Canonical Allele Identifier: CA349496134

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179414555T>A (hg19) ; chr2:g.178549828T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178549828T>A , CM000664.2:g.178549828T>A	GRCh38
NC_000002.11:g.179414555T>A , CM000664.1:g.179414555T>A	GRCh37
NC_000002.10:g.179122801T>A	NCBI36
NG_011618.3:g.285975A>T , LRG_391:g.285975A>T
NG_051363.1:g.32002T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.84190A>T (TTN)	ENSP00000343764.6:p.Ile28064Phe
ENST00000342175.11:c.65275A>T (TTN)	ENSP00000340554.6:p.Ile21759Phe
ENST00000359218.10:c.65074A>T (TTN)	ENSP00000352154.5:p.Ile21692Phe
ENST00000342175.10:c.65275A>T (TTN)	ENSP00000340554.6:p.Ile21759Phe
ENST00000342992.10:c.84190A>T (TTN)	ENSP00000343764.6:p.Ile28064Phe
ENST00000359218.9:c.65074A>T (TTN)	ENSP00000352154.5:p.Ile21692Phe
ENST00000460472.6:c.64699A>T (TTN)	ENSP00000434586.1:p.Ile21567Phe
ENST00000589042.5:c.91894A>T (TTN) MANE Select	ENSP00000467141.1:p.Ile30632Phe
ENST00000591111.5:c.86971A>T (TTN)	ENSP00000465570.1:p.Ile28991Phe
ENST00000615779.4:c.86971A>T (TTN)	ENSP00000483597.1:p.Ile28991Phe
NM_001256850.1:c.86971A>T (TTN)	NP_001243779.1:p.Ile28991Phe
NM_001267550.2:c.91894A>T (TTN) MANE Select	NP_001254479.2:p.Ile30632Phe
NM_003319.4:c.64699A>T (TTN)	NP_003310.4:p.Ile21567Phe
NM_133378.4:c.84190A>T (TTN)	NP_596869.4:p.Ile28064Phe
NM_133432.3:c.65074A>T (TTN)	NP_597676.3:p.Ile21692Phe
NM_133437.4:c.65275A>T (TTN)	NP_597681.4:p.Ile21759Phe
NR_038271.1:n.447-21472T>A (TTN-AS1)
NR_038272.1:n.2043+7467T>A (TTN-AS1)
XM_011511729.1:c.90991A>T (TTN)	XP_011510031.1:p.Ile30331Phe
XM_011511730.1:c.64885A>T (TTN)	XP_011510032.1:p.Ile21629Phe
XM_011511731.1:c.64744A>T (TTN)	XP_011510033.1:p.Ile21582Phe
XM_017004819.1:c.90787A>T (TTN)	XP_016860308.1:p.Ile30263Phe
XM_017004820.1:c.86185A>T (TTN)	XP_016860309.1:p.Ile28729Phe
XM_017004821.1:c.86182A>T (TTN)	XP_016860310.1:p.Ile28728Phe
XM_017004822.1:c.83224A>T (TTN)	XP_016860311.1:p.Ile27742Phe
XM_017004823.1:c.64840A>T (TTN)	XP_016860312.1:p.Ile21614Phe
XM_024453094.1:c.86335A>T (TTN)	XP_024308862.1:p.Ile28779Phe
XM_024453095.1:c.86332A>T (TTN)	XP_024308863.1:p.Ile28778Phe
XM_024453096.1:c.85765A>T (TTN)	XP_024308864.1:p.Ile28589Phe
XM_024453097.1:c.83107A>T (TTN)	XP_024308865.1:p.Ile27703Phe
XM_024453098.1:c.83026A>T (TTN)	XP_024308866.1:p.Ile27676Phe
XM_024453099.1:c.64789A>T (TTN)	XP_024308867.1:p.Ile21597Phe
XM_024453100.1:c.54643A>T (TTN)	XP_024308868.1:p.Ile18215Phe