Canonical Allele Identifier: CA349611873

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179433648C>A (hg19) ; chr2:g.178568921C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178568921C>A , CM000664.2:g.178568921C>A	GRCh38
NC_000002.11:g.179433648C>A , CM000664.1:g.179433648C>A	GRCh37
NC_000002.10:g.179141894C>A	NCBI36
NG_011618.3:g.266882G>T , LRG_391:g.266882G>T
NG_051363.1:g.51095C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.69507G>T (TTN)	ENSP00000343764.6:p.Met23169Ile
ENST00000342175.11:c.50592G>T (TTN)	ENSP00000340554.6:p.Met16864Ile
ENST00000359218.10:c.50391G>T (TTN)	ENSP00000352154.5:p.Met16797Ile
ENST00000342175.10:c.50592G>T (TTN)	ENSP00000340554.6:p.Met16864Ile
ENST00000342992.10:c.69507G>T (TTN)	ENSP00000343764.6:p.Met23169Ile
ENST00000359218.9:c.50391G>T (TTN)	ENSP00000352154.5:p.Met16797Ile
ENST00000460472.6:c.50016G>T (TTN)	ENSP00000434586.1:p.Met16672Ile
ENST00000589042.5:c.77211G>T (TTN) MANE Select	ENSP00000467141.1:p.Met25737Ile
ENST00000591111.5:c.72288G>T (TTN)	ENSP00000465570.1:p.Met24096Ile
ENST00000615779.4:c.72288G>T (TTN)	ENSP00000483597.1:p.Met24096Ile
NM_001256850.1:c.72288G>T (TTN)	NP_001243779.1:p.Met24096Ile
NM_001267550.2:c.77211G>T (TTN) MANE Select	NP_001254479.2:p.Met25737Ile
NM_003319.4:c.50016G>T (TTN)	NP_003310.4:p.Met16672Ile
NM_133378.4:c.69507G>T (TTN)	NP_596869.4:p.Met23169Ile
NM_133432.3:c.50391G>T (TTN)	NP_597676.3:p.Met16797Ile
NM_133437.4:c.50592G>T (TTN)	NP_597681.4:p.Met16864Ile
NR_038271.1:n.447-2379C>A (TTN-AS1)
NR_038272.1:n.2044-13651C>A (TTN-AS1)
XM_011511729.1:c.76308G>T (TTN)	XP_011510031.1:p.Met25436Ile
XM_011511730.1:c.50202G>T (TTN)	XP_011510032.1:p.Met16734Ile
XM_011511731.1:c.50061G>T (TTN)	XP_011510033.1:p.Met16687Ile
XM_017004819.1:c.76104G>T (TTN)	XP_016860308.1:p.Met25368Ile
XM_017004820.1:c.71502G>T (TTN)	XP_016860309.1:p.Met23834Ile
XM_017004821.1:c.71499G>T (TTN)	XP_016860310.1:p.Met23833Ile
XM_017004822.1:c.68541G>T (TTN)	XP_016860311.1:p.Met22847Ile
XM_017004823.1:c.50157G>T (TTN)	XP_016860312.1:p.Met16719Ile
XM_024453094.1:c.71652G>T (TTN)	XP_024308862.1:p.Met23884Ile
XM_024453095.1:c.71649G>T (TTN)	XP_024308863.1:p.Met23883Ile
XM_024453096.1:c.71082G>T (TTN)	XP_024308864.1:p.Met23694Ile
XM_024453097.1:c.68424G>T (TTN)	XP_024308865.1:p.Met22808Ile
XM_024453098.1:c.68343G>T (TTN)	XP_024308866.1:p.Met22781Ile
XM_024453099.1:c.50106G>T (TTN)	XP_024308867.1:p.Met16702Ile
XM_024453100.1:c.39960G>T (TTN)	XP_024308868.1:p.Met13320Ile