Canonical Allele Identifier: CA349494257

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179457519A>T (hg19) ; chr2:g.178592792A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178592792A>T , CM000664.2:g.178592792A>T	GRCh38
NC_000002.11:g.179457519A>T , CM000664.1:g.179457519A>T	GRCh37
NC_000002.10:g.179165765A>T	NCBI36
NG_011618.3:g.243011T>A , LRG_391:g.243011T>A
NG_051363.1:g.74966A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.51623T>A (TTN)	ENSP00000343764.6:p.Leu17208Gln
ENST00000342175.11:c.32708T>A (TTN)	ENSP00000340554.6:p.Leu10903Gln
ENST00000359218.10:c.32507T>A (TTN)	ENSP00000352154.5:p.Leu10836Gln
ENST00000342175.10:c.32708T>A (TTN)	ENSP00000340554.6:p.Leu10903Gln
ENST00000342992.10:c.51623T>A (TTN)	ENSP00000343764.6:p.Leu17208Gln
ENST00000359218.9:c.32507T>A (TTN)	ENSP00000352154.5:p.Leu10836Gln
ENST00000460472.6:c.32132T>A (TTN)	ENSP00000434586.1:p.Leu10711Gln
ENST00000589042.5:c.59327T>A (TTN) MANE Select	ENSP00000467141.1:p.Leu19776Gln
ENST00000591111.5:c.54404T>A (TTN)	ENSP00000465570.1:p.Leu18135Gln
ENST00000615779.4:c.54404T>A (TTN)	ENSP00000483597.1:p.Leu18135Gln
NM_001256850.1:c.54404T>A (TTN)	NP_001243779.1:p.Leu18135Gln
NM_001267550.2:c.59327T>A (TTN) MANE Select	NP_001254479.2:p.Leu19776Gln
NM_003319.4:c.32132T>A (TTN)	NP_003310.4:p.Leu10711Gln
NM_133378.4:c.51623T>A (TTN)	NP_596869.4:p.Leu17208Gln
NM_133432.3:c.32507T>A (TTN)	NP_597676.3:p.Leu10836Gln
NM_133437.4:c.32708T>A (TTN)	NP_597681.4:p.Leu10903Gln
NR_038271.1:n.597-4804A>T (TTN-AS1)
NR_038272.1:n.3364+1478A>T (TTN-AS1)
XM_011511729.1:c.58424T>A (TTN)	XP_011510031.1:p.Leu19475Gln
XM_011511730.1:c.32318T>A (TTN)	XP_011510032.1:p.Leu10773Gln
XM_011511731.1:c.32177T>A (TTN)	XP_011510033.1:p.Leu10726Gln
XM_017004819.1:c.58220T>A (TTN)	XP_016860308.1:p.Leu19407Gln
XM_017004820.1:c.53618T>A (TTN)	XP_016860309.1:p.Leu17873Gln
XM_017004821.1:c.53615T>A (TTN)	XP_016860310.1:p.Leu17872Gln
XM_017004822.1:c.50657T>A (TTN)	XP_016860311.1:p.Leu16886Gln
XM_017004823.1:c.32273T>A (TTN)	XP_016860312.1:p.Leu10758Gln
XM_024453094.1:c.53768T>A (TTN)	XP_024308862.1:p.Leu17923Gln
XM_024453095.1:c.53765T>A (TTN)	XP_024308863.1:p.Leu17922Gln
XM_024453096.1:c.53198T>A (TTN)	XP_024308864.1:p.Leu17733Gln
XM_024453097.1:c.50540T>A (TTN)	XP_024308865.1:p.Leu16847Gln
XM_024453098.1:c.50459T>A (TTN)	XP_024308866.1:p.Leu16820Gln
XM_024453099.1:c.32222T>A (TTN)	XP_024308867.1:p.Leu10741Gln
XM_024453100.1:c.22076T>A (TTN)	XP_024308868.1:p.Leu7359Gln