Canonical Allele Identifier: CA349435447

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179449204T>A (hg19) ; chr2:g.178584477T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178584477T>A , CM000664.2:g.178584477T>A	GRCh38
NC_000002.11:g.179449204T>A , CM000664.1:g.179449204T>A	GRCh37
NC_000002.10:g.179157450T>A	NCBI36
NG_011618.3:g.251326A>T , LRG_391:g.251326A>T
NG_051363.1:g.66651T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.57370A>T (TTN)	ENSP00000343764.6:p.Ile19124Phe
ENST00000342175.11:c.38455A>T (TTN)	ENSP00000340554.6:p.Ile12819Phe
ENST00000359218.10:c.38254A>T (TTN)	ENSP00000352154.5:p.Ile12752Phe
ENST00000342175.10:c.38455A>T (TTN)	ENSP00000340554.6:p.Ile12819Phe
ENST00000342992.10:c.57370A>T (TTN)	ENSP00000343764.6:p.Ile19124Phe
ENST00000359218.9:c.38254A>T (TTN)	ENSP00000352154.5:p.Ile12752Phe
ENST00000460472.6:c.37879A>T (TTN)	ENSP00000434586.1:p.Ile12627Phe
ENST00000589042.5:c.65074A>T (TTN) MANE Select	ENSP00000467141.1:p.Ile21692Phe
ENST00000591111.5:c.60151A>T (TTN)	ENSP00000465570.1:p.Ile20051Phe
ENST00000615779.4:c.60151A>T (TTN)	ENSP00000483597.1:p.Ile20051Phe
NM_001256850.1:c.60151A>T (TTN)	NP_001243779.1:p.Ile20051Phe
NM_001267550.2:c.65074A>T (TTN) MANE Select	NP_001254479.2:p.Ile21692Phe
NM_003319.4:c.37879A>T (TTN)	NP_003310.4:p.Ile12627Phe
NM_133378.4:c.57370A>T (TTN)	NP_596869.4:p.Ile19124Phe
NM_133432.3:c.38254A>T (TTN)	NP_597676.3:p.Ile12752Phe
NM_133437.4:c.38455A>T (TTN)	NP_597681.4:p.Ile12819Phe
NR_038271.1:n.596+13028T>A (TTN-AS1)
NR_038272.1:n.2768-96T>A (TTN-AS1)
XM_011511729.1:c.64171A>T (TTN)	XP_011510031.1:p.Ile21391Phe
XM_011511730.1:c.38065A>T (TTN)	XP_011510032.1:p.Ile12689Phe
XM_011511731.1:c.37924A>T (TTN)	XP_011510033.1:p.Ile12642Phe
XM_017004819.1:c.63967A>T (TTN)	XP_016860308.1:p.Ile21323Phe
XM_017004820.1:c.59365A>T (TTN)	XP_016860309.1:p.Ile19789Phe
XM_017004821.1:c.59362A>T (TTN)	XP_016860310.1:p.Ile19788Phe
XM_017004822.1:c.56404A>T (TTN)	XP_016860311.1:p.Ile18802Phe
XM_017004823.1:c.38020A>T (TTN)	XP_016860312.1:p.Ile12674Phe
XM_024453094.1:c.59515A>T (TTN)	XP_024308862.1:p.Ile19839Phe
XM_024453095.1:c.59512A>T (TTN)	XP_024308863.1:p.Ile19838Phe
XM_024453096.1:c.58945A>T (TTN)	XP_024308864.1:p.Ile19649Phe
XM_024453097.1:c.56287A>T (TTN)	XP_024308865.1:p.Ile18763Phe
XM_024453098.1:c.56206A>T (TTN)	XP_024308866.1:p.Ile18736Phe
XM_024453099.1:c.37969A>T (TTN)	XP_024308867.1:p.Ile12657Phe
XM_024453100.1:c.27823A>T (TTN)	XP_024308868.1:p.Ile9275Phe