Canonical Allele Identifier: CA349407121

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179395281T>A (hg19) ; chr2:g.178530554T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530554T>A , CM000664.2:g.178530554T>A	GRCh38
NC_000002.11:g.179395281T>A , CM000664.1:g.179395281T>A	GRCh37
NC_000002.10:g.179103527T>A	NCBI36
NG_011618.3:g.305249A>T , LRG_391:g.305249A>T
NG_051363.1:g.12728T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98357A>T (TTN)	ENSP00000343764.6:p.Gln32786Leu
ENST00000342175.11:c.79442A>T (TTN)	ENSP00000340554.6:p.Gln26481Leu
ENST00000359218.10:c.79241A>T (TTN)	ENSP00000352154.5:p.Gln26414Leu
ENST00000342175.10:c.79442A>T (TTN)	ENSP00000340554.6:p.Gln26481Leu
ENST00000342992.10:c.98357A>T (TTN)	ENSP00000343764.6:p.Gln32786Leu
ENST00000359218.9:c.79241A>T (TTN)	ENSP00000352154.5:p.Gln26414Leu
ENST00000460472.6:c.78866A>T (TTN)	ENSP00000434586.1:p.Gln26289Leu
ENST00000589042.5:c.106061A>T (TTN) MANE Select	ENSP00000467141.1:p.Gln35354Leu
ENST00000591111.5:c.101138A>T (TTN)	ENSP00000465570.1:p.Gln33713Leu
ENST00000615779.4:c.101138A>T (TTN)	ENSP00000483597.1:p.Gln33713Leu
NM_001256850.1:c.101138A>T (TTN)	NP_001243779.1:p.Gln33713Leu
NM_001267550.2:c.106061A>T (TTN) MANE Select	NP_001254479.2:p.Gln35354Leu
NM_003319.4:c.78866A>T (TTN)	NP_003310.4:p.Gln26289Leu
NM_133378.4:c.98357A>T (TTN)	NP_596869.4:p.Gln32786Leu
NM_133432.3:c.79241A>T (TTN)	NP_597676.3:p.Gln26414Leu
NM_133437.4:c.79442A>T (TTN)	NP_597681.4:p.Gln26481Leu
NR_038271.1:n.446+6918T>A (TTN-AS1)
NR_038272.1:n.220-5178T>A (TTN-AS1)
XM_011511729.1:c.105158A>T (TTN)	XP_011510031.1:p.Gln35053Leu
XM_011511730.1:c.79052A>T (TTN)	XP_011510032.1:p.Gln26351Leu
XM_011511731.1:c.78911A>T (TTN)	XP_011510033.1:p.Gln26304Leu
XM_017004819.1:c.104954A>T (TTN)	XP_016860308.1:p.Gln34985Leu
XM_017004820.1:c.100352A>T (TTN)	XP_016860309.1:p.Gln33451Leu
XM_017004821.1:c.100349A>T (TTN)	XP_016860310.1:p.Gln33450Leu
XM_017004822.1:c.97391A>T (TTN)	XP_016860311.1:p.Gln32464Leu
XM_017004823.1:c.79007A>T (TTN)	XP_016860312.1:p.Gln26336Leu
XM_024453094.1:c.100502A>T (TTN)	XP_024308862.1:p.Gln33501Leu
XM_024453095.1:c.100499A>T (TTN)	XP_024308863.1:p.Gln33500Leu
XM_024453096.1:c.99932A>T (TTN)	XP_024308864.1:p.Gln33311Leu
XM_024453097.1:c.97274A>T (TTN)	XP_024308865.1:p.Gln32425Leu
XM_024453098.1:c.97193A>T (TTN)	XP_024308866.1:p.Gln32398Leu
XM_024453099.1:c.78956A>T (TTN)	XP_024308867.1:p.Gln26319Leu
XM_024453100.1:c.68810A>T (TTN)	XP_024308868.1:p.Gln22937Leu