Canonical Allele Identifier: CA349496136

Gene: TTN TTN-AS1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.84190A>C (TTN)	ENSP00000343764.6:p.Ile28064Leu
ENST00000342175.11:c.65275A>C (TTN)	ENSP00000340554.6:p.Ile21759Leu
ENST00000359218.10:c.65074A>C (TTN)	ENSP00000352154.5:p.Ile21692Leu
ENST00000342175.10:c.65275A>C (TTN)	ENSP00000340554.6:p.Ile21759Leu
ENST00000342992.10:c.84190A>C (TTN)	ENSP00000343764.6:p.Ile28064Leu
ENST00000359218.9:c.65074A>C (TTN)	ENSP00000352154.5:p.Ile21692Leu
ENST00000460472.6:c.64699A>C (TTN)	ENSP00000434586.1:p.Ile21567Leu
ENST00000589042.5:c.91894A>C (TTN) MANE Select	ENSP00000467141.1:p.Ile30632Leu
ENST00000591111.5:c.86971A>C (TTN)	ENSP00000465570.1:p.Ile28991Leu
ENST00000615779.4:c.86971A>C (TTN)	ENSP00000483597.1:p.Ile28991Leu
NM_001256850.1:c.86971A>C (TTN)	NP_001243779.1:p.Ile28991Leu
NM_001267550.2:c.91894A>C (TTN) MANE Select	NP_001254479.2:p.Ile30632Leu
NM_003319.4:c.64699A>C (TTN)	NP_003310.4:p.Ile21567Leu
NM_133378.4:c.84190A>C (TTN)	NP_596869.4:p.Ile28064Leu
NM_133432.3:c.65074A>C (TTN)	NP_597676.3:p.Ile21692Leu
NM_133437.4:c.65275A>C (TTN)	NP_597681.4:p.Ile21759Leu
NR_038271.1:n.447-21472T>G (TTN-AS1)
NR_038272.1:n.2043+7467T>G (TTN-AS1)
XM_011511729.1:c.90991A>C (TTN)	XP_011510031.1:p.Ile30331Leu
XM_011511730.1:c.64885A>C (TTN)	XP_011510032.1:p.Ile21629Leu
XM_011511731.1:c.64744A>C (TTN)	XP_011510033.1:p.Ile21582Leu
XM_017004819.1:c.90787A>C (TTN)	XP_016860308.1:p.Ile30263Leu
XM_017004820.1:c.86185A>C (TTN)	XP_016860309.1:p.Ile28729Leu
XM_017004821.1:c.86182A>C (TTN)	XP_016860310.1:p.Ile28728Leu
XM_017004822.1:c.83224A>C (TTN)	XP_016860311.1:p.Ile27742Leu
XM_017004823.1:c.64840A>C (TTN)	XP_016860312.1:p.Ile21614Leu
XM_024453094.1:c.86335A>C (TTN)	XP_024308862.1:p.Ile28779Leu
XM_024453095.1:c.86332A>C (TTN)	XP_024308863.1:p.Ile28778Leu
XM_024453096.1:c.85765A>C (TTN)	XP_024308864.1:p.Ile28589Leu
XM_024453097.1:c.83107A>C (TTN)	XP_024308865.1:p.Ile27703Leu
XM_024453098.1:c.83026A>C (TTN)	XP_024308866.1:p.Ile27676Leu
XM_024453099.1:c.64789A>C (TTN)	XP_024308867.1:p.Ile21597Leu
XM_024453100.1:c.54643A>C (TTN)	XP_024308868.1:p.Ile18215Leu