Canonical Allele Identifier: CA349621738

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179435269A>T (hg19) ; chr2:g.178570542A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178570542A>T , CM000664.2:g.178570542A>T	GRCh38
NC_000002.11:g.179435269A>T , CM000664.1:g.179435269A>T	GRCh37
NC_000002.10:g.179143515A>T	NCBI36
NG_011618.3:g.265261T>A , LRG_391:g.265261T>A
NG_051363.1:g.52716A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.67886T>A (TTN)	ENSP00000343764.6:p.Val22629Glu
ENST00000342175.11:c.48971T>A (TTN)	ENSP00000340554.6:p.Val16324Glu
ENST00000359218.10:c.48770T>A (TTN)	ENSP00000352154.5:p.Val16257Glu
ENST00000342175.10:c.48971T>A (TTN)	ENSP00000340554.6:p.Val16324Glu
ENST00000342992.10:c.67886T>A (TTN)	ENSP00000343764.6:p.Val22629Glu
ENST00000359218.9:c.48770T>A (TTN)	ENSP00000352154.5:p.Val16257Glu
ENST00000460472.6:c.48395T>A (TTN)	ENSP00000434586.1:p.Val16132Glu
ENST00000589042.5:c.75590T>A (TTN) MANE Select	ENSP00000467141.1:p.Val25197Glu
ENST00000591111.5:c.70667T>A (TTN)	ENSP00000465570.1:p.Val23556Glu
ENST00000615779.4:c.70667T>A (TTN)	ENSP00000483597.1:p.Val23556Glu
NM_001256850.1:c.70667T>A (TTN)	NP_001243779.1:p.Val23556Glu
NM_001267550.2:c.75590T>A (TTN) MANE Select	NP_001254479.2:p.Val25197Glu
NM_003319.4:c.48395T>A (TTN)	NP_003310.4:p.Val16132Glu
NM_133378.4:c.67886T>A (TTN)	NP_596869.4:p.Val22629Glu
NM_133432.3:c.48770T>A (TTN)	NP_597676.3:p.Val16257Glu
NM_133437.4:c.48971T>A (TTN)	NP_597681.4:p.Val16324Glu
NR_038271.1:n.447-758A>T (TTN-AS1)
NR_038272.1:n.2044-12030A>T (TTN-AS1)
XM_011511729.1:c.74687T>A (TTN)	XP_011510031.1:p.Val24896Glu
XM_011511730.1:c.48581T>A (TTN)	XP_011510032.1:p.Val16194Glu
XM_011511731.1:c.48440T>A (TTN)	XP_011510033.1:p.Val16147Glu
XM_017004819.1:c.74483T>A (TTN)	XP_016860308.1:p.Val24828Glu
XM_017004820.1:c.69881T>A (TTN)	XP_016860309.1:p.Val23294Glu
XM_017004821.1:c.69878T>A (TTN)	XP_016860310.1:p.Val23293Glu
XM_017004822.1:c.66920T>A (TTN)	XP_016860311.1:p.Val22307Glu
XM_017004823.1:c.48536T>A (TTN)	XP_016860312.1:p.Val16179Glu
XM_024453094.1:c.70031T>A (TTN)	XP_024308862.1:p.Val23344Glu
XM_024453095.1:c.70028T>A (TTN)	XP_024308863.1:p.Val23343Glu
XM_024453096.1:c.69461T>A (TTN)	XP_024308864.1:p.Val23154Glu
XM_024453097.1:c.66803T>A (TTN)	XP_024308865.1:p.Val22268Glu
XM_024453098.1:c.66722T>A (TTN)	XP_024308866.1:p.Val22241Glu
XM_024453099.1:c.48485T>A (TTN)	XP_024308867.1:p.Val16162Glu
XM_024453100.1:c.38339T>A (TTN)	XP_024308868.1:p.Val12780Glu