Canonical Allele Identifier: CA349464882

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179454039T>G (hg19) ; chr2:g.178589312T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178589312T>G , CM000664.2:g.178589312T>G	GRCh38
NC_000002.11:g.179454039T>G , CM000664.1:g.179454039T>G	GRCh37
NC_000002.10:g.179162285T>G	NCBI36
NG_011618.3:g.246491A>C , LRG_391:g.246491A>C
NG_051363.1:g.71486T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.54709A>C (TTN)	ENSP00000343764.6:p.Lys18237Gln
ENST00000342175.11:c.35794A>C (TTN)	ENSP00000340554.6:p.Lys11932Gln
ENST00000359218.10:c.35593A>C (TTN)	ENSP00000352154.5:p.Lys11865Gln
ENST00000342175.10:c.35794A>C (TTN)	ENSP00000340554.6:p.Lys11932Gln
ENST00000342992.10:c.54709A>C (TTN)	ENSP00000343764.6:p.Lys18237Gln
ENST00000359218.9:c.35593A>C (TTN)	ENSP00000352154.5:p.Lys11865Gln
ENST00000460472.6:c.35218A>C (TTN)	ENSP00000434586.1:p.Lys11740Gln
ENST00000589042.5:c.62413A>C (TTN) MANE Select	ENSP00000467141.1:p.Lys20805Gln
ENST00000591111.5:c.57490A>C (TTN)	ENSP00000465570.1:p.Lys19164Gln
ENST00000615779.4:c.57490A>C (TTN)	ENSP00000483597.1:p.Lys19164Gln
NM_001256850.1:c.57490A>C (TTN)	NP_001243779.1:p.Lys19164Gln
NM_001267550.2:c.62413A>C (TTN) MANE Select	NP_001254479.2:p.Lys20805Gln
NM_003319.4:c.35218A>C (TTN)	NP_003310.4:p.Lys11740Gln
NM_133378.4:c.54709A>C (TTN)	NP_596869.4:p.Lys18237Gln
NM_133432.3:c.35593A>C (TTN)	NP_597676.3:p.Lys11865Gln
NM_133437.4:c.35794A>C (TTN)	NP_597681.4:p.Lys11932Gln
NR_038271.1:n.597-8284T>G (TTN-AS1)
NR_038272.1:n.3189-1827T>G (TTN-AS1)
XM_011511729.1:c.61510A>C (TTN)	XP_011510031.1:p.Lys20504Gln
XM_011511730.1:c.35404A>C (TTN)	XP_011510032.1:p.Lys11802Gln
XM_011511731.1:c.35263A>C (TTN)	XP_011510033.1:p.Lys11755Gln
XM_017004819.1:c.61306A>C (TTN)	XP_016860308.1:p.Lys20436Gln
XM_017004820.1:c.56704A>C (TTN)	XP_016860309.1:p.Lys18902Gln
XM_017004821.1:c.56701A>C (TTN)	XP_016860310.1:p.Lys18901Gln
XM_017004822.1:c.53743A>C (TTN)	XP_016860311.1:p.Lys17915Gln
XM_017004823.1:c.35359A>C (TTN)	XP_016860312.1:p.Lys11787Gln
XM_024453094.1:c.56854A>C (TTN)	XP_024308862.1:p.Lys18952Gln
XM_024453095.1:c.56851A>C (TTN)	XP_024308863.1:p.Lys18951Gln
XM_024453096.1:c.56284A>C (TTN)	XP_024308864.1:p.Lys18762Gln
XM_024453097.1:c.53626A>C (TTN)	XP_024308865.1:p.Lys17876Gln
XM_024453098.1:c.53545A>C (TTN)	XP_024308866.1:p.Lys17849Gln
XM_024453099.1:c.35308A>C (TTN)	XP_024308867.1:p.Lys11770Gln
XM_024453100.1:c.25162A>C (TTN)	XP_024308868.1:p.Lys8388Gln