Canonical Allele Identifier: CA349610681

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179433461C>A (hg19) ; chr2:g.178568734C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178568734C>A , CM000664.2:g.178568734C>A	GRCh38
NC_000002.11:g.179433461C>A , CM000664.1:g.179433461C>A	GRCh37
NC_000002.10:g.179141707C>A	NCBI36
NG_011618.3:g.267069G>T , LRG_391:g.267069G>T
NG_051363.1:g.50908C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.69694G>T (TTN)	ENSP00000343764.6:p.Val23232Leu
ENST00000342175.11:c.50779G>T (TTN)	ENSP00000340554.6:p.Val16927Leu
ENST00000359218.10:c.50578G>T (TTN)	ENSP00000352154.5:p.Val16860Leu
ENST00000342175.10:c.50779G>T (TTN)	ENSP00000340554.6:p.Val16927Leu
ENST00000342992.10:c.69694G>T (TTN)	ENSP00000343764.6:p.Val23232Leu
ENST00000359218.9:c.50578G>T (TTN)	ENSP00000352154.5:p.Val16860Leu
ENST00000460472.6:c.50203G>T (TTN)	ENSP00000434586.1:p.Val16735Leu
ENST00000589042.5:c.77398G>T (TTN) MANE Select	ENSP00000467141.1:p.Val25800Leu
ENST00000591111.5:c.72475G>T (TTN)	ENSP00000465570.1:p.Val24159Leu
ENST00000615779.4:c.72475G>T (TTN)	ENSP00000483597.1:p.Val24159Leu
NM_001256850.1:c.72475G>T (TTN)	NP_001243779.1:p.Val24159Leu
NM_001267550.2:c.77398G>T (TTN) MANE Select	NP_001254479.2:p.Val25800Leu
NM_003319.4:c.50203G>T (TTN)	NP_003310.4:p.Val16735Leu
NM_133378.4:c.69694G>T (TTN)	NP_596869.4:p.Val23232Leu
NM_133432.3:c.50578G>T (TTN)	NP_597676.3:p.Val16860Leu
NM_133437.4:c.50779G>T (TTN)	NP_597681.4:p.Val16927Leu
NR_038271.1:n.447-2566C>A (TTN-AS1)
NR_038272.1:n.2044-13838C>A (TTN-AS1)
XM_011511729.1:c.76495G>T (TTN)	XP_011510031.1:p.Val25499Leu
XM_011511730.1:c.50389G>T (TTN)	XP_011510032.1:p.Val16797Leu
XM_011511731.1:c.50248G>T (TTN)	XP_011510033.1:p.Val16750Leu
XM_017004819.1:c.76291G>T (TTN)	XP_016860308.1:p.Val25431Leu
XM_017004820.1:c.71689G>T (TTN)	XP_016860309.1:p.Val23897Leu
XM_017004821.1:c.71686G>T (TTN)	XP_016860310.1:p.Val23896Leu
XM_017004822.1:c.68728G>T (TTN)	XP_016860311.1:p.Val22910Leu
XM_017004823.1:c.50344G>T (TTN)	XP_016860312.1:p.Val16782Leu
XM_024453094.1:c.71839G>T (TTN)	XP_024308862.1:p.Val23947Leu
XM_024453095.1:c.71836G>T (TTN)	XP_024308863.1:p.Val23946Leu
XM_024453096.1:c.71269G>T (TTN)	XP_024308864.1:p.Val23757Leu
XM_024453097.1:c.68611G>T (TTN)	XP_024308865.1:p.Val22871Leu
XM_024453098.1:c.68530G>T (TTN)	XP_024308866.1:p.Val22844Leu
XM_024453099.1:c.50293G>T (TTN)	XP_024308867.1:p.Val16765Leu
XM_024453100.1:c.40147G>T (TTN)	XP_024308868.1:p.Val13383Leu