Canonical Allele Identifier: CA349500123

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179457951T>G (hg19) ; chr2:g.178593224T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178593224T>G , CM000664.2:g.178593224T>G	GRCh38
NC_000002.11:g.179457951T>G , CM000664.1:g.179457951T>G	GRCh37
NC_000002.10:g.179166197T>G	NCBI36
NG_011618.3:g.242579A>C , LRG_391:g.242579A>C
NG_051363.1:g.75398T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.51280A>C (TTN)	ENSP00000343764.6:p.Ile17094Leu
ENST00000342175.11:c.32365A>C (TTN)	ENSP00000340554.6:p.Ile10789Leu
ENST00000359218.10:c.32164A>C (TTN)	ENSP00000352154.5:p.Ile10722Leu
ENST00000342175.10:c.32365A>C (TTN)	ENSP00000340554.6:p.Ile10789Leu
ENST00000342992.10:c.51280A>C (TTN)	ENSP00000343764.6:p.Ile17094Leu
ENST00000359218.9:c.32164A>C (TTN)	ENSP00000352154.5:p.Ile10722Leu
ENST00000460472.6:c.31789A>C (TTN)	ENSP00000434586.1:p.Ile10597Leu
ENST00000589042.5:c.58984A>C (TTN) MANE Select	ENSP00000467141.1:p.Ile19662Leu
ENST00000591111.5:c.54061A>C (TTN)	ENSP00000465570.1:p.Ile18021Leu
ENST00000615779.4:c.54061A>C (TTN)	ENSP00000483597.1:p.Ile18021Leu
NM_001256850.1:c.54061A>C (TTN)	NP_001243779.1:p.Ile18021Leu
NM_001267550.2:c.58984A>C (TTN) MANE Select	NP_001254479.2:p.Ile19662Leu
NM_003319.4:c.31789A>C (TTN)	NP_003310.4:p.Ile10597Leu
NM_133378.4:c.51280A>C (TTN)	NP_596869.4:p.Ile17094Leu
NM_133432.3:c.32164A>C (TTN)	NP_597676.3:p.Ile10722Leu
NM_133437.4:c.32365A>C (TTN)	NP_597681.4:p.Ile10789Leu
NR_038271.1:n.597-4372T>G (TTN-AS1)
NR_038272.1:n.3364+1910T>G (TTN-AS1)
XM_011511729.1:c.58081A>C (TTN)	XP_011510031.1:p.Ile19361Leu
XM_011511730.1:c.31975A>C (TTN)	XP_011510032.1:p.Ile10659Leu
XM_011511731.1:c.31834A>C (TTN)	XP_011510033.1:p.Ile10612Leu
XM_017004819.1:c.57877A>C (TTN)	XP_016860308.1:p.Ile19293Leu
XM_017004820.1:c.53275A>C (TTN)	XP_016860309.1:p.Ile17759Leu
XM_017004821.1:c.53272A>C (TTN)	XP_016860310.1:p.Ile17758Leu
XM_017004822.1:c.50314A>C (TTN)	XP_016860311.1:p.Ile16772Leu
XM_017004823.1:c.31930A>C (TTN)	XP_016860312.1:p.Ile10644Leu
XM_024453094.1:c.53425A>C (TTN)	XP_024308862.1:p.Ile17809Leu
XM_024453095.1:c.53422A>C (TTN)	XP_024308863.1:p.Ile17808Leu
XM_024453096.1:c.52855A>C (TTN)	XP_024308864.1:p.Ile17619Leu
XM_024453097.1:c.50197A>C (TTN)	XP_024308865.1:p.Ile16733Leu
XM_024453098.1:c.50116A>C (TTN)	XP_024308866.1:p.Ile16706Leu
XM_024453099.1:c.31879A>C (TTN)	XP_024308867.1:p.Ile10627Leu
XM_024453100.1:c.21733A>C (TTN)	XP_024308868.1:p.Ile7245Leu