Canonical Allele Identifier: CA349500135

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179457957T>A (hg19) ; chr2:g.178593230T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178593230T>A , CM000664.2:g.178593230T>A	GRCh38
NC_000002.11:g.179457957T>A , CM000664.1:g.179457957T>A	GRCh37
NC_000002.10:g.179166203T>A	NCBI36
NG_011618.3:g.242573A>T , LRG_391:g.242573A>T
NG_051363.1:g.75404T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.51274A>T (TTN)	ENSP00000343764.6:p.Ile17092Phe
ENST00000342175.11:c.32359A>T (TTN)	ENSP00000340554.6:p.Ile10787Phe
ENST00000359218.10:c.32158A>T (TTN)	ENSP00000352154.5:p.Ile10720Phe
ENST00000342175.10:c.32359A>T (TTN)	ENSP00000340554.6:p.Ile10787Phe
ENST00000342992.10:c.51274A>T (TTN)	ENSP00000343764.6:p.Ile17092Phe
ENST00000359218.9:c.32158A>T (TTN)	ENSP00000352154.5:p.Ile10720Phe
ENST00000460472.6:c.31783A>T (TTN)	ENSP00000434586.1:p.Ile10595Phe
ENST00000589042.5:c.58978A>T (TTN) MANE Select	ENSP00000467141.1:p.Ile19660Phe
ENST00000591111.5:c.54055A>T (TTN)	ENSP00000465570.1:p.Ile18019Phe
ENST00000615779.4:c.54055A>T (TTN)	ENSP00000483597.1:p.Ile18019Phe
NM_001256850.1:c.54055A>T (TTN)	NP_001243779.1:p.Ile18019Phe
NM_001267550.2:c.58978A>T (TTN) MANE Select	NP_001254479.2:p.Ile19660Phe
NM_003319.4:c.31783A>T (TTN)	NP_003310.4:p.Ile10595Phe
NM_133378.4:c.51274A>T (TTN)	NP_596869.4:p.Ile17092Phe
NM_133432.3:c.32158A>T (TTN)	NP_597676.3:p.Ile10720Phe
NM_133437.4:c.32359A>T (TTN)	NP_597681.4:p.Ile10787Phe
NR_038271.1:n.597-4366T>A (TTN-AS1)
NR_038272.1:n.3364+1916T>A (TTN-AS1)
XM_011511729.1:c.58075A>T (TTN)	XP_011510031.1:p.Ile19359Phe
XM_011511730.1:c.31969A>T (TTN)	XP_011510032.1:p.Ile10657Phe
XM_011511731.1:c.31828A>T (TTN)	XP_011510033.1:p.Ile10610Phe
XM_017004819.1:c.57871A>T (TTN)	XP_016860308.1:p.Ile19291Phe
XM_017004820.1:c.53269A>T (TTN)	XP_016860309.1:p.Ile17757Phe
XM_017004821.1:c.53266A>T (TTN)	XP_016860310.1:p.Ile17756Phe
XM_017004822.1:c.50308A>T (TTN)	XP_016860311.1:p.Ile16770Phe
XM_017004823.1:c.31924A>T (TTN)	XP_016860312.1:p.Ile10642Phe
XM_024453094.1:c.53419A>T (TTN)	XP_024308862.1:p.Ile17807Phe
XM_024453095.1:c.53416A>T (TTN)	XP_024308863.1:p.Ile17806Phe
XM_024453096.1:c.52849A>T (TTN)	XP_024308864.1:p.Ile17617Phe
XM_024453097.1:c.50191A>T (TTN)	XP_024308865.1:p.Ile16731Phe
XM_024453098.1:c.50110A>T (TTN)	XP_024308866.1:p.Ile16704Phe
XM_024453099.1:c.31873A>T (TTN)	XP_024308867.1:p.Ile10625Phe
XM_024453100.1:c.21727A>T (TTN)	XP_024308868.1:p.Ile7243Phe