Canonical Allele Identifier: CA349600903

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179432017A>G (hg19) ; chr2:g.178567290A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178567290A>G , CM000664.2:g.178567290A>G	GRCh38
NC_000002.11:g.179432017A>G , CM000664.1:g.179432017A>G	GRCh37
NC_000002.10:g.179140263A>G	NCBI36
NG_011618.3:g.268513T>C , LRG_391:g.268513T>C
NG_051363.1:g.49464A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.71138T>C (TTN)	ENSP00000343764.6:p.Val23713Ala
ENST00000342175.11:c.52223T>C (TTN)	ENSP00000340554.6:p.Val17408Ala
ENST00000359218.10:c.52022T>C (TTN)	ENSP00000352154.5:p.Val17341Ala
ENST00000342175.10:c.52223T>C (TTN)	ENSP00000340554.6:p.Val17408Ala
ENST00000342992.10:c.71138T>C (TTN)	ENSP00000343764.6:p.Val23713Ala
ENST00000359218.9:c.52022T>C (TTN)	ENSP00000352154.5:p.Val17341Ala
ENST00000460472.6:c.51647T>C (TTN)	ENSP00000434586.1:p.Val17216Ala
ENST00000589042.5:c.78842T>C (TTN) MANE Select	ENSP00000467141.1:p.Val26281Ala
ENST00000591111.5:c.73919T>C (TTN)	ENSP00000465570.1:p.Val24640Ala
ENST00000615779.4:c.73919T>C (TTN)	ENSP00000483597.1:p.Val24640Ala
NM_001256850.1:c.73919T>C (TTN)	NP_001243779.1:p.Val24640Ala
NM_001267550.2:c.78842T>C (TTN) MANE Select	NP_001254479.2:p.Val26281Ala
NM_003319.4:c.51647T>C (TTN)	NP_003310.4:p.Val17216Ala
NM_133378.4:c.71138T>C (TTN)	NP_596869.4:p.Val23713Ala
NM_133432.3:c.52022T>C (TTN)	NP_597676.3:p.Val17341Ala
NM_133437.4:c.52223T>C (TTN)	NP_597681.4:p.Val17408Ala
NR_038271.1:n.447-4010A>G (TTN-AS1)
NR_038272.1:n.2044-15282A>G (TTN-AS1)
XM_011511729.1:c.77939T>C (TTN)	XP_011510031.1:p.Val25980Ala
XM_011511730.1:c.51833T>C (TTN)	XP_011510032.1:p.Val17278Ala
XM_011511731.1:c.51692T>C (TTN)	XP_011510033.1:p.Val17231Ala
XM_017004819.1:c.77735T>C (TTN)	XP_016860308.1:p.Val25912Ala
XM_017004820.1:c.73133T>C (TTN)	XP_016860309.1:p.Val24378Ala
XM_017004821.1:c.73130T>C (TTN)	XP_016860310.1:p.Val24377Ala
XM_017004822.1:c.70172T>C (TTN)	XP_016860311.1:p.Val23391Ala
XM_017004823.1:c.51788T>C (TTN)	XP_016860312.1:p.Val17263Ala
XM_024453094.1:c.73283T>C (TTN)	XP_024308862.1:p.Val24428Ala
XM_024453095.1:c.73280T>C (TTN)	XP_024308863.1:p.Val24427Ala
XM_024453096.1:c.72713T>C (TTN)	XP_024308864.1:p.Val24238Ala
XM_024453097.1:c.70055T>C (TTN)	XP_024308865.1:p.Val23352Ala
XM_024453098.1:c.69974T>C (TTN)	XP_024308866.1:p.Val23325Ala
XM_024453099.1:c.51737T>C (TTN)	XP_024308867.1:p.Val17246Ala
XM_024453100.1:c.41591T>C (TTN)	XP_024308868.1:p.Val13864Ala