Canonical Allele Identifier: CA349406542

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178530392-G-A
• MyVariant Identifiers: chr2:g.179395119G>A (hg19) ; chr2:g.178530392G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530392G>A , CM000664.2:g.178530392G>A	GRCh38
NC_000002.11:g.179395119G>A , CM000664.1:g.179395119G>A	GRCh37
NC_000002.10:g.179103365G>A	NCBI36
NG_011618.3:g.305411C>T , LRG_391:g.305411C>T
NG_051363.1:g.12566G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98519C>T (TTN)	ENSP00000343764.6:p.Thr32840Ile
ENST00000342175.11:c.79604C>T (TTN)	ENSP00000340554.6:p.Thr26535Ile
ENST00000359218.10:c.79403C>T (TTN)	ENSP00000352154.5:p.Thr26468Ile
ENST00000342175.10:c.79604C>T (TTN)	ENSP00000340554.6:p.Thr26535Ile
ENST00000342992.10:c.98519C>T (TTN)	ENSP00000343764.6:p.Thr32840Ile
ENST00000359218.9:c.79403C>T (TTN)	ENSP00000352154.5:p.Thr26468Ile
ENST00000460472.6:c.79028C>T (TTN)	ENSP00000434586.1:p.Thr26343Ile
ENST00000589042.5:c.106223C>T (TTN) MANE Select	ENSP00000467141.1:p.Thr35408Ile
ENST00000591111.5:c.101300C>T (TTN)	ENSP00000465570.1:p.Thr33767Ile
ENST00000615779.4:c.101300C>T (TTN)	ENSP00000483597.1:p.Thr33767Ile
NM_001256850.1:c.101300C>T (TTN)	NP_001243779.1:p.Thr33767Ile
NM_001267550.2:c.106223C>T (TTN) MANE Select	NP_001254479.2:p.Thr35408Ile
NM_003319.4:c.79028C>T (TTN)	NP_003310.4:p.Thr26343Ile
NM_133378.4:c.98519C>T (TTN)	NP_596869.4:p.Thr32840Ile
NM_133432.3:c.79403C>T (TTN)	NP_597676.3:p.Thr26468Ile
NM_133437.4:c.79604C>T (TTN)	NP_597681.4:p.Thr26535Ile
NR_038271.1:n.446+6756G>A (TTN-AS1)
NR_038272.1:n.220-5340G>A (TTN-AS1)
XM_011511729.1:c.105320C>T (TTN)	XP_011510031.1:p.Thr35107Ile
XM_011511730.1:c.79214C>T (TTN)	XP_011510032.1:p.Thr26405Ile
XM_011511731.1:c.79073C>T (TTN)	XP_011510033.1:p.Thr26358Ile
XM_017004819.1:c.105116C>T (TTN)	XP_016860308.1:p.Thr35039Ile
XM_017004820.1:c.100514C>T (TTN)	XP_016860309.1:p.Thr33505Ile
XM_017004821.1:c.100511C>T (TTN)	XP_016860310.1:p.Thr33504Ile
XM_017004822.1:c.97553C>T (TTN)	XP_016860311.1:p.Thr32518Ile
XM_017004823.1:c.79169C>T (TTN)	XP_016860312.1:p.Thr26390Ile
XM_024453094.1:c.100664C>T (TTN)	XP_024308862.1:p.Thr33555Ile
XM_024453095.1:c.100661C>T (TTN)	XP_024308863.1:p.Thr33554Ile
XM_024453096.1:c.100094C>T (TTN)	XP_024308864.1:p.Thr33365Ile
XM_024453097.1:c.97436C>T (TTN)	XP_024308865.1:p.Thr32479Ile
XM_024453098.1:c.97355C>T (TTN)	XP_024308866.1:p.Thr32452Ile
XM_024453099.1:c.79118C>T (TTN)	XP_024308867.1:p.Thr26373Ile
XM_024453100.1:c.68972C>T (TTN)	XP_024308868.1:p.Thr22991Ile