Canonical Allele Identifier: CA349620918

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179435171G>T (hg19) ; chr2:g.178570444G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178570444G>T , CM000664.2:g.178570444G>T	GRCh38
NC_000002.11:g.179435171G>T , CM000664.1:g.179435171G>T	GRCh37
NC_000002.10:g.179143417G>T	NCBI36
NG_011618.3:g.265359C>A , LRG_391:g.265359C>A
NG_051363.1:g.52618G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.67984C>A (TTN)	ENSP00000343764.6:p.Leu22662Ile
ENST00000342175.11:c.49069C>A (TTN)	ENSP00000340554.6:p.Leu16357Ile
ENST00000359218.10:c.48868C>A (TTN)	ENSP00000352154.5:p.Leu16290Ile
ENST00000342175.10:c.49069C>A (TTN)	ENSP00000340554.6:p.Leu16357Ile
ENST00000342992.10:c.67984C>A (TTN)	ENSP00000343764.6:p.Leu22662Ile
ENST00000359218.9:c.48868C>A (TTN)	ENSP00000352154.5:p.Leu16290Ile
ENST00000460472.6:c.48493C>A (TTN)	ENSP00000434586.1:p.Leu16165Ile
ENST00000589042.5:c.75688C>A (TTN) MANE Select	ENSP00000467141.1:p.Leu25230Ile
ENST00000591111.5:c.70765C>A (TTN)	ENSP00000465570.1:p.Leu23589Ile
ENST00000615779.4:c.70765C>A (TTN)	ENSP00000483597.1:p.Leu23589Ile
NM_001256850.1:c.70765C>A (TTN)	NP_001243779.1:p.Leu23589Ile
NM_001267550.2:c.75688C>A (TTN) MANE Select	NP_001254479.2:p.Leu25230Ile
NM_003319.4:c.48493C>A (TTN)	NP_003310.4:p.Leu16165Ile
NM_133378.4:c.67984C>A (TTN)	NP_596869.4:p.Leu22662Ile
NM_133432.3:c.48868C>A (TTN)	NP_597676.3:p.Leu16290Ile
NM_133437.4:c.49069C>A (TTN)	NP_597681.4:p.Leu16357Ile
NR_038271.1:n.447-856G>T (TTN-AS1)
NR_038272.1:n.2044-12128G>T (TTN-AS1)
XM_011511729.1:c.74785C>A (TTN)	XP_011510031.1:p.Leu24929Ile
XM_011511730.1:c.48679C>A (TTN)	XP_011510032.1:p.Leu16227Ile
XM_011511731.1:c.48538C>A (TTN)	XP_011510033.1:p.Leu16180Ile
XM_017004819.1:c.74581C>A (TTN)	XP_016860308.1:p.Leu24861Ile
XM_017004820.1:c.69979C>A (TTN)	XP_016860309.1:p.Leu23327Ile
XM_017004821.1:c.69976C>A (TTN)	XP_016860310.1:p.Leu23326Ile
XM_017004822.1:c.67018C>A (TTN)	XP_016860311.1:p.Leu22340Ile
XM_017004823.1:c.48634C>A (TTN)	XP_016860312.1:p.Leu16212Ile
XM_024453094.1:c.70129C>A (TTN)	XP_024308862.1:p.Leu23377Ile
XM_024453095.1:c.70126C>A (TTN)	XP_024308863.1:p.Leu23376Ile
XM_024453096.1:c.69559C>A (TTN)	XP_024308864.1:p.Leu23187Ile
XM_024453097.1:c.66901C>A (TTN)	XP_024308865.1:p.Leu22301Ile
XM_024453098.1:c.66820C>A (TTN)	XP_024308866.1:p.Leu22274Ile
XM_024453099.1:c.48583C>A (TTN)	XP_024308867.1:p.Leu16195Ile
XM_024453100.1:c.38437C>A (TTN)	XP_024308868.1:p.Leu12813Ile