Canonical Allele Identifier: CA349612366

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1250369056
• gnomAD v2: 2-179433731-C-T
• gnomAD v3: 2-178569004-C-T
• gnomAD v4: 2-178569004-C-T
• MyVariant Identifiers: chr2:g.179433731C>T (hg19) ; chr2:g.178569004C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178569004C>T , CM000664.2:g.178569004C>T	GRCh38
NC_000002.11:g.179433731C>T , CM000664.1:g.179433731C>T	GRCh37
NC_000002.10:g.179141977C>T	NCBI36
NG_011618.3:g.266799G>A , LRG_391:g.266799G>A
NG_051363.1:g.51178C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.69424G>A (TTN)	ENSP00000343764.6:p.Val23142Ile
ENST00000342175.11:c.50509G>A (TTN)	ENSP00000340554.6:p.Val16837Ile
ENST00000359218.10:c.50308G>A (TTN)	ENSP00000352154.5:p.Val16770Ile
ENST00000342175.10:c.50509G>A (TTN)	ENSP00000340554.6:p.Val16837Ile
ENST00000342992.10:c.69424G>A (TTN)	ENSP00000343764.6:p.Val23142Ile
ENST00000359218.9:c.50308G>A (TTN)	ENSP00000352154.5:p.Val16770Ile
ENST00000460472.6:c.49933G>A (TTN)	ENSP00000434586.1:p.Val16645Ile
ENST00000589042.5:c.77128G>A (TTN) MANE Select	ENSP00000467141.1:p.Val25710Ile
ENST00000591111.5:c.72205G>A (TTN)	ENSP00000465570.1:p.Val24069Ile
ENST00000615779.4:c.72205G>A (TTN)	ENSP00000483597.1:p.Val24069Ile
NM_001256850.1:c.72205G>A (TTN)	NP_001243779.1:p.Val24069Ile
NM_001267550.2:c.77128G>A (TTN) MANE Select	NP_001254479.2:p.Val25710Ile
NM_003319.4:c.49933G>A (TTN)	NP_003310.4:p.Val16645Ile
NM_133378.4:c.69424G>A (TTN)	NP_596869.4:p.Val23142Ile
NM_133432.3:c.50308G>A (TTN)	NP_597676.3:p.Val16770Ile
NM_133437.4:c.50509G>A (TTN)	NP_597681.4:p.Val16837Ile
NR_038271.1:n.447-2296C>T (TTN-AS1)
NR_038272.1:n.2044-13568C>T (TTN-AS1)
XM_011511729.1:c.76225G>A (TTN)	XP_011510031.1:p.Val25409Ile
XM_011511730.1:c.50119G>A (TTN)	XP_011510032.1:p.Val16707Ile
XM_011511731.1:c.49978G>A (TTN)	XP_011510033.1:p.Val16660Ile
XM_017004819.1:c.76021G>A (TTN)	XP_016860308.1:p.Val25341Ile
XM_017004820.1:c.71419G>A (TTN)	XP_016860309.1:p.Val23807Ile
XM_017004821.1:c.71416G>A (TTN)	XP_016860310.1:p.Val23806Ile
XM_017004822.1:c.68458G>A (TTN)	XP_016860311.1:p.Val22820Ile
XM_017004823.1:c.50074G>A (TTN)	XP_016860312.1:p.Val16692Ile
XM_024453094.1:c.71569G>A (TTN)	XP_024308862.1:p.Val23857Ile
XM_024453095.1:c.71566G>A (TTN)	XP_024308863.1:p.Val23856Ile
XM_024453096.1:c.70999G>A (TTN)	XP_024308864.1:p.Val23667Ile
XM_024453097.1:c.68341G>A (TTN)	XP_024308865.1:p.Val22781Ile
XM_024453098.1:c.68260G>A (TTN)	XP_024308866.1:p.Val22754Ile
XM_024453099.1:c.50023G>A (TTN)	XP_024308867.1:p.Val16675Ile
XM_024453100.1:c.39877G>A (TTN)	XP_024308868.1:p.Val13293Ile