Canonical Allele Identifier: CA349664612

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179440712T>G (hg19) ; chr2:g.178575985T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178575985T>G , CM000664.2:g.178575985T>G	GRCh38
NC_000002.11:g.179440712T>G , CM000664.1:g.179440712T>G	GRCh37
NC_000002.10:g.179148958T>G	NCBI36
NG_011618.3:g.259818A>C , LRG_391:g.259818A>C
NG_051363.1:g.58159T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.62443A>C (TTN)	ENSP00000343764.6:p.Ile20815Leu
ENST00000342175.11:c.43528A>C (TTN)	ENSP00000340554.6:p.Ile14510Leu
ENST00000359218.10:c.43327A>C (TTN)	ENSP00000352154.5:p.Ile14443Leu
ENST00000342175.10:c.43528A>C (TTN)	ENSP00000340554.6:p.Ile14510Leu
ENST00000342992.10:c.62443A>C (TTN)	ENSP00000343764.6:p.Ile20815Leu
ENST00000359218.9:c.43327A>C (TTN)	ENSP00000352154.5:p.Ile14443Leu
ENST00000460472.6:c.42952A>C (TTN)	ENSP00000434586.1:p.Ile14318Leu
ENST00000589042.5:c.70147A>C (TTN) MANE Select	ENSP00000467141.1:p.Ile23383Leu
ENST00000591111.5:c.65224A>C (TTN)	ENSP00000465570.1:p.Ile21742Leu
ENST00000615779.4:c.65224A>C (TTN)	ENSP00000483597.1:p.Ile21742Leu
NM_001256850.1:c.65224A>C (TTN)	NP_001243779.1:p.Ile21742Leu
NM_001267550.2:c.70147A>C (TTN) MANE Select	NP_001254479.2:p.Ile23383Leu
NM_003319.4:c.42952A>C (TTN)	NP_003310.4:p.Ile14318Leu
NM_133378.4:c.62443A>C (TTN)	NP_596869.4:p.Ile20815Leu
NM_133432.3:c.43327A>C (TTN)	NP_597676.3:p.Ile14443Leu
NM_133437.4:c.43528A>C (TTN)	NP_597681.4:p.Ile14510Leu
NR_038271.1:n.596+4536T>G (TTN-AS1)
NR_038272.1:n.2044-6587T>G (TTN-AS1)
XM_011511729.1:c.69244A>C (TTN)	XP_011510031.1:p.Ile23082Leu
XM_011511730.1:c.43138A>C (TTN)	XP_011510032.1:p.Ile14380Leu
XM_011511731.1:c.42997A>C (TTN)	XP_011510033.1:p.Ile14333Leu
XM_017004819.1:c.69040A>C (TTN)	XP_016860308.1:p.Ile23014Leu
XM_017004820.1:c.64438A>C (TTN)	XP_016860309.1:p.Ile21480Leu
XM_017004821.1:c.64435A>C (TTN)	XP_016860310.1:p.Ile21479Leu
XM_017004822.1:c.61477A>C (TTN)	XP_016860311.1:p.Ile20493Leu
XM_017004823.1:c.43093A>C (TTN)	XP_016860312.1:p.Ile14365Leu
XM_024453094.1:c.64588A>C (TTN)	XP_024308862.1:p.Ile21530Leu
XM_024453095.1:c.64585A>C (TTN)	XP_024308863.1:p.Ile21529Leu
XM_024453096.1:c.64018A>C (TTN)	XP_024308864.1:p.Ile21340Leu
XM_024453097.1:c.61360A>C (TTN)	XP_024308865.1:p.Ile20454Leu
XM_024453098.1:c.61279A>C (TTN)	XP_024308866.1:p.Ile20427Leu
XM_024453099.1:c.43042A>C (TTN)	XP_024308867.1:p.Ile14348Leu
XM_024453100.1:c.32896A>C (TTN)	XP_024308868.1:p.Ile10966Leu