Canonical Allele Identifier: CA349494261

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179457520G>C (hg19) ; chr2:g.178592793G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178592793G>C , CM000664.2:g.178592793G>C	GRCh38
NC_000002.11:g.179457520G>C , CM000664.1:g.179457520G>C	GRCh37
NC_000002.10:g.179165766G>C	NCBI36
NG_011618.3:g.243010C>G , LRG_391:g.243010C>G
NG_051363.1:g.74967G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.51622C>G (TTN)	ENSP00000343764.6:p.Leu17208Val
ENST00000342175.11:c.32707C>G (TTN)	ENSP00000340554.6:p.Leu10903Val
ENST00000359218.10:c.32506C>G (TTN)	ENSP00000352154.5:p.Leu10836Val
ENST00000342175.10:c.32707C>G (TTN)	ENSP00000340554.6:p.Leu10903Val
ENST00000342992.10:c.51622C>G (TTN)	ENSP00000343764.6:p.Leu17208Val
ENST00000359218.9:c.32506C>G (TTN)	ENSP00000352154.5:p.Leu10836Val
ENST00000460472.6:c.32131C>G (TTN)	ENSP00000434586.1:p.Leu10711Val
ENST00000589042.5:c.59326C>G (TTN) MANE Select	ENSP00000467141.1:p.Leu19776Val
ENST00000591111.5:c.54403C>G (TTN)	ENSP00000465570.1:p.Leu18135Val
ENST00000615779.4:c.54403C>G (TTN)	ENSP00000483597.1:p.Leu18135Val
NM_001256850.1:c.54403C>G (TTN)	NP_001243779.1:p.Leu18135Val
NM_001267550.2:c.59326C>G (TTN) MANE Select	NP_001254479.2:p.Leu19776Val
NM_003319.4:c.32131C>G (TTN)	NP_003310.4:p.Leu10711Val
NM_133378.4:c.51622C>G (TTN)	NP_596869.4:p.Leu17208Val
NM_133432.3:c.32506C>G (TTN)	NP_597676.3:p.Leu10836Val
NM_133437.4:c.32707C>G (TTN)	NP_597681.4:p.Leu10903Val
NR_038271.1:n.597-4803G>C (TTN-AS1)
NR_038272.1:n.3364+1479G>C (TTN-AS1)
XM_011511729.1:c.58423C>G (TTN)	XP_011510031.1:p.Leu19475Val
XM_011511730.1:c.32317C>G (TTN)	XP_011510032.1:p.Leu10773Val
XM_011511731.1:c.32176C>G (TTN)	XP_011510033.1:p.Leu10726Val
XM_017004819.1:c.58219C>G (TTN)	XP_016860308.1:p.Leu19407Val
XM_017004820.1:c.53617C>G (TTN)	XP_016860309.1:p.Leu17873Val
XM_017004821.1:c.53614C>G (TTN)	XP_016860310.1:p.Leu17872Val
XM_017004822.1:c.50656C>G (TTN)	XP_016860311.1:p.Leu16886Val
XM_017004823.1:c.32272C>G (TTN)	XP_016860312.1:p.Leu10758Val
XM_024453094.1:c.53767C>G (TTN)	XP_024308862.1:p.Leu17923Val
XM_024453095.1:c.53764C>G (TTN)	XP_024308863.1:p.Leu17922Val
XM_024453096.1:c.53197C>G (TTN)	XP_024308864.1:p.Leu17733Val
XM_024453097.1:c.50539C>G (TTN)	XP_024308865.1:p.Leu16847Val
XM_024453098.1:c.50458C>G (TTN)	XP_024308866.1:p.Leu16820Val
XM_024453099.1:c.32221C>G (TTN)	XP_024308867.1:p.Leu10741Val
XM_024453100.1:c.22075C>G (TTN)	XP_024308868.1:p.Leu7359Val