Canonical Allele Identifier: CA349664620

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179440712T>A (hg19) ; chr2:g.178575985T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178575985T>A , CM000664.2:g.178575985T>A	GRCh38
NC_000002.11:g.179440712T>A , CM000664.1:g.179440712T>A	GRCh37
NC_000002.10:g.179148958T>A	NCBI36
NG_011618.3:g.259818A>T , LRG_391:g.259818A>T
NG_051363.1:g.58159T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.62443A>T (TTN)	ENSP00000343764.6:p.Ile20815Phe
ENST00000342175.11:c.43528A>T (TTN)	ENSP00000340554.6:p.Ile14510Phe
ENST00000359218.10:c.43327A>T (TTN)	ENSP00000352154.5:p.Ile14443Phe
ENST00000342175.10:c.43528A>T (TTN)	ENSP00000340554.6:p.Ile14510Phe
ENST00000342992.10:c.62443A>T (TTN)	ENSP00000343764.6:p.Ile20815Phe
ENST00000359218.9:c.43327A>T (TTN)	ENSP00000352154.5:p.Ile14443Phe
ENST00000460472.6:c.42952A>T (TTN)	ENSP00000434586.1:p.Ile14318Phe
ENST00000589042.5:c.70147A>T (TTN) MANE Select	ENSP00000467141.1:p.Ile23383Phe
ENST00000591111.5:c.65224A>T (TTN)	ENSP00000465570.1:p.Ile21742Phe
ENST00000615779.4:c.65224A>T (TTN)	ENSP00000483597.1:p.Ile21742Phe
NM_001256850.1:c.65224A>T (TTN)	NP_001243779.1:p.Ile21742Phe
NM_001267550.2:c.70147A>T (TTN) MANE Select	NP_001254479.2:p.Ile23383Phe
NM_003319.4:c.42952A>T (TTN)	NP_003310.4:p.Ile14318Phe
NM_133378.4:c.62443A>T (TTN)	NP_596869.4:p.Ile20815Phe
NM_133432.3:c.43327A>T (TTN)	NP_597676.3:p.Ile14443Phe
NM_133437.4:c.43528A>T (TTN)	NP_597681.4:p.Ile14510Phe
NR_038271.1:n.596+4536T>A (TTN-AS1)
NR_038272.1:n.2044-6587T>A (TTN-AS1)
XM_011511729.1:c.69244A>T (TTN)	XP_011510031.1:p.Ile23082Phe
XM_011511730.1:c.43138A>T (TTN)	XP_011510032.1:p.Ile14380Phe
XM_011511731.1:c.42997A>T (TTN)	XP_011510033.1:p.Ile14333Phe
XM_017004819.1:c.69040A>T (TTN)	XP_016860308.1:p.Ile23014Phe
XM_017004820.1:c.64438A>T (TTN)	XP_016860309.1:p.Ile21480Phe
XM_017004821.1:c.64435A>T (TTN)	XP_016860310.1:p.Ile21479Phe
XM_017004822.1:c.61477A>T (TTN)	XP_016860311.1:p.Ile20493Phe
XM_017004823.1:c.43093A>T (TTN)	XP_016860312.1:p.Ile14365Phe
XM_024453094.1:c.64588A>T (TTN)	XP_024308862.1:p.Ile21530Phe
XM_024453095.1:c.64585A>T (TTN)	XP_024308863.1:p.Ile21529Phe
XM_024453096.1:c.64018A>T (TTN)	XP_024308864.1:p.Ile21340Phe
XM_024453097.1:c.61360A>T (TTN)	XP_024308865.1:p.Ile20454Phe
XM_024453098.1:c.61279A>T (TTN)	XP_024308866.1:p.Ile20427Phe
XM_024453099.1:c.43042A>T (TTN)	XP_024308867.1:p.Ile14348Phe
XM_024453100.1:c.32896A>T (TTN)	XP_024308868.1:p.Ile10966Phe