Canonical Allele Identifier: CA349494155

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178592778-G-T
• MyVariant Identifiers: chr2:g.179457505G>T (hg19) ; chr2:g.178592778G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178592778G>T , CM000664.2:g.178592778G>T	GRCh38
NC_000002.11:g.179457505G>T , CM000664.1:g.179457505G>T	GRCh37
NC_000002.10:g.179165751G>T	NCBI36
NG_011618.3:g.243025C>A , LRG_391:g.243025C>A
NG_051363.1:g.74952G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.51637C>A (TTN)	ENSP00000343764.6:p.Leu17213Ile
ENST00000342175.11:c.32722C>A (TTN)	ENSP00000340554.6:p.Leu10908Ile
ENST00000359218.10:c.32521C>A (TTN)	ENSP00000352154.5:p.Leu10841Ile
ENST00000342175.10:c.32722C>A (TTN)	ENSP00000340554.6:p.Leu10908Ile
ENST00000342992.10:c.51637C>A (TTN)	ENSP00000343764.6:p.Leu17213Ile
ENST00000359218.9:c.32521C>A (TTN)	ENSP00000352154.5:p.Leu10841Ile
ENST00000460472.6:c.32146C>A (TTN)	ENSP00000434586.1:p.Leu10716Ile
ENST00000589042.5:c.59341C>A (TTN) MANE Select	ENSP00000467141.1:p.Leu19781Ile
ENST00000591111.5:c.54418C>A (TTN)	ENSP00000465570.1:p.Leu18140Ile
ENST00000615779.4:c.54418C>A (TTN)	ENSP00000483597.1:p.Leu18140Ile
NM_001256850.1:c.54418C>A (TTN)	NP_001243779.1:p.Leu18140Ile
NM_001267550.2:c.59341C>A (TTN) MANE Select	NP_001254479.2:p.Leu19781Ile
NM_003319.4:c.32146C>A (TTN)	NP_003310.4:p.Leu10716Ile
NM_133378.4:c.51637C>A (TTN)	NP_596869.4:p.Leu17213Ile
NM_133432.3:c.32521C>A (TTN)	NP_597676.3:p.Leu10841Ile
NM_133437.4:c.32722C>A (TTN)	NP_597681.4:p.Leu10908Ile
NR_038271.1:n.597-4818G>T (TTN-AS1)
NR_038272.1:n.3364+1464G>T (TTN-AS1)
XM_011511729.1:c.58438C>A (TTN)	XP_011510031.1:p.Leu19480Ile
XM_011511730.1:c.32332C>A (TTN)	XP_011510032.1:p.Leu10778Ile
XM_011511731.1:c.32191C>A (TTN)	XP_011510033.1:p.Leu10731Ile
XM_017004819.1:c.58234C>A (TTN)	XP_016860308.1:p.Leu19412Ile
XM_017004820.1:c.53632C>A (TTN)	XP_016860309.1:p.Leu17878Ile
XM_017004821.1:c.53629C>A (TTN)	XP_016860310.1:p.Leu17877Ile
XM_017004822.1:c.50671C>A (TTN)	XP_016860311.1:p.Leu16891Ile
XM_017004823.1:c.32287C>A (TTN)	XP_016860312.1:p.Leu10763Ile
XM_024453094.1:c.53782C>A (TTN)	XP_024308862.1:p.Leu17928Ile
XM_024453095.1:c.53779C>A (TTN)	XP_024308863.1:p.Leu17927Ile
XM_024453096.1:c.53212C>A (TTN)	XP_024308864.1:p.Leu17738Ile
XM_024453097.1:c.50554C>A (TTN)	XP_024308865.1:p.Leu16852Ile
XM_024453098.1:c.50473C>A (TTN)	XP_024308866.1:p.Leu16825Ile
XM_024453099.1:c.32236C>A (TTN)	XP_024308867.1:p.Leu10746Ile
XM_024453100.1:c.22090C>A (TTN)	XP_024308868.1:p.Leu7364Ile