Canonical Allele Identifier: CA349612886

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178569109-C-T
• MyVariant Identifiers: chr2:g.179433836C>T (hg19) ; chr2:g.178569109C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178569109C>T , CM000664.2:g.178569109C>T	GRCh38
NC_000002.11:g.179433836C>T , CM000664.1:g.179433836C>T	GRCh37
NC_000002.10:g.179142082C>T	NCBI36
NG_011618.3:g.266694G>A , LRG_391:g.266694G>A
NG_051363.1:g.51283C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.69319G>A (TTN)	ENSP00000343764.6:p.Val23107Ile
ENST00000342175.11:c.50404G>A (TTN)	ENSP00000340554.6:p.Val16802Ile
ENST00000359218.10:c.50203G>A (TTN)	ENSP00000352154.5:p.Val16735Ile
ENST00000342175.10:c.50404G>A (TTN)	ENSP00000340554.6:p.Val16802Ile
ENST00000342992.10:c.69319G>A (TTN)	ENSP00000343764.6:p.Val23107Ile
ENST00000359218.9:c.50203G>A (TTN)	ENSP00000352154.5:p.Val16735Ile
ENST00000460472.6:c.49828G>A (TTN)	ENSP00000434586.1:p.Val16610Ile
ENST00000589042.5:c.77023G>A (TTN) MANE Select	ENSP00000467141.1:p.Val25675Ile
ENST00000591111.5:c.72100G>A (TTN)	ENSP00000465570.1:p.Val24034Ile
ENST00000615779.4:c.72100G>A (TTN)	ENSP00000483597.1:p.Val24034Ile
NM_001256850.1:c.72100G>A (TTN)	NP_001243779.1:p.Val24034Ile
NM_001267550.2:c.77023G>A (TTN) MANE Select	NP_001254479.2:p.Val25675Ile
NM_003319.4:c.49828G>A (TTN)	NP_003310.4:p.Val16610Ile
NM_133378.4:c.69319G>A (TTN)	NP_596869.4:p.Val23107Ile
NM_133432.3:c.50203G>A (TTN)	NP_597676.3:p.Val16735Ile
NM_133437.4:c.50404G>A (TTN)	NP_597681.4:p.Val16802Ile
NR_038271.1:n.447-2191C>T (TTN-AS1)
NR_038272.1:n.2044-13463C>T (TTN-AS1)
XM_011511729.1:c.76120G>A (TTN)	XP_011510031.1:p.Val25374Ile
XM_011511730.1:c.50014G>A (TTN)	XP_011510032.1:p.Val16672Ile
XM_011511731.1:c.49873G>A (TTN)	XP_011510033.1:p.Val16625Ile
XM_017004819.1:c.75916G>A (TTN)	XP_016860308.1:p.Val25306Ile
XM_017004820.1:c.71314G>A (TTN)	XP_016860309.1:p.Val23772Ile
XM_017004821.1:c.71311G>A (TTN)	XP_016860310.1:p.Val23771Ile
XM_017004822.1:c.68353G>A (TTN)	XP_016860311.1:p.Val22785Ile
XM_017004823.1:c.49969G>A (TTN)	XP_016860312.1:p.Val16657Ile
XM_024453094.1:c.71464G>A (TTN)	XP_024308862.1:p.Val23822Ile
XM_024453095.1:c.71461G>A (TTN)	XP_024308863.1:p.Val23821Ile
XM_024453096.1:c.70894G>A (TTN)	XP_024308864.1:p.Val23632Ile
XM_024453097.1:c.68236G>A (TTN)	XP_024308865.1:p.Val22746Ile
XM_024453098.1:c.68155G>A (TTN)	XP_024308866.1:p.Val22719Ile
XM_024453099.1:c.49918G>A (TTN)	XP_024308867.1:p.Val16640Ile
XM_024453100.1:c.39772G>A (TTN)	XP_024308868.1:p.Val13258Ile