Canonical Allele Identifier: CA349435451

Gene: TTN TTN-AS1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.57370A>C (TTN)	ENSP00000343764.6:p.Ile19124Leu
ENST00000342175.11:c.38455A>C (TTN)	ENSP00000340554.6:p.Ile12819Leu
ENST00000359218.10:c.38254A>C (TTN)	ENSP00000352154.5:p.Ile12752Leu
ENST00000342175.10:c.38455A>C (TTN)	ENSP00000340554.6:p.Ile12819Leu
ENST00000342992.10:c.57370A>C (TTN)	ENSP00000343764.6:p.Ile19124Leu
ENST00000359218.9:c.38254A>C (TTN)	ENSP00000352154.5:p.Ile12752Leu
ENST00000460472.6:c.37879A>C (TTN)	ENSP00000434586.1:p.Ile12627Leu
ENST00000589042.5:c.65074A>C (TTN) MANE Select	ENSP00000467141.1:p.Ile21692Leu
ENST00000591111.5:c.60151A>C (TTN)	ENSP00000465570.1:p.Ile20051Leu
ENST00000615779.4:c.60151A>C (TTN)	ENSP00000483597.1:p.Ile20051Leu
NM_001256850.1:c.60151A>C (TTN)	NP_001243779.1:p.Ile20051Leu
NM_001267550.2:c.65074A>C (TTN) MANE Select	NP_001254479.2:p.Ile21692Leu
NM_003319.4:c.37879A>C (TTN)	NP_003310.4:p.Ile12627Leu
NM_133378.4:c.57370A>C (TTN)	NP_596869.4:p.Ile19124Leu
NM_133432.3:c.38254A>C (TTN)	NP_597676.3:p.Ile12752Leu
NM_133437.4:c.38455A>C (TTN)	NP_597681.4:p.Ile12819Leu
NR_038271.1:n.596+13028T>G (TTN-AS1)
NR_038272.1:n.2768-96T>G (TTN-AS1)
XM_011511729.1:c.64171A>C (TTN)	XP_011510031.1:p.Ile21391Leu
XM_011511730.1:c.38065A>C (TTN)	XP_011510032.1:p.Ile12689Leu
XM_011511731.1:c.37924A>C (TTN)	XP_011510033.1:p.Ile12642Leu
XM_017004819.1:c.63967A>C (TTN)	XP_016860308.1:p.Ile21323Leu
XM_017004820.1:c.59365A>C (TTN)	XP_016860309.1:p.Ile19789Leu
XM_017004821.1:c.59362A>C (TTN)	XP_016860310.1:p.Ile19788Leu
XM_017004822.1:c.56404A>C (TTN)	XP_016860311.1:p.Ile18802Leu
XM_017004823.1:c.38020A>C (TTN)	XP_016860312.1:p.Ile12674Leu
XM_024453094.1:c.59515A>C (TTN)	XP_024308862.1:p.Ile19839Leu
XM_024453095.1:c.59512A>C (TTN)	XP_024308863.1:p.Ile19838Leu
XM_024453096.1:c.58945A>C (TTN)	XP_024308864.1:p.Ile19649Leu
XM_024453097.1:c.56287A>C (TTN)	XP_024308865.1:p.Ile18763Leu
XM_024453098.1:c.56206A>C (TTN)	XP_024308866.1:p.Ile18736Leu
XM_024453099.1:c.37969A>C (TTN)	XP_024308867.1:p.Ile12657Leu
XM_024453100.1:c.27823A>C (TTN)	XP_024308868.1:p.Ile9275Leu