Canonical Allele Identifier: CA349427929

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179402362T>A (hg19) ; chr2:g.178537635T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178537635T>A , CM000664.2:g.178537635T>A	GRCh38
NC_000002.11:g.179402362T>A , CM000664.1:g.179402362T>A	GRCh37
NC_000002.10:g.179110608T>A	NCBI36
NG_011618.3:g.298168A>T , LRG_391:g.298168A>T
NG_051363.1:g.19809T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.91868A>T (TTN)	ENSP00000343764.6:p.Gln30623Leu
ENST00000342175.11:c.72953A>T (TTN)	ENSP00000340554.6:p.Gln24318Leu
ENST00000359218.10:c.72752A>T (TTN)	ENSP00000352154.5:p.Gln24251Leu
ENST00000342175.10:c.72953A>T (TTN)	ENSP00000340554.6:p.Gln24318Leu
ENST00000342992.10:c.91868A>T (TTN)	ENSP00000343764.6:p.Gln30623Leu
ENST00000359218.9:c.72752A>T (TTN)	ENSP00000352154.5:p.Gln24251Leu
ENST00000460472.6:c.72377A>T (TTN)	ENSP00000434586.1:p.Gln24126Leu
ENST00000589042.5:c.99572A>T (TTN) MANE Select	ENSP00000467141.1:p.Gln33191Leu
ENST00000591111.5:c.94649A>T (TTN)	ENSP00000465570.1:p.Gln31550Leu
ENST00000615779.4:c.94649A>T (TTN)	ENSP00000483597.1:p.Gln31550Leu
NM_001256850.1:c.94649A>T (TTN)	NP_001243779.1:p.Gln31550Leu
NM_001267550.2:c.99572A>T (TTN) MANE Select	NP_001254479.2:p.Gln33191Leu
NM_003319.4:c.72377A>T (TTN)	NP_003310.4:p.Gln24126Leu
NM_133378.4:c.91868A>T (TTN)	NP_596869.4:p.Gln30623Leu
NM_133432.3:c.72752A>T (TTN)	NP_597676.3:p.Gln24251Leu
NM_133437.4:c.72953A>T (TTN)	NP_597681.4:p.Gln24318Leu
NR_038271.1:n.446+13999T>A (TTN-AS1)
NR_038272.1:n.591T>A (TTN-AS1)
XM_011511729.1:c.98669A>T (TTN)	XP_011510031.1:p.Gln32890Leu
XM_011511730.1:c.72563A>T (TTN)	XP_011510032.1:p.Gln24188Leu
XM_011511731.1:c.72422A>T (TTN)	XP_011510033.1:p.Gln24141Leu
XM_017004819.1:c.98465A>T (TTN)	XP_016860308.1:p.Gln32822Leu
XM_017004820.1:c.93863A>T (TTN)	XP_016860309.1:p.Gln31288Leu
XM_017004821.1:c.93860A>T (TTN)	XP_016860310.1:p.Gln31287Leu
XM_017004822.1:c.90902A>T (TTN)	XP_016860311.1:p.Gln30301Leu
XM_017004823.1:c.72518A>T (TTN)	XP_016860312.1:p.Gln24173Leu
XM_024453094.1:c.94013A>T (TTN)	XP_024308862.1:p.Gln31338Leu
XM_024453095.1:c.94010A>T (TTN)	XP_024308863.1:p.Gln31337Leu
XM_024453096.1:c.93443A>T (TTN)	XP_024308864.1:p.Gln31148Leu
XM_024453097.1:c.90785A>T (TTN)	XP_024308865.1:p.Gln30262Leu
XM_024453098.1:c.90704A>T (TTN)	XP_024308866.1:p.Gln30235Leu
XM_024453099.1:c.72467A>T (TTN)	XP_024308867.1:p.Gln24156Leu
XM_024453100.1:c.62321A>T (TTN)	XP_024308868.1:p.Gln20774Leu