TTN)	XP_011510032.1:p.Val22880Glu
XM_011511731.1:c.68498T>A (TTN)	XP_011510033.1:p.Val22833Glu
XM_017004819.1:c.94541T>A (TTN)	XP_016860308.1:p.Val31514Glu
XM_017004820.1:c.89939T>A (TTN)	XP_016860309.1:p.Val29980Glu
XM_017004821.1:c.89936T>A (TTN)	XP_016860310.1:p.Val29979Glu
XM_017004822.1:c.86978T>A (TTN)	XP_016860311.1:p.Val28993Glu
XM_017004823.1:c.68594T>A (TTN)	XP_016860312.1:p.Val22865Glu
XM_024453094.1:c.90089T>A (TTN)	XP_024308862.1:p.Val30030Glu
XM_024453095.1:c.90086T>A (TTN)	XP_024308863.1:p.Val30029Glu
XM_024453096.1:c.89519T>A (TTN)	XP_024308864.1:p.Val29840Glu
XM_024453097.1:c.86861T>A (TTN)	XP_024308865.1:p.Val28954Glu
XM_024453098.1:c.86780T>A (TTN)	XP_024308866.1:p.Val28927Glu
XM_024453099.1:c.68543T>A (TTN)	XP_024308867.1:p.Val22848Glu
XM_024453100.1:c.58397T>A (TTN)	XP_024308868.1:p.Val19466Glu