Canonical Allele Identifier: CA1990061

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178570766C>T , CM000664.2:g.178570766C>T	GRCh38
NC_000002.11:g.179435493C>T , CM000664.1:g.179435493C>T	GRCh37
NC_000002.10:g.179143739C>T	NCBI36
NG_011618.3:g.265037G>A , LRG_391:g.265037G>A
NG_051363.1:g.52940C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.75366G>A (TTN) MANE Select	NP_001254479.2:p.Val25122=
ENST00000589042.5:c.75366G>A (TTN) MANE Select	ENSP00000467141.1:p.Val25122=
NM_001256850.1:c.70443G>A (TTN)	NP_001243779.1:p.Val23481=
NM_003319.4:c.48171G>A (TTN)	NP_003310.4:p.Val16057=
NM_133378.4:c.67662G>A (TTN)	NP_596869.4:p.Val22554=
NM_133432.3:c.48546G>A (TTN)	NP_597676.3:p.Val16182=
NM_133437.4:c.48747G>A (TTN)	NP_597681.4:p.Val16249=
NR_038271.1:n.447-534C>T (TTN-AS1)
NR_038272.1:n.2044-11806C>T (TTN-AS1)
ENST00000342175.10:c.48747G>A (TTN)	ENSP00000340554.6:p.Val16249=
ENST00000342175.11:c.48747G>A (TTN)	ENSP00000340554.6:p.Val16249=
ENST00000342992.10:c.67662G>A (TTN)	ENSP00000343764.6:p.Val22554=
ENST00000342992.11:c.67662G>A (TTN)	ENSP00000343764.6:p.Val22554=
ENST00000359218.10:c.48546G>A (TTN)	ENSP00000352154.5:p.Val16182=
ENST00000359218.9:c.48546G>A (TTN)	ENSP00000352154.5:p.Val16182=
ENST00000460472.6:c.48171G>A (TTN)	ENSP00000434586.1:p.Val16057=
ENST00000591111.5:c.70443G>A (TTN)	ENSP00000465570.1:p.Val23481=
ENST00000615779.4:c.70443G>A (TTN)	ENSP00000483597.1:p.Val23481=
XM_011511729.1:c.74463G>A (TTN)	XP_011510031.1:p.Val24821=
XM_011511730.1:c.48357G>A (TTN)	XP_011510032.1:p.Val16119=
XM_011511731.1:c.48216G>A (TTN)	XP_011510033.1:p.Val16072=
XM_017004819.1:c.74259G>A (TTN)	XP_016860308.1:p.Val24753=
XM_017004820.1:c.69657G>A (TTN)	XP_016860309.1:p.Val23219=
XM_017004821.1:c.69654G>A (TTN)	XP_016860310.1:p.Val23218=
XM_017004822.1:c.66696G>A (TTN)	XP_016860311.1:p.Val22232=
XM_017004823.1:c.48312G>A (TTN)	XP_016860312.1:p.Val16104=
XM_024453094.1:c.69807G>A (TTN)	XP_024308862.1:p.Val23269=
XM_024453095.1:c.69804G>A (TTN)	XP_024308863.1:p.Val23268=
XM_024453096.1:c.69237G>A (TTN)	XP_024308864.1:p.Val23079=
XM_024453097.1:c.66579G>A (TTN)	XP_024308865.1:p.Val22193=
XM_024453098.1:c.66498G>A (TTN)	XP_024308866.1:p.Val22166=
XM_024453099.1:c.48261G>A (TTN)	XP_024308867.1:p.Val16087=
XM_024453100.1:c.38115G>A (TTN)	XP_024308868.1:p.Val12705=