Canonical Allele Identifier: CA349496548

Gene: TTN TTN-AS1

Linked Data

• COSMIC: COSM1645405 ; COSM1645406 ; COSM1645407 ; COSM1645408
• MyVariant Identifiers: chr2:g.179457777A>T (hg19) ; chr2:g.178593050A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178593050A>T , CM000664.2:g.178593050A>T	GRCh38
NC_000002.11:g.179457777A>T , CM000664.1:g.179457777A>T	GRCh37
NC_000002.10:g.179166023A>T	NCBI36
NG_011618.3:g.242753T>A , LRG_391:g.242753T>A
NG_051363.1:g.75224A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.51365T>A (TTN)	ENSP00000343764.6:p.Ile17122Lys
ENST00000342175.11:c.32450T>A (TTN)	ENSP00000340554.6:p.Ile10817Lys
ENST00000359218.10:c.32249T>A (TTN)	ENSP00000352154.5:p.Ile10750Lys
ENST00000342175.10:c.32450T>A (TTN)	ENSP00000340554.6:p.Ile10817Lys
ENST00000342992.10:c.51365T>A (TTN)	ENSP00000343764.6:p.Ile17122Lys
ENST00000359218.9:c.32249T>A (TTN)	ENSP00000352154.5:p.Ile10750Lys
ENST00000460472.6:c.31874T>A (TTN)	ENSP00000434586.1:p.Ile10625Lys
ENST00000589042.5:c.59069T>A (TTN) MANE Select	ENSP00000467141.1:p.Ile19690Lys
ENST00000591111.5:c.54146T>A (TTN)	ENSP00000465570.1:p.Ile18049Lys
ENST00000615779.4:c.54146T>A (TTN)	ENSP00000483597.1:p.Ile18049Lys
NM_001256850.1:c.54146T>A (TTN)	NP_001243779.1:p.Ile18049Lys
NM_001267550.2:c.59069T>A (TTN) MANE Select	NP_001254479.2:p.Ile19690Lys
NM_003319.4:c.31874T>A (TTN)	NP_003310.4:p.Ile10625Lys
NM_133378.4:c.51365T>A (TTN)	NP_596869.4:p.Ile17122Lys
NM_133432.3:c.32249T>A (TTN)	NP_597676.3:p.Ile10750Lys
NM_133437.4:c.32450T>A (TTN)	NP_597681.4:p.Ile10817Lys
NR_038271.1:n.597-4546A>T (TTN-AS1)
NR_038272.1:n.3364+1736A>T (TTN-AS1)
XM_011511729.1:c.58166T>A (TTN)	XP_011510031.1:p.Ile19389Lys
XM_011511730.1:c.32060T>A (TTN)	XP_011510032.1:p.Ile10687Lys
XM_011511731.1:c.31919T>A (TTN)	XP_011510033.1:p.Ile10640Lys
XM_017004819.1:c.57962T>A (TTN)	XP_016860308.1:p.Ile19321Lys
XM_017004820.1:c.53360T>A (TTN)	XP_016860309.1:p.Ile17787Lys
XM_017004821.1:c.53357T>A (TTN)	XP_016860310.1:p.Ile17786Lys
XM_017004822.1:c.50399T>A (TTN)	XP_016860311.1:p.Ile16800Lys
XM_017004823.1:c.32015T>A (TTN)	XP_016860312.1:p.Ile10672Lys
XM_024453094.1:c.53510T>A (TTN)	XP_024308862.1:p.Ile17837Lys
XM_024453095.1:c.53507T>A (TTN)	XP_024308863.1:p.Ile17836Lys
XM_024453096.1:c.52940T>A (TTN)	XP_024308864.1:p.Ile17647Lys
XM_024453097.1:c.50282T>A (TTN)	XP_024308865.1:p.Ile16761Lys
XM_024453098.1:c.50201T>A (TTN)	XP_024308866.1:p.Ile16734Lys
XM_024453099.1:c.31964T>A (TTN)	XP_024308867.1:p.Ile10655Lys
XM_024453100.1:c.21818T>A (TTN)	XP_024308868.1:p.Ile7273Lys