Canonical Allele Identifier: CA349479440

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179455656T>G (hg19) ; chr2:g.178590929T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178590929T>G , CM000664.2:g.178590929T>G	GRCh38
NC_000002.11:g.179455656T>G , CM000664.1:g.179455656T>G	GRCh37
NC_000002.10:g.179163902T>G	NCBI36
NG_011618.3:g.244874A>C , LRG_391:g.244874A>C
NG_051363.1:g.73103T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.53092A>C (TTN)	ENSP00000343764.6:p.Lys17698Gln
ENST00000342175.11:c.34177A>C (TTN)	ENSP00000340554.6:p.Lys11393Gln
ENST00000359218.10:c.33976A>C (TTN)	ENSP00000352154.5:p.Lys11326Gln
ENST00000342175.10:c.34177A>C (TTN)	ENSP00000340554.6:p.Lys11393Gln
ENST00000342992.10:c.53092A>C (TTN)	ENSP00000343764.6:p.Lys17698Gln
ENST00000359218.9:c.33976A>C (TTN)	ENSP00000352154.5:p.Lys11326Gln
ENST00000460472.6:c.33601A>C (TTN)	ENSP00000434586.1:p.Lys11201Gln
ENST00000589042.5:c.60796A>C (TTN) MANE Select	ENSP00000467141.1:p.Lys20266Gln
ENST00000591111.5:c.55873A>C (TTN)	ENSP00000465570.1:p.Lys18625Gln
ENST00000615779.4:c.55873A>C (TTN)	ENSP00000483597.1:p.Lys18625Gln
NM_001256850.1:c.55873A>C (TTN)	NP_001243779.1:p.Lys18625Gln
NM_001267550.2:c.60796A>C (TTN) MANE Select	NP_001254479.2:p.Lys20266Gln
NM_003319.4:c.33601A>C (TTN)	NP_003310.4:p.Lys11201Gln
NM_133378.4:c.53092A>C (TTN)	NP_596869.4:p.Lys17698Gln
NM_133432.3:c.33976A>C (TTN)	NP_597676.3:p.Lys11326Gln
NM_133437.4:c.34177A>C (TTN)	NP_597681.4:p.Lys11393Gln
NR_038271.1:n.597-6667T>G (TTN-AS1)
NR_038272.1:n.3189-210T>G (TTN-AS1)
XM_011511729.1:c.59893A>C (TTN)	XP_011510031.1:p.Lys19965Gln
XM_011511730.1:c.33787A>C (TTN)	XP_011510032.1:p.Lys11263Gln
XM_011511731.1:c.33646A>C (TTN)	XP_011510033.1:p.Lys11216Gln
XM_017004819.1:c.59689A>C (TTN)	XP_016860308.1:p.Lys19897Gln
XM_017004820.1:c.55087A>C (TTN)	XP_016860309.1:p.Lys18363Gln
XM_017004821.1:c.55084A>C (TTN)	XP_016860310.1:p.Lys18362Gln
XM_017004822.1:c.52126A>C (TTN)	XP_016860311.1:p.Lys17376Gln
XM_017004823.1:c.33742A>C (TTN)	XP_016860312.1:p.Lys11248Gln
XM_024453094.1:c.55237A>C (TTN)	XP_024308862.1:p.Lys18413Gln
XM_024453095.1:c.55234A>C (TTN)	XP_024308863.1:p.Lys18412Gln
XM_024453096.1:c.54667A>C (TTN)	XP_024308864.1:p.Lys18223Gln
XM_024453097.1:c.52009A>C (TTN)	XP_024308865.1:p.Lys17337Gln
XM_024453098.1:c.51928A>C (TTN)	XP_024308866.1:p.Lys17310Gln
XM_024453099.1:c.33691A>C (TTN)	XP_024308867.1:p.Lys11231Gln
XM_024453100.1:c.23545A>C (TTN)	XP_024308868.1:p.Lys7849Gln