Canonical Allele Identifier: CA349488677

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179456707A>T (hg19) ; chr2:g.178591980A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178591980A>T , CM000664.2:g.178591980A>T	GRCh38
NC_000002.11:g.179456707A>T , CM000664.1:g.179456707A>T	GRCh37
NC_000002.10:g.179164953A>T	NCBI36
NG_011618.3:g.243823T>A , LRG_391:g.243823T>A
NG_051363.1:g.74154A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.52220T>A (TTN)	ENSP00000343764.6:p.Leu17407His
ENST00000342175.11:c.33305T>A (TTN)	ENSP00000340554.6:p.Leu11102His
ENST00000359218.10:c.33104T>A (TTN)	ENSP00000352154.5:p.Leu11035His
ENST00000342175.10:c.33305T>A (TTN)	ENSP00000340554.6:p.Leu11102His
ENST00000342992.10:c.52220T>A (TTN)	ENSP00000343764.6:p.Leu17407His
ENST00000359218.9:c.33104T>A (TTN)	ENSP00000352154.5:p.Leu11035His
ENST00000460472.6:c.32729T>A (TTN)	ENSP00000434586.1:p.Leu10910His
ENST00000589042.5:c.59924T>A (TTN) MANE Select	ENSP00000467141.1:p.Leu19975His
ENST00000591111.5:c.55001T>A (TTN)	ENSP00000465570.1:p.Leu18334His
ENST00000615779.4:c.55001T>A (TTN)	ENSP00000483597.1:p.Leu18334His
NM_001256850.1:c.55001T>A (TTN)	NP_001243779.1:p.Leu18334His
NM_001267550.2:c.59924T>A (TTN) MANE Select	NP_001254479.2:p.Leu19975His
NM_003319.4:c.32729T>A (TTN)	NP_003310.4:p.Leu10910His
NM_133378.4:c.52220T>A (TTN)	NP_596869.4:p.Leu17407His
NM_133432.3:c.33104T>A (TTN)	NP_597676.3:p.Leu11035His
NM_133437.4:c.33305T>A (TTN)	NP_597681.4:p.Leu11102His
NR_038271.1:n.597-5616A>T (TTN-AS1)
NR_038272.1:n.3364+666A>T (TTN-AS1)
XM_011511729.1:c.59021T>A (TTN)	XP_011510031.1:p.Leu19674His
XM_011511730.1:c.32915T>A (TTN)	XP_011510032.1:p.Leu10972His
XM_011511731.1:c.32774T>A (TTN)	XP_011510033.1:p.Leu10925His
XM_017004819.1:c.58817T>A (TTN)	XP_016860308.1:p.Leu19606His
XM_017004820.1:c.54215T>A (TTN)	XP_016860309.1:p.Leu18072His
XM_017004821.1:c.54212T>A (TTN)	XP_016860310.1:p.Leu18071His
XM_017004822.1:c.51254T>A (TTN)	XP_016860311.1:p.Leu17085His
XM_017004823.1:c.32870T>A (TTN)	XP_016860312.1:p.Leu10957His
XM_024453094.1:c.54365T>A (TTN)	XP_024308862.1:p.Leu18122His
XM_024453095.1:c.54362T>A (TTN)	XP_024308863.1:p.Leu18121His
XM_024453096.1:c.53795T>A (TTN)	XP_024308864.1:p.Leu17932His
XM_024453097.1:c.51137T>A (TTN)	XP_024308865.1:p.Leu17046His
XM_024453098.1:c.51056T>A (TTN)	XP_024308866.1:p.Leu17019His
XM_024453099.1:c.32819T>A (TTN)	XP_024308867.1:p.Leu10940His
XM_024453100.1:c.22673T>A (TTN)	XP_024308868.1:p.Leu7558His